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| | ctbp2a | C-terminal-binding protein 2a. (710 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) |
| | mafba | Transcription factor MafB; May act as a transcriptional activator or repressor. Involved in neurogenesis. Involved in the development of rhombomeres (r) 5 and 6 segments from their common precursor 'proto-segment' in the hindbrain. Belongs to the bZIP family. Maf subfamily. (397 aa) |
| | chm | Rab proteins geranylgeranyltransferase component A; Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. (666 aa) |
| | chrna1 | Acetylcholine receptor subunit alpha; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. (456 aa) |
| | dlx3b | Homeobox protein Dlx3b; Involved in the development of the inner ear; Belongs to the distal-less homeobox family. (269 aa) |
| | orai1b | Calcium release-activated calcium channel protein 1; Ca(2+) release-activated Ca(2+) (CRAC) channel subunit which mediates Ca(2+) influx following depletion of intracellular Ca(2+) stores; Belongs to the Orai family. (222 aa) |
| | lamc1 | Laminin subunit gamma-1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. (1593 aa) |
| | chata | Choline O-acetyltransferase; Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. Belongs to the carnitine/choline acetyltransferase family. (637 aa) |
| | cdh23 | Cadherin-related 23. (2883 aa) |
| | crx | Cone-rod homeobox. (281 aa) |
| | glra4a | Glycine receptor, alpha 4a; Belongs to the ligand-gated ion channel (TC 1.A.9) family. (457 aa) |
| | grm6b | Glutamate receptor, metabotropic 6b. (909 aa) |
| | ryr1b | Ryanodine receptor 1b (skeletal). (5078 aa) |
| | pigk | GPI-anchor transamidase; Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein. Belongs to the peptidase C13 family. (389 aa) |
| | cacng2a | Voltage-dependent calcium channel gamma-2 subunit; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. (324 aa) |
| | tmc2b | Transmembrane channel-like protein 2-B; Belongs to the TMC family. (892 aa) |
| | glra1 | Glycine receptor subunit alphaZ1; Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Plays an important role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents. Channel activity is potentiated by ethanol (By similarity); Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA1 sub-subfamily. (459 aa) |
| | atat1 | Alpha-tubulin N-acetyltransferase 1; Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. Acetylates alpha-tubulin with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dyn [...] (305 aa) |
| | ache | Acetylcholinesterase; Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. (634 aa) |
| | nr3c1 | Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor). (746 aa) |
| | atp7a | ATPase copper-transporting alpha. (1500 aa) |
| | dhdds | Alkyl transferase; Belongs to the UPP synthase family. (335 aa) |
| | ildr1b | Immunoglobulin-like domain-containing receptor 1b. (551 aa) |
| | pglyrp5 | Peptidoglycan recognition protein 5. (238 aa) |
| | ifng1r | Interferon gamma-related. (170 aa) |
| | glrbb | Glycine receptor beta subunit 2; Belongs to the ligand-gated ion channel (TC 1.A.9) family. (494 aa) |
| | htt | Huntingtin. (3121 aa) |
| | c1ql4l | Cerebellin 5. (213 aa) |
| | slc6a9 | Transporter; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. (653 aa) |
| | irf8 | Interferon regulatory factor 8. (423 aa) |
| | lhfpl5b | LHFPL tetraspan subfamily member 5b. (221 aa) |
| | tph2 | Tryptophan hydroxylase 2 (tryptophan 5-monooxygenase). (500 aa) |
| | slc17a8 | Vesicular glutamate transporter 3; Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells; Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. (590 aa) |
| | mtmr14 | Myotubularin-related protein 14. (630 aa) |
| | cplx4a | Si:ch211-233a1.5. (159 aa) |
| | tenm3 | Teneurin-3; Involved in neural development by regulating the establishment of proper connectivity within the nervous system. Acts in both pre- and postsynaptic neurons in the hippocampus to control the assembly of a precise topographic projection: required in both CA1 and subicular neurons for the precise targeting of proximal CA1 axons to distal subiculum, probably by promoting homophilic cell adhesion (By similarity). Required by retinal ganglion cells for acquisition of their correct morphological and functional connectivity, thereby playing a key role in the development of the visu [...] (189 aa) |
| | cep131 | Centrosomal protein of 131 kDa; Cilium-specific protein required for the regulation of cilium/flagellum formation. Involved in centriole duplication (By similarity). May play a role in melanosome trafficking ; Belongs to the CEP131 family. (1111 aa) |
| | ush2a | Usher syndrome 2A (autosomal recessive, mild). (5236 aa) |
| | ddc | Dopa decarboxylase. (480 aa) |
| | cnnm2a | Cyclin and CBS domain divalent metal cation transport mediator 2a. (811 aa) |
| | nyx | Nyctalopin. (469 aa) |
| | duox | Dual oxidase. (1519 aa) |
| | shank3a | SH3 and multiple ankyrin repeat domains 3a. (1509 aa) |
| | atp1b2b | Sodium/potassium-transporting ATPase subunit beta; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. Belongs to the X(+)/potassium ATPases subunit beta family. (292 aa) |
| | atp6v0d1 | V-type proton ATPase subunit d 1; Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis. May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) p [...] (350 aa) |
| | atoh7 | Protein atonal homolog 7; Transcription factor involved in the differentiation of retinal ganglion cells. (134 aa) |
| | nbeaa | Neurobeachin a. (2998 aa) |
| | nsfa | N-ethylmaleimide-sensitive factor a. (744 aa) |
| | cdipt | CDP-diacylglycerol--inositol 3-phosphatidyltransferase. (213 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. 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 remodeling cristae and the release of cytochrome c during apoptosis (By similarity). (966 aa) |
| | ahr2 | Aryl hydrocarbon receptor 2. (1027 aa) |
| | cnnm2b | Cyclin and CBS domain divalent metal cation transport mediator 2b. (807 aa) |
| | alms1 | ALMS1 centrosome and basal body-associated protein. (2105 aa) |
| | cerkl | Ceramide kinase-like. (577 aa) |
| | pigu | Phosphatidylinositol glycan anchor biosynthesis, class U. (435 aa) |
| | get1 | Tail-anchored protein insertion receptor WRB; Receptor for ASNA1/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane. (170 aa) |
| | akap12b | A kinase (PRKA) anchor protein 12b. (1533 aa) |
| | col6a1 | Collagen, type VI, alpha 1. (1007 aa) |
| | eml1 | EMAP-like 1. (813 aa) |
| | cfap298 | Cilia- and flagella-associated protein 298; Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly. Seems to be important for initiation rather than maintenance of cilium motility. Required for correct positioning of cilia at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway. May suppress canonical Wnt signaling activity ; Belongs to the CFAP298 family. (290 aa) |
| | bbs4 | Bardet-Biedl syndrome 4. (528 aa) |
| | ush1c | Usher syndrome 1C (Autosomal recessive, severe). (548 aa) |
| | adcy1b | Adenylate cyclase 1b; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. (834 aa) |
| | tmem132e | Transmembrane protein 132E; Required for normal inner ear hair cell function and hearing. (1073 aa) |
| | lrp5 | Low density lipoprotein receptor-related protein 5. (1615 aa) |
| | tmie | Transmembrane inner ear. (231 aa) |
| | pax5 | Paired box 5. (396 aa) |
| | shank3b | SH3 and multiple ankyrin repeat domains 3b. (1631 aa) |
| | rpgrip1 | RPGR-interacting protein 1. (1342 aa) |
| | kcnma1a | Potassium large conductance calcium-activated channel, subfamily M, alpha member 1a. (1184 aa) |
| | pkd2l1 | Polycystic kidney disease 2-like 1. (790 aa) |
| | pdcd6ip | Programmed cell death 6-interacting protein. (866 aa) |
| | ap1b1 | AP complex subunit beta. (947 aa) |
| | msrb3 | Peptide-methionine (R)-S-oxide reductase; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residues. (200 aa) |
| | slc9a3r1a | Na(+)/H(+) exchange regulatory cofactor NHE-RF; 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. (384 aa) |
| | synj1 | Synaptojanin 1. (1308 aa) |
| | ifng1 | Interferon gamma 1. (179 aa) |
| | espn | Espin. (873 aa) |
| | cacna1fa | Voltage-dependent L-type calcium channel subunit alpha; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death; Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. (659 aa) |
| | met | MET proto-oncogene, receptor tyrosine kinase. (1382 aa) |
| | slc26a2 | Sulfate transporter; Sulfate transporter. May play a role in endochondral bone formation; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. (699 aa) |
| | grhl1 | Grainyhead-like transcription factor 1. (613 aa) |
| | grhl2b | Grainyhead-like transcription factor 2b. (601 aa) |
| | cyfip2 | Cytoplasmic FMR1-interacting protein; Belongs to the CYFIP family. (1252 aa) |
| | mtm1 | Myotubularin 1. (639 aa) |
| | pcdh15a | Protocadherin-related 15a. (1796 aa) |
| | eya4 | Eyes absent homolog; Belongs to the HAD-like hydrolase superfamily. EYA family. (638 aa) |
| | lamb1a | Laminin, beta 1a. (1785 aa) |
| | talpid3 | Protein TALPID3; Required for ciliogenesis and sonic hedgehog/SHH signaling. Belongs to the TALPID3 family. (1548 aa) |
| | cacna1ab | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, b. (2319 aa) |
| | stac3 | SH3 and cysteine-rich domain-containing protein 3; Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels. Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membran [...] (334 aa) |
| | dnm2a | Dynamin 2a; Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. (860 aa) |
| | slc16a6a | Solute carrier family 16 member 6a. (495 aa) |
| | nos1 | Nitric oxide synthase; Produces nitric oxide (NO). (1431 aa) |
| | slc44a4 | Choline transporter-like protein 4; Choline transporter that seems to play 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; Belongs to the CTL (choline transporter-like) family. (703 aa) |
| | cacng2b | Calcium channel, voltage-dependent, gamma subunit 2b. (321 aa) |
| | arnt2 | Aryl hydrocarbon receptor nuclear translocator 2; Transcription factor that plays a role in the development of the hypothalamo-pituitary axis. Specifically recognizes the xenobiotic response element (XRE) (By similarity). Isoform 1 acts as a transcriptional activator. Isoform 3 acts as a transcriptional repressor. (737 aa) |
| | dcc | DCC netrin 1 receptor. (1200 aa) |
| | cacna1da | Voltage-dependent L-type calcium channel subunit alpha; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death; Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. (2082 aa) |
| | pde6c | Phosphodiesterase. (852 aa) |
| | kif5aa | Kinesin family member 5A, a; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. (1033 aa) |
| | clrn1 | Clrn1 protein. (232 aa) |
| | ntrk2b | Tyrosine-protein kinase receptor. (801 aa) |
| | myo7aa | Myosin VIIAa; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (2190 aa) |
| | nptx2a | Neuronal pentraxin 2a. (433 aa) |
| | eys-2 | Protein eyes shut homolog; Required to maintain the integrity of photoreceptor cells. Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone. Belongs to the EYS family. (296 aa) |
| | kcnma1b | Uncharacterized protein. (462 aa) |
| | tomt | Transmembrane O-methyltransferase homolog; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function. Component of the 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. (259 aa) |
| | Ctbp2l | Uncharacterized protein. (531 aa) |
| | dmd | Dystrophin. (594 aa) |
| | pdhb | Pyruvate dehydrogenase E1 component subunit beta; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO2. (359 aa) |
| | denr | Density-regulated protein; May be involved in the translation of target mRNAs by scanning and recognition of the initiation codon. Involved in translation initiation; promotes recruitment of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits (By similarity). (208 aa) |
| | cntn2 | Contactin 2. (1040 aa) |
| | cc2d2a | Coiled-coil and C2 domain-containing 2A. (1675 aa) |
| | gjd1a | 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. (299 aa) |
| | robo3 | Roundabout, axon guidance receptor, homolog 3 (Drosophila). (1420 aa) |
| | rer1 | Protein RER1; Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment. (196 aa) |
| | hsp90b1 | Heat shock protein 90, beta (Grp94), member 1. (793 aa) |
