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| | traf3ip1 | TRAF3-interacting protein 1; Plays an inhibitory role on IL13 signaling by binding to IL13RA1 and recruits TRAF3 and DISC1 to the microtubules. Involved in the regulation of microtubule cytoskeleton organization. Is a negative regulator of microtubule stability, acting through the control of MAP4 levels. Involved in ciliogenesis (By similarity). (629 aa) |
| | esco2 | N-acetyltransferase ESCO2; Acetyltransferase required for the establishment of sister chromatid cohesion. Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together (By similarity). Essential for early development. (609 aa) |
| | nsd2 | Nuclear receptor-binding SET domain protein 2. (1461 aa) |
| | utp4 | Cirrhosis, autosomal recessive 1A (Cirhin). (685 aa) |
| | acvr1l | Receptor protein serine/threonine kinase; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. (506 aa) |
| | sec63 | SEC63 homolog, protein translocation regulator. (751 aa) |
| | rer1 | Protein RER1; Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment. (196 aa) |
| | smo | Smoothened, frizzled class receptor; Belongs to the G-protein coupled receptor Fz/Smo family. (822 aa) |
| | cldnb | Cldnb protein. (215 aa) |
| | invs | Inversin; Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. (1025 aa) |
| | amh | Anti-Mullerian hormone. (549 aa) |
| | nkx2.5 | NK2 homeobox 5. (314 aa) |
| | rsph9 | Radial spoke head protein 9 homolog; Probable component of the axonemal radial spoke head (By similarity). Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. (277 aa) |
| | gata3 | Transcription factor GATA-3. (438 aa) |
| | mcamb | Melanoma cell adhesion molecule b. (617 aa) |
| | tab2 | TGF-beta-activated kinase 1 and MAP3K7-binding protein 2; May play a role in signaling pathway. Involved in heart development. (711 aa) |
| | unc45b | Protein unc-45 homolog B; Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain (By similarity). Plays a role in sarcomere formation during muscle cell development. Required for myoseptal integrity, myofiber attachment, motility and craniofacial development. Is necessary for normal early lens development. (934 aa) |
| | nup133 | Nuclear pore complex protein Nup133; Involved in poly(A)+ RNA transport (By similarity). Involved in nephrogenesis. (1136 aa) |
| | mttp | Microsomal triglyceride transfer protein large subunit; Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B. (884 aa) |
| | ptch1 | Protein patched homolog 1. (1475 aa) |
| | jupa | Junction plakoglobin a. (729 aa) |
| | pkd2 | Polycystin-2; Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B. Can also form a functional, homotetrameric ion channel (By similarity). Functions as non-selective, voltage-gated cation channel (By similarity). Required for normal oscillation of Ca(2+) levels within cilia; these oscillations of the intraciliary Ca(2+) levels can trigger cytoplasmic Ca(2+) signaling cascades. May contribute to the release of Ca(2+) stores from the endoplasmic reticulum (By simila [...] (904 aa) |
| | smad1 | Mothers against decapentaplegic homolog 1; Involved in ventralization. May mediate Bmp2b signaling during embryonic dorsal-ventral pattern formation, and may itself be a transcriptional target for Smad5-mediated Bmp2b signaling. Belongs to the dwarfin/SMAD family. (472 aa) |
| | vangl2 | Vang-like protein 2; Plays a role in non-canonical Wnt/planar cell polarity (PCP) signaling to regulate convergent extension cell movements during gastrulation. Acts together with scrib and prickle1 and localizes prickle1 and dvl2/dsh to the plasma membrane. Has an overlapping role with kny during both convergent extension and eye development. In the eye, involved in establishing proper alignment of the anterior neural plate and midline cells expressing shha and shhb/twhh. Has indirect effects on a number of other developmental processes including notochord shape formation, neural prog [...] (526 aa) |
| | glcci1a | Glucocorticoid-induced 1a. (531 aa) |
| | mapk1 | Mitogen-activated protein kinase; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. MAP kinase subfamily. (369 aa) |
| | cdh17 | Cadherin 17, LI cadherin (liver-intestine). (868 aa) |
| | pard6gb | Par-6 partitioning defective 6-like protein gamma. (434 aa) |
| | pitx2 | Pituitary homeobox 2; Isoform a and isoform c differentially regulate mesendoderm formation and asymmetric organ development. Both isoforms regulate left-right development, but isoform a has a stronger effect on heart laterality; Belongs to the paired homeobox family. Bicoid subfamily. (314 aa) |
| | smad5 | Mothers against decapentaplegic homolog 5; Involved in ventralization. May mediate Bmp2b signaling during early phases of embryonic dorsal-ventral pattern formation. Required for initiation of Smad1 expression during gastrulation. Belongs to the dwarfin/SMAD family. (464 aa) |
| | gh1 | Growth hormone 1. (210 aa) |
| | ascl1a | Achaete-scute homolog 1a; Transcriptional regulator. May mediate transcription activation by binding to the E box-containing promoter (By similarity). Involved in neurogenesis. Required for the development of neurons in the epiphysis, acting partially redundantly with neurog1 and downstream of flh. Involved in maintaining rhombomere boundaries in the hindbrain, probably via up-regulation of delta expression. Also involved in pituitary development; required cell-autonomously in adenohypophyseal cells for endocrine differentiation and for survival of a subset of cells. (196 aa) |
| | ssbp1 | Single-stranded DNA-binding protein 1. (146 aa) |
| | shoc2 | Leucine-rich repeat protein SHOC-2; Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of raf1 kinase and stimulate raf1 activity at specialized signaling complexes (By similarity). (561 aa) |
| | ift172 | Intraflagellar transport protein 172 homolog; Required for the maintenance and formation of cilia. (1745 aa) |
| | nphp1 | Nephronophthisis 1. (667 aa) |
| | cxadr | Coxsackievirus and adenovirus receptor homolog; May function as a homophilic cell adhesion molecule and be essential for tight junction integrity. May also be involved in transepithelial migration of leukocytes through adhesive interactions with jaml. The interaction between both receptors may also mediate the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair (By similarity). (372 aa) |
| | sox9b | HMG box transcription factor Sox9b. (407 aa) |
| | abcc6a | ATP-binding cassette, sub-family C (CFTR/MRP), member 6a. (1507 aa) |
| | emp2 | Epithelial membrane protein 2; Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. May play a role in glomerular filtration. (161 aa) |
| | dstyk | Dual serine/threonine and tyrosine protein kinase; May act as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation. May induce both caspase-dependent apoptosis and caspase-independent cell death (By similarity). Plays a role in the embryonic development. (857 aa) |
| | bmp4 | Bone morphogenetic protein 4. (400 aa) |
| | gdf6a | Growth/differentiation factor 6-A; Growth factor that controls proliferation and cellular differentiation in the retina. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map. Functions maternally in dorsal/ventral patterning to induce the expression of the zygotic bmp2b and bmp4 genes and ventralize embryos. Zygotic expression does not appear to regulate axis specification, but instead functions to establish the integrity of the axial vessels during embryon [...] (404 aa) |
| | ngs | Notochord granular surface; Belongs to the intermediate filament family. (539 aa) |
| | mdm2 | E3 ubiquitin-protein ligase Mdm2; E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome. (475 aa) |
| | cyp2r1 | Cytochrome P450, family 2, subfamily R, polypeptide 1; Belongs to the cytochrome P450 family. (506 aa) |
| | jazf1b | Zinc finger protein Seson. (243 aa) |
| | cactin | Cactin; May be involved in the regulation of innate immune response (By similarity). Plays a role during early embryonic development. Involved in the formation of the anteroposterior axis with important roles also in neural development; Belongs to the CACTIN family. (835 aa) |
| | hhip | Hedgehog-interacting protein. (693 aa) |
| | ift46 | Intraflagellar transport protein 46 homolog; Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Plays a role in early embryonic development; Belongs to the IFT46 family. (355 aa) |
| | ctnnd2b | Catenin (cadherin-associated protein), delta 2b. (1210 aa) |
| | foxe3 | Forkhead box E3. (422 aa) |
| | ccm2l | CCM2-like scaffold protein. (420 aa) |
| | abcb6a | ATP-binding cassette, sub-family B (MDR/TAP), member 6a. (851 aa) |
| | abcb11b | ATP-binding cassette, sub-family B (MDR/TAP), member 11b. (1308 aa) |
| | vps18 | Vacuolar protein sorting-associated protein 18 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport pathways. Believed to act as a core component of the putative HOPS endosomal tethering complex which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion (By similarity). May be involved in vesicle trafficking to the hepatocyte apical membrane and p [...] (974 aa) |
| | mapk3 | Mitogen-activated protein kinase; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. MAP kinase subfamily. (392 aa) |
| | vhl | Von Hippel-Lindau tumor suppressor. (175 aa) |
| | usp40 | Ubiquitin-specific peptidase 40; Belongs to the peptidase C19 family. (1263 aa) |
| | camk2g1 | Calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma 1. (560 aa) |
| | brca2 | BRCA2 DNA repair-associated. (2874 aa) |
| | vclb | Vinculin b. (987 aa) |
| | cluap1 | Clusterin-associated protein 1 homolog; Required for cilia biogenesis and maintenance in the kidney, the lateral line organ and eye. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Belongs to the CLUAP1 family. (427 aa) |
| | pde6d | Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta; Promotes the release of prenylated target proteins from cellular membranes. Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location. Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E. Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI). Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasing the nucleotide [...] (150 aa) |
| | bbs1 | Bardet-Biedl syndrome 1. (588 aa) |
| | olfm2a | Olfactomedin 2a. (483 aa) |
| | bnc2 | Basonuclin-2. (1171 aa) |
| | wnt3 | Protein Wnt; Ligand for members of the frizzled family of seven transmembrane receptors; Belongs to the Wnt family. (355 aa) |
| | prdm5 | PR domain-containing 5. (634 aa) |
| | kif3a | Kinesin-like protein; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. (701 aa) |
| | fto | FTO alpha-ketoglutarate-dependent dioxygenase. (567 aa) |
| | pmela | Premelanosome protein a. (825 aa) |
| | ifnlr1 | Interferon lambda receptor 1. (573 aa) |
| | klhl31 | Kelch-like protein 31. (635 aa) |
| | nphp4 | Si:dkey-202c5.1 protein. (189 aa) |
| | crispld2 | Cysteine-rich secretory protein LCCL domain-containing 2. (512 aa) |
| | her8a | Hairy-related 8a. (221 aa) |
| | adrb2b | Adrenoceptor beta 2, surface b. (409 aa) |
| | hnf4a | Hepatocyte nuclear factor 4, alpha. (463 aa) |
| | dis3l2 | DIS3-like exonuclease 2; 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase. Essential for correct mitosis, and negatively regulates cell proliferation. Belongs to the RNR ribonuclease family. DIS3L2 subfamily. (995 aa) |
| | tmem234 | Transmembrane protein 234. (143 aa) |
| | cemip2 | Cell surface hyaluronidase; Cell surface hyaluronidase that mediates the initial cleavage of extracellular high-molecular-weight hyaluronan into intermediate- size hyaluronan. Acts as a regulator of angiogenesis in embryos by mediating degradation of extracellular hyaluronan, thereby promoting VEGF signaling. Acts as a regulator of heart development during myocardial and endocardial morphogenesis: involved in the looping stage of heart morphogenesis. Stimulates migration of endocardial cells and increases both myocardial and endocardial fusion. Involved in the restriction of endocardia [...] (1378 aa) |
| | ccdc28b | Coiled-coil domain-containing 28B. (213 aa) |
| | hsf1 | Heat shock transcription factor 1. (523 aa) |
| | iqgap2 | IQ motif-containing GTPase-activating protein 2. (1680 aa) |
| | mpp5a | MAGUK p55 subfamily member 5-A; Plays a role in tight junction biogenesis and in the establishment of cell polarity in epithelial cells (By similarity). Also involved in adherens junction biogenesis (By similarity). Functions in cellular patterning of the retina. (703 aa) |
| | disc1 | DISC1 scaffold protein. (994 aa) |
| | tert | Telomerase reverse transcriptase; Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. (1098 aa) |
| | schip1 | Schwannomin-interacting protein 1. (441 aa) |
| | tmem63c | Calcium permeable stress-gated cation channel 1; Acts as an osmosensitive calcium-permeable cation channel (By similarity). Required for the functional integrity of the kidney glomerular filtration barrier. (825 aa) |
| | eif3ba | Eukaryotic translation initiation factor 3 subunit B; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is involved in protein synthesis and, together with other initiation factors, stimulates binding of mRNA and methionyl-tRNAi to the 40S ribosome; Belongs to the eIF-3 subunit B family. (681 aa) |
| | glis2b | GLIS family zinc finger 2b. (489 aa) |
| | coq8b | Atypical kinase COQ8B, mitochondrial; Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration. (624 aa) |
| | wtip | Wilms tumor protein 1-interacting protein homolog; May monitor slit diaphragm protein assembly, a specialized adherens junction characteristic of podocytes. In case of podocyte injury, it shuttles into the nucleus and acts as a transcription regulator. Plays a role in the regulation of cell morphology and cytoskeletal organization (By similarity). Acts as a transcriptional corepressor for snai1 and snai2/slug and plays a role in regulating neural crest development (By similarity); Belongs to the zyxin/ajuba family. (648 aa) |
| | sufu | Suppressor of fused homolog. (485 aa) |
| | foxi1 | Forkhead box I1. (377 aa) |
| | sept15 | Septin 15; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family. (429 aa) |
| | apol1 | Apolipoprotein L, 1. (326 aa) |
| | uhrf1 | E3 ubiquitin-protein ligase UHRF1; Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and recruits dnmt1 methyltransferase to ensure faithful propagation of the DNA methylation patterns through DNA replication. In addition to its role in maintenance of DNA methylation, also plays a key role in chromatin modification: through its tudor-like regions and PHD-type zinc fingers, specifically recognizes and binds histone H3 trimethylate [...] (775 aa) |
| | lama1 | Laminin, alpha 1. (3075 aa) |
| | rtn4b | Reticulon. (876 aa) |
| | hhex | Hematopoietically-expressed homeobox protein hhex; Recognizes the DNA sequence 5'-ATTAA-3' (By similarity). Transcriptional repressor. Regulates the differentiation of both endothelial and blood cells. Plays a role in embryonic dorsoventral patterning by regulating bmp expression. May establish anterior identity. Functions in the embryo to regulate liver development. Functions extraembryonically to generate organ chirality. (177 aa) |
| | kirrel3l | Kirre-like nephrin family adhesion molecule 3, like. (755 aa) |
| | cep83 | Centrosomal protein of 83 kDa; Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. (725 aa) |
| | ift20 | Intraflagellar transport protein 20 homolog; Involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium. Regulates the platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway. Plays an important role in spermatogenesis, particularly spermiogenesis, when germ cells form flagella. (132 aa) |
| | cldn15lb | Claudin; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity; Belongs to the claudin family. (222 aa) |
| | alcama | CD166 antigen homolog A; Cell adhesion molecule that mediates both heterotypic cell- cell contacts via its interaction with CD6, as well as homotypic cell- cell contacts. Promotes T-cell activation and proliferation via its interactions with CD6 (By similarity). Contributes to the formation and maturation of the immunological synapse via its interactions with CD6 (By similarity). Mediates homotypic interactions with cells that express ALCAM. Mediates attachment of dendritic cells onto endothelial cells via homotypic interaction. Inhibits endothelial cell migration and promotes endothel [...] (564 aa) |
| | sox6 | SRY-box transcription factor 6. (816 aa) |
