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| | Lgr5 | Leucine-rich repeat-containing G-protein coupled receptor 5; Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a stem cell marker of the intestinal epithelium and the hair follicle. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the [...] (907 aa) |
| | Tlr13 | TIR domain-containing protein. (986 aa) |
| | Tmc1 | Transmembrane channel-like protein. (519 aa) |
| | Hpn | Serine protease hepsin non-catalytic chain; Serine protease that cleaves extracellular substrates, and contributes to the proteolytic processing of growth factors, such as HGF and MST1/HGFL. Plays a role in cell growth and maintenance of cell morphology. Plays a role in the proteolytic processing of ACE2. Mediates the proteolytic cleavage of urinary UMOD that is required for UMOD polymerization. (416 aa) |
| | Atg5 | Autophagy protein 5; Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3- like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is ess [...] (245 aa) |
| | Pdgfa | Platelet-derived growth factor subunit A; Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal lung alveolar septum formation during embryogenesis, normal development of the gastrointestinal tract, normal development of Leydig cells and spermatogenesis. Required for normal oligodendrocyte development and normal myelination in the spinal cord and cerebellum. Plays an important role in wound healing. Signaling is modulated by t [...] (211 aa) |
| | Otof | Otoferlin; Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity); Belongs to the ferlin family. (1998 aa) |
| | LOC100910298 | Homeo box A13. (218 aa) |
| | Igf1 | Insulin-like growth factor I; The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]- 2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation. Ca(2+)-dependent exo [...] (159 aa) |
| | Kcnq4 | Potassium voltage-gated channel subfamily KQT member 4; Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea; Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.4/KCNQ4 sub-subfamily. (695 aa) |
| | Adam10 | Disintegrin and metalloproteinase domain-containing protein 10; Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2, CD44, CDH2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP). Contributes to the normal cleavage of the cellular prion protein. Involved in the cleavage of the adhesion [...] (749 aa) |
| | Dll1 | Delta-like protein 1; Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner (By similarity). Following transinteraction, ligand cells produce mechanical force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerisation; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signaling through induction of cleavage, hyperphosphorylation, and nuclear accumulation of the intr [...] (714 aa) |
| | Vangl2 | Vang-like protein 2; Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity). (521 aa) |
| | Otx1 | Homeobox protein OTX1; Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC- 3' (By similarity). May play a role in the specification or differentiation of neurons in the deep layers of the cerebral cortex, and also in cerebellar regionalization during early development. Belongs to the paired homeobox family. Bicoid subfamily. (324 aa) |
| | Fgfr3 | Fibroblast growth factor receptor. (802 aa) |
| | Clic5 | Chloride intracellular channel protein 5; Required for normal hearing. It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti. Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture. Plays a role in formation of the lens suture in the eye, which is important for normal optical propert [...] (251 aa) |
| | Ccm2 | CCM2 scaffold protein. (453 aa) |
| | Triobp | TRIO and F-actin-binding protein. (2017 aa) |
| | Myo15a | Myosin XVA; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (3508 aa) |
| | Wnt1 | Protein Wnt; Ligand for members of the frizzled family of seven transmembrane receptors; Belongs to the Wnt family. (370 aa) |
| | Cys1 | Cystin 1. (145 aa) |
| | Gabrb3 | Gamma-aminobutyric acid receptor subunit beta-3; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA- gated ion channel (By similarity). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor [...] (456 aa) |
| | Col2a1 | Collagen alpha-1(II) chain; Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. (1419 aa) |
| | Phox2b | Paired-like homeobox 2b. (307 aa) |
| | Ephb2 | Eph receptor B2. (986 aa) |
| | Prrx2 | Paired-related homeobox 2. (247 aa) |
| | Ttc39c | Tetratricopeptide repeat protein 39C; Belongs to the TTC39 family. (545 aa) |
| | Wdpcp | WD repeat-containing and planar cell polarity effector protein fritz homolog; Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity). (724 aa) |
| | Ror2 | Receptor tyrosine kinase-like orphan receptor 2 (Predicted); Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily. (943 aa) |
| | Ptprq | Phosphatidylinositol phosphatase PTPRQ; Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5- bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; however, the relevance of such activity in vivo is un [...] (2302 aa) |
| | Aldh1a3 | Aldehyde dehydrogenase family 1 member A3; NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (By similarity). Has high activity with all- trans retinal, and has much lower in vitro activity with acetaldehyde (By similarity). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity). (512 aa) |
| | Abr | Active breakpoint cluster region-related protein; Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form. The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GD [...] (842 aa) |
| | Ttc8 | Tetratricopeptide repeat domain 8. (505 aa) |
| | Ift88 | Intraflagellar transport 88. (825 aa) |
| | Adgrv1 | Adhesion G protein-coupled receptor V1; Belongs to the G-protein coupled receptor 2 family. (6298 aa) |
| | LOC100909593 | RT1 class II, locus DMa. (260 aa) |
| | Fzd3 | Frizzled homolog 3 (Drosophila), isoform CRA_a; Belongs to the G-protein coupled receptor Fz/Smo family. (666 aa) |
| | Foxg1 | Forkhead box protein G1; Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon. (480 aa) |
| | RT1-DMa | Major histocompatibility complex, class II, DM alpha; Belongs to the MHC class II family. (260 aa) |
| | Rbpj | Recombining binding protein suppressor of hairless (Drosophila) (Predicted), isoform CRA_a. (465 aa) |
| | Lin7a | Protein lin-7 homolog A; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may funct [...] (219 aa) |
| | Bdnf | Brain-derived neurotrophic factor; Important signaling molecule that activates signaling cascades downstream of NTRK2 (By similarity). During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including lo [...] (362 aa) |
| | Otx2 | Homeobox protein OTX2; Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'; Belongs to the paired homeobox family. Bicoid subfamily. (289 aa) |
| | Cebpd | CCAAT/enhancer-binding protein delta; Transcription activator that recognizes two different DNA motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Important transcription factor regulating the expression of genes involved in immune and inflammatory responses. Transcriptional activator that enhances IL6 transcription alone and as heterodimer with CEBPB (By similarity); Belongs to the bZIP family. C/EBP subfamily. (268 aa) |
| | Wnt3a | Protein Wnt; Ligand for members of the frizzled family of seven transmembrane receptors; Belongs to the Wnt family. (359 aa) |
| | Eya1 | Eyes absent homolog; Belongs to the HAD-like hydrolase superfamily. EYA family. (592 aa) |
| | Cebpa | CCAAT/enhancer-binding protein alpha; Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5'-T[TG]NNGNAA[TG]-3' acting as an activator on distinct target genes. During early embryogenesis, plays essential and redundant functions with CEBPB (By similarity). Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Critical for the proper development of the liver and the lun [...] (395 aa) |
| | Ush1c | USH1 protein network component harmonin. (548 aa) |
| | Col11a1 | Collagen alpha-1(XI) chain; May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. (1804 aa) |
| | Grhl3 | Transcription factor CP2-like 4 (Predicted). (549 aa) |
| | Pcdh15 | Protocadherin-related 15. (1551 aa) |
| | Pdgfrb | Platelet-derived growth factor receptor beta; Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at v [...] (1097 aa) |
| | Clrn1 | Clarin-1; May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina; Belongs to the clarin family. (232 aa) |
| | Fgfr2 | Fibroblast growth factor receptor. (841 aa) |
| | Kcnma1 | Calcium-activated potassium channel subunit alpha-1; Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in t [...] (1242 aa) |
| | Pvalb | Parvalbumin alpha; In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions; Belongs to the parvalbumin family. (110 aa) |
| | Ptk7 | Protein tyrosine kinase 7; Belongs to the protein kinase superfamily. Tyr protein kinase family. (778 aa) |
| | Mapkapk2 | MAPK-activated protein kinase 2; Belongs to the protein kinase superfamily. (370 aa) |
| | Grxcr2 | Glutaredoxin and cysteine-rich domain-containing 2. (248 aa) |
| | Pls3 | Plastin-3; Actin-bundling protein. (630 aa) |
| | Cux1 | Homeobox protein cut-like 1; Probably has a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5' and 3') of the immunoglobulin heavy chain enhancer. Represses T-cell receptor (TCR) beta enhancer function by binding to MARbeta, an ATC-rich DNA sequence located upstream of the TCR beta enhancer (By similarity). Binds to the TH enhancer; may require the basic helix-loop-helix protein T [...] (1504 aa) |
| | Grxcr1 | Glutaredoxin and cysteine-rich domain-containing 1. (290 aa) |
| | Pjvk | Pejvakin. (351 aa) |
| | Epha4 | Eph receptor A4. (986 aa) |
| | Naglu | N-acetyl-alpha-glucosaminidase. (739 aa) |
| | Alms1 | ALMS1, centrosome and basal body-associated protein. (3245 aa) |
| | Six4 | Sine oculis-related homeobox 4 homolog (Drosophila) (Predicted). (705 aa) |
| | Cdkn1b | Cyclin-dependent kinase inhibitor 1B. (197 aa) |
| | Ripor2 | Rho family-interacting cell polarization regulator 2; Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization. Plays a role in fetal mononuclear myoblast differentiation by promoting filopodia and myotube formation (By similarity). Maintains naive T lymphocytes in a quiescent state and prevents chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration (By similarity). Involved also in the regulation of neutrophil polarizatio [...] (1310 aa) |
| | Cdh23 | Cadherin-23; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. (2835 aa) |
| | Otop1 | Proton channel OTOP1; Proton-selective channel that specifically transports protons into cells. Proton channel activity is only weakly-sensitive to voltage. Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes. In the vestibular system of the inner ear, required for the formation and function of otoconia, which are calcium carbonate crystals that sense gravity and acceleration. Probably acts by maintaining the pH appropriate for formation of otoconia. Regulates [...] (600 aa) |
| | Oc90 | RCG60015, isoform CRA_a. (539 aa) |
| | Atp2b2 | Plasma membrane calcium-transporting ATPase 2; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. (1199 aa) |
| | Pdzd7 | PDZ domain-containing 7. (1031 aa) |
| | Ror1 | Receptor tyrosine kinase-like orphan receptor 1; Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily. (874 aa) |
| | Ntrk3 | NT-3 growth factor receptor; Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways, including the phosphatidylinositol 3-kinase/AKT and the MAPK pathways, that control cell survival and differentiation (By similarity). NTRK3 isoforms containing insertions within the kinase domain can autophosphorylate in response to NTF3/neurotrophin-3, but cannot mediate downstream phenotypic responses ; Belongs to the protein kinase superfamily. Tyr protein [...] (864 aa) |
| | Lhx3 | RCG45383, isoform CRA_b. (402 aa) |
| | Scrib | Similar to PDZ-domain protein scribble (Predicted), isoform CRA_b. (1663 aa) |
| | Fgfr1 | Fibroblast growth factor receptor 1; Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 lea [...] (729 aa) |
| | Ptpn11 | Tyrosine-protein phosphatase non-receptor type 11; Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Positively regulates MAPK signal transduction pathway. Dephosphorylates GAB1, ARHGAP35 and EGFR. Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulatation of its RhoA binding activity. Dephosphorylates CDC73. (597 aa) |
| | Musk | Muscle, skeletal receptor tyrosine protein kinase; Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskel [...] (868 aa) |
| | Tfap2a | Transcription factor AP-2-alpha; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and c-Myc. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITE [...] (431 aa) |
| | Ocm2 | Oncomodulin; Has some calmodulin-like activity with respect to enzyme activation and growth regulation. Binds two calcium ions; Belongs to the parvalbumin family. (109 aa) |
| | Dchs1 | Protocadherin-16; Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation (By similarity). (3291 aa) |
| | Pax2 | Paired box gene 2 (Predicted). (416 aa) |
| | Slc25a27 | Solute carrier family 25, member 27; Belongs to the mitochondrial carrier (TC 2.A.29) family. (275 aa) |
| | Bmper | BMP-binding endothelial regulator (Predicted). (685 aa) |
| | Stox1 | Storkhead box 1. (978 aa) |
| | Otol1 | Otolin 1. (482 aa) |
| | Atp8b1 | Phospholipid-transporting ATPase; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. (1251 aa) |
| | Mpv17 | Protein Mpv17; Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis. Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (By similarity). May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity); Belongs to the peroxisomal membrane protein PXMP2/4 family. (169 aa) |
| | Six1 | Sine oculis homeobox homolog 1 (Drosophila). (284 aa) |
| | Sec24b | SEC24 related gene family, member B (S. cerevisiae) (Predicted). (1242 aa) |
| | Fat4 | FAT atypical cadherin 4. (4981 aa) |
| | Fzd2 | Frizzled-2; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pa [...] (570 aa) |
| | Lrtomt | Transmembrane O-methyltransferase homolog; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function (By similarity). Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity). (258 aa) |
| | Slitrk6 | SLIT and NTRK-like family, member 6 (Predicted). (840 aa) |
| | Pax8 | Paired box protein Pax-8; Thought to encode a transcription factor. It may have a role in kidney cell differentiation. May play a regulatory role in mammalian development (By similarity). (457 aa) |
| | Myo3b | Myosin IIIB; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (1123 aa) |
| | Ush1g | Usher syndrome 1G homolog (Human) (Predicted). (461 aa) |
| | Frem2 | FRAS1-related extracellular matrix 2. (3158 aa) |
| | Lhfpl5 | LHFPL tetraspan subfamily member 5 protein; In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation (By similarity). (219 aa) |
| | Cytl1 | Cytokine-like 1. (137 aa) |
| | Lrig3 | Similar to Leucine-rich and immunoglobulin-like domains 3 (Predicted). (1116 aa) |
| | Tmie | Similar to putative integral membrane protein TMIE (Predicted), isoform CRA_a. (153 aa) |
| | Tsku | Tsukushin. (353 aa) |
| | Celsr1 | Cadherin, EGF LAG seven-pass G-type receptor 1; Belongs to the G-protein coupled receptor 2 family. (2741 aa) |
| | Mnda | Myeloid cell nuclear differentiation antigen. (438 aa) |
| | Bmp2 | Bone morphogenetic protein 2; Induces cartilage and bone formation. Stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A- ATF4 pathway. BMP2 activation of EIF2AK3 stimulates phosphorylation of EIF2A which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. In addition stimulates TMEM119, which upregulates the expression of ATF4. Belongs to the TGF-beta family. (394 aa) |
| | Fgf3 | Fibroblast growth factor; Belongs to the heparin-binding growth factors family. (245 aa) |
| | Tgfb1 | Transforming growth factor beta-1 proprotein; Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively. Transforming growth factor beta-1: Multifunctional protein that regulates the growth and differentiation of various cell types and is involved in various processes, such as normal development, immune function, microglia function and responses to neurodegeneration (By similarity). Activation into mature form fo [...] (390 aa) |
| | Hmx2 | Similar to Hmx2 protein (Predicted), isoform CRA_b. (273 aa) |
| | Hmx3 | Similar to homeodomain protein (Predicted). (356 aa) |
| | Kcnq1 | Potassium voltage-gated channel subfamily KQT member 1; Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity). Associates with KCNE beta subunits that modulates current kinetics (By similarity). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic. During beta-adrenergic receptor stimulation participates in cardiac repolarization by [...] (669 aa) |
| | Chrna10 | Neuronal acetylcholine receptor subunit alpha-10; Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion- conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this leads to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing [...] (447 aa) |
| | Cdh1 | Cadherin-1; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells. Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7. (886 aa) |
| | Dvl1 | Segment polarity protein dishevelled homolog DVL-1; Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ) (By simi [...] (695 aa) |
| | Gbx2 | Gastrulation brain homeobox 2. (348 aa) |
| | Notch1 | Neurogenic locus notch homolog protein 1; Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination (By similarity). Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus (By similarity). Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in angiogenesis; negatively regulates endothelial cell proliferation and mig [...] (2531 aa) |
| | Gata3 | GATA-binding protein 3. (444 aa) |
| | Atg4b | Cysteine protease; Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy; Belongs to the peptidase C54 family. (393 aa) |
| | Pou4f3 | POU domain, class 4, transcription factor 3; Acts as a transcriptional activator. Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes. Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear. (338 aa) |
| | Myo3a | Myosin IIIA; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (1621 aa) |
| | Dvl2 | Dishevelled segment polarity protein 2. (736 aa) |
| | Zeb1 | Zinc finger E-box-binding homeobox 1; Acts as a transcriptional repressor. Binds to E-box sequences in the immunoglobulin heavy chain enhancer as well as in the regulatory regions of many other tissue-specific genes. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5'- CANNTG-3'). Promotes tumorige [...] (1089 aa) |
| | Duox2 | Dual oxidase 2; Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain. (1517 aa) |
| | Fgf8 | Fibroblast growth factor; Belongs to the heparin-binding growth factors family. (204 aa) |
| | Fgf2 | Fibroblast growth factor 2; Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4. Also acts as an integrin ligand which is required for FGF2 signaling. Binds to integrin ITGAV:ITGB3. Plays an important role in the regulation of cell survival, cell division, cell differentiation and cell migration. Functions as a potent mitogen in vitro. Can induce angiogenesis. (154 aa) |
| | Itga8 | Integrin subunit alpha 8; Belongs to the integrin alpha chain family. (1062 aa) |
| | Plppr4 | Phospholipid phosphatase-related protein type 4; Hydrolyzes lysophosphatidic acid (LPA). Facilitates axonal outgrowth during development and regenerative sprouting. In the outgrowing axons acts as an ecto-enzyme and attenuates phospholipid- induced axon collapse in neurons and facilitates outgrowth in the hippocampus. (766 aa) |
| | Clrn2 | Clarin 2. (232 aa) |
| | Eya4 | Eyes absent homolog; Belongs to the HAD-like hydrolase superfamily. EYA family. (589 aa) |
| | Mcm2 | DNA helicase; Belongs to the MCM family. (905 aa) |
| | Nox3 | NADPH oxidase 3; NADPH oxidase which constitutively produces superoxide upon formation of a complex with CYBA/p22phox. Plays a role in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity (By similarity). (568 aa) |
| | Bloc1s5 | Biogenesis of lysosome-related organelles complex 1 subunit 5; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking (By similarity [...] (187 aa) |
| | Efna2 | Ephrin A2; Belongs to the ephrin family. (209 aa) |
| | Mafb | Transcription factor MafB; Acts as a transcriptional activator or repressor. Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to s [...] (323 aa) |
| | Wnt5a | Protein Wnt-5a; Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta- catenin-induced reporter gene expression (By similarity). Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decre [...] (380 aa) |
| | Ccna2 | Cyclin A2, isoform CRA_b. (418 aa) |
| | Mcoln3 | Mucolipin 3. (552 aa) |
| | Strc | Stereocilin. (1809 aa) |
| | Alg10 | Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase; Putative alpha-1,2-glucosyltransferase, which adds the third glucose residue to the lipid-linked oligosaccharide precursor for N- linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol (By similarity). When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2. Has a role in maintenance of cochlear outer hair cell function (By similarity) [...] (474 aa) |
| | Gli3 | GLI family zinc finger 3. (1582 aa) |
| | Sdc4 | Syndecan-4; Cell surface proteoglycan that bears heparan sulfate. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP. (202 aa) |
| | Jag2 | Protein jagged-2; Putative Notch ligand involved in the mediation of Notch signaling. May have a role in neurogenesis in the peripheral nervous system, limb development and in the adult brain. (1077 aa) |
| | Hesx1 | Similar to anterior-restricted homeobox protein (Predicted). (185 aa) |
| | Ahi1 | Jouberin; Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development. (1047 aa) |
| | Myo7a | Myosin VIIA; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (2177 aa) |
| | Hes5 | Transcription factor HES-5; Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity). (166 aa) |
| | Hey2 | Hes-related family bHLH transcription factor with YRPW motif 2. (339 aa) |
| | Atp6v1b1 | ATPase H+-transporting V1 subunit B1. (611 aa) |
| | Sparc | SPARC; Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity; Belongs to the SPARC family. (301 aa) |
| | Lrig1 | Leucine-rich repeats and immunoglobulin-like domains 1. (971 aa) |
| | Gata2 | Endothelial transcription factor GATA-2; Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'- AGATAG-3' (By similarity). Plays an important role in the regulation of phagocytosis in alveolar macrophages, particularly during P.carinii infection. (480 aa) |
| | C1qb | Complement C1q subcomponent subunit B; C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes. (253 aa) |
| | Maf | Transcription factor Maf; Acts as a transcriptional activator or repressor. When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T-helper 2 (Th2) cell [...] (369 aa) |
| | Fgf10 | Fibroblast growth factor 10; Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing; Belongs to the heparin-binding growth factors family. (215 aa) |
| | Myo6 | Myosin VI; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (1285 aa) |
| | Sox2 | SRY-box transcription factor 2. (319 aa) |
| | Cxcl14 | Chemokine (C-X-C motif) ligand 14. (99 aa) |
| | Neurog1 | Neurogenin-1; Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity). (244 aa) |
| | Tifab | TRAF-interacting protein with FHA domain-containing protein B; Inhibits TIFA-mediated TRAF6 activation possibly by inducing a conformational change in TIFA. (147 aa) |
| | Rpgrip1l | Similar to Fantom protein (Predicted). (1264 aa) |
| | Slc26a5 | Prestin; Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ. Prestin is a bidirectional voltage-to-force converter, it can operate at microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the cytoplasm [...] (744 aa) |
| | Cecr2 | CECR2, histone acetyl-lysine reader. (1437 aa) |
| | Lrp10 | Low-density lipoprotein receptor-related protein 10. (711 aa) |
| | Fgf9 | Fibroblast growth factor 9; Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors. (208 aa) |
| | Dlx5 | Homeobox protein DLX-5; Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL an [...] (289 aa) |
| | Tbx18 | T-box18 (Predicted), isoform CRA_a. (612 aa) |
| | Gabra5 | Gamma-aminobutyric acid receptor subunit alpha-5; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. (464 aa) |
| | Tprn | Taperin. (753 aa) |
| | Dicer1 | Dicer 1 ribonuclease III; Belongs to the helicase family. Dicer subfamily. (1918 aa) |
| | Esrrb | Steroid hormone receptor ERR2; Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity (By similarity). Plays a role, in a LIF independent manner, in maintainance of self-renewal and pluripotency of embryonic and trophoblast stem cells through different signaling pathways including FGF signaling pathway and Wnt signaling pathways. Upon FGF signaling pathway activation, interacts with KDM1A by directly binding to enhancer site of ELF5 and E [...] (433 aa) |
| | Tgfb3 | Transforming growth factor beta-3 proprotein; Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively. Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi appa [...] (412 aa) |
| | Spry2 | Sprouty RTK-signaling antagonist 2. (314 aa) |
| | Gsdme | Gasdermin E. (513 aa) |
| | Pls1 | Plastin 1. (630 aa) |
| | Kcnk3 | Potassium channel subfamily K member 3; pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward. (411 aa) |
| | Bmp4 | Bone morphogenetic protein 4; Induces cartilage and bone formation. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity). (408 aa) |
| | Anp32b | Acidic leucine-rich nuclear phosphoprotein 32 family member B; Exhibits histone chaperone properties, stimulating core histones to assemble into a nucleosome (By similarity). Multifunctional protein working as a cell cycle progression factor as well as a cell survival factor. Required for the progression from the G1 to the S phase. Anti-apoptotic protein which functions as a caspase-3 inhibitor. Has no phosphatase 2A (PP2A) inhibitor activity; Belongs to the ANP32 family. (271 aa) |
| | Gjb6 | Gap junction protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. (261 aa) |
| | Ift20 | Hypothetical LOC287541 (Predicted), isoform CRA_c. (157 aa) |
| | Gjb2 | Gap junction beta-2 protein; Structural component of gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore. (226 aa) |
| | Tbx3 | T-box transcription factor TBX3; Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence (By similarity). (743 aa) |
| | Mks1 | Meckel syndrome type 1 protein homolog; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. (561 aa) |
| | Calb1 | Calbindin; Buffers cytosolic calcium. May stimulate a membrane Ca(2+)- ATPase and a 3',5'-cyclic nucleotide phosphodiesterase. (261 aa) |
| | Jag1 | Protein jagged-1; Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Enhances fibroblast growth factor-induced angiogenesis (in vitro). Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation. May regulate fibroblast growth factor-induced angiogenesis. (1219 aa) |
| | Frzb | Frizzled-related protein. (323 aa) |
| | Slc17a8 | Vesicular glutamate transporter 3; Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. (588 aa) |
| | C1qtnf5 | Complement C1q tumor necrosis factor-related protein 5. (243 aa) |
| | Kif3a | Kinesin-like protein; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. (702 aa) |
| | Gli2 | GLI family zinc finger 2. (1544 aa) |
| | Insig1 | Insulin-induced gene 1 protein; Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Initiates the sterol-mediated ubiquitin- mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase to the ubiquitin ligase, AMFR/gp78. May play a role in growth and differentiation of tissues involved in metabolic control. May pla [...] (259 aa) |
| | Hpca | Neuron-specific calcium-binding protein hippocalcin; Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (By similarity). May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases. (193 aa) |
| | Foxi1 | Forkhead box I1 (Predicted), isoform CRA_a. (372 aa) |
| | Chd7 | Chromodomain helicase DNA-binding protein 7. (2984 aa) |
| | Slc4a7 | Sodium bicarbonate cotransporter 3; Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry. Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an associated sodium channel activity. (1254 aa) |
| | Shh | Sonic hedgehog protein N-product; [Sonic hedgehog protein]: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the reticulum endoplasmic (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By similarity). (437 aa) |
| | Ift27 | RAB, member of RAS oncogene family-like 4 (Predicted). (186 aa) |
| | Atoh1 | Atonal bHLH transcription factor 1. (351 aa) |
| | Nr4a3 | Nuclear receptor subfamily 4 group A member 3; Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner. Induces gene expression by binding as monomers to the NR4A1 response element (NBRE) 5'-AAAAGGTCA-3' site and as homodimers to the Nur response element (NurRE) site in the promoter of their regulated target genes. Plays a role in the regulation of proliferation, survival and differentiation of many different cell types and also in metabolism and inflammation. Mediates proliferation of vascular smooth musc [...] (628 aa) |
| | Hoxa1 | Homeobox protein Hox-A1; Sequence-specific transcription factor (By similarity). Regulates multiple developmental processes including brainstem, inner and outer ear, abducens nerve and cardiovascular development and morphogenesis as well as cognition and behavior (By similarity). Also part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments (By similarity). Activates transcription in the presence of PBX1A [...] (334 aa) |
| | Neurod1 | Neurogenic differentiation factor 1; Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or [...] (357 aa) |
| | Trip11 | Thyroid hormone receptor interactor 11. (1974 aa) |
| | Fzd6 | Frizzled homolog 6 (Drosophila); Belongs to the G-protein coupled receptor Fz/Smo family. (710 aa) |
| | Cthrc1 | Collagen triple helix repeat-containing protein 1; Its overexpression in smooth muscle cell lines increases their migratory ability and inhibits collagen type I expression. May act as a negative regulator of collagen matrix deposition. (245 aa) |
| | Tshr | Thyrotropin receptor; Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin. Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase (By similarity). Plays a central role in controlling thyroid cell metabolism. (764 aa) |
| | Ntn1 | Netrin-1; Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. Binding to UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (By similarity). Involved in dorsal root ganglion axon projection towards the spinal cord (By similarity). It also serves as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involve [...] (575 aa) |
| | Ush2a | Usherin; Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. (5162 aa) |
| | Gabrb2 | Gamma-aminobutyric acid receptor subunit beta-2; Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain. Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (By similarity). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor [...] (474 aa) |
| | Prrx1 | Paired mesoderm homeobox protein 1; Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity). (245 aa) |
| | Prox1 | Prospero homeobox 1. (654 aa) |
| | Tbx2 | T-box 2 (Predicted), isoform CRA_a. (364 aa) |
| | Slc9a3r1 | Na(+)/H(+) exchange regulatory cofactor NHE-RF1; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatoz [...] (356 aa) |
| | Slc9a3r2 | Na(+)/H(+) exchange regulatory cofactor NHE-RF2; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus. (337 aa) |
| | Pou3f4 | POU domain, class 3, transcription factor 4; Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain; Belongs to the POU transcription factor family. Class-3 subfamily. (361 aa) |
| | Pafah1b1 | Platelet-activating factor acetylhydrolase IB subunit alpha; Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule slidi [...] (410 aa) |
| | Kcnk2 | Potassium channel subfamily K member 2; Ion channel that contributes to passive transmembrane potassium transport. Reversibly converts between a voltage-insensitive potassium leak channel and a voltage-dependent outward rectifying potassium channel in a phosphorylation-dependent manner. In astrocytes, forms mostly heterodimeric potassium channels with KCNK1, with only a minor proportion of functional channels containing homodimeric KCNK2. In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled recep [...] (426 aa) |
| | Sox9 | SRY-box transcription factor 9. (507 aa) |
| | Insig2 | Insulin-induced gene 2 protein; Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated proteasomal degradation of HMGCR (By similarity). (225 aa) |
| | Chrna9 | Neuronal acetylcholine receptor subunit alpha-9; Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding induces a conformation change that leads to the opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this leads to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may p [...] (479 aa) |
| | Tgfb2 | Transforming growth factor beta-2 proprotein; Transforming growth factor beta-2 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively. Transforming growth factor beta-2: Multifunctional protein that regulates various processes such as angiogenesis and heart development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transfor [...] (442 aa) |
| | Pdgfra | Platelet-derived growth factor receptor alpha; Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointes [...] (1088 aa) |
| | Sod1 | Superoxide dismutase [Cu-Zn]; Destroys radicals which are normally produced within the cells and which are toxic to biological systems; Belongs to the Cu-Zn superoxide dismutase family. (154 aa) |
| | Rest | RE1-silencing transcription factor; Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells (By similarity). Restricts the expression of neuronal genes by associating with two distinct corepressors, SIN3A and RCOR1, which in turn recruit histone deacetylase to the promoters of REST-regulated genes (By similarity). Mediates repression by recruiting the BHC complex at RE1/NRSE sites which acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. Trans [...] (1086 aa) |
| | Igfbp7 | Insulin-like growth factor binding protein 7, isoform CRA_b. (281 aa) |
| | Gfi1 | Zinc finger protein Gfi-1; Transcription repressor essential for hematopoiesis. Functions in a cell-context and development-specific manner. Binds to 5'-TAAATCAC[AT]GCA-3' in the promoter region of a large number of genes. Component of several complexes, including the EHMT2-GFI1-HDAC1, AJUBA-GFI1-HDAC1 and RCOR-GFI-KDM1A-HDAC complexes, that suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development. [...] (423 aa) |
| | Tbx1 | T-box transcription factor 1. (480 aa) |
| | Hes1 | Transcription factor HES-1; Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and on E-box motifs: 5'- CANNTG-3' with low affinity. May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage (By similarity). (281 aa) |
| | Opa1 | Dynamin-like 120 kDa protein, mitochondrial; Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission. Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion. Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation. The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes (By similarity). Plays a role in [...] (960 aa) |
| | Dvl3 | Dishevelled segment polarity protein 3. (716 aa) |
| | Whrn | Whirlin; Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. (920 aa) |
| | Get1 | Tail-anchored protein insertion receptor WRB; Receptor for ASNA1/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane. (174 aa) |
| | Bcr | Breakpoint cluster region protein; Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form. The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound t [...] (1062 aa) |
| | Rac1 | Ras-related C3 botulinum toxin substrate 1; Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarization, neurons adhesion, migration and differentiation, and growth-factor induced formation of membrane ruffles. Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity [...] (192 aa) |
| | Slc44a4 | Choline transporter-like protein 4; Choline transporter that plays a role in the choline- acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury (By similarity). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota-generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis (By similarity). Belongs to the CTL (choline transporter-like) [...] (707 aa) |
| | RT1-S3 | RT1 class Ib, locus S3; Belongs to the MHC class I family. (365 aa) |
| | Psap | Saposin-B-Val; [Prosaposin]: Behaves as a myelinotrophic and neurotrophic factor, these effects are mediated by its G-protein-coupled receptors, GPR37 and GPR37L1, undergoing ligand-mediated internalization followed by ERK phosphorylation signaling. Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta- galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha- galactosidase A (EC 3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases. Saposins are specific low-mol [...] (557 aa) |
| | Sobp | Sine oculis-binding protein homolog; Implicated in development of the cochlea. Belongs to the SOBP family. (864 aa) |
| | Fgf20 | Fibroblast growth factor 20; Neurotrophic factor that regulates central nervous development and function. May play an important role in dopaminergic neurons in the substantia nigra; Belongs to the heparin-binding growth factors family. (212 aa) |
