Your Input: | |
| | PRPH2 | Peripherin-2; Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure. Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity). Belongs to the PRPH2/ROM1 family. (346 aa) |
| | VSTM4 | V-set and transmembrane domain containing 4. (319 aa) |
| | GDF11 | Growth differentiation factor 11. (406 aa) |
| | VAX2 | Ventral anterior homeobox 2. (286 aa) |
| | FOXN4 | Forkhead box N4. (518 aa) |
| | BHLHE23 | Basic helix-loop-helix family member e23. (222 aa) |
| | LHX2 | LIM homeobox 2. (406 aa) |
| | RP1 | Oxygen-regulated protein 1; Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity). (2105 aa) |
| | HIPK1 | Homeodomain interacting protein kinase 1. (1210 aa) |
| | CLCN2 | Chloride channel protein. (903 aa) |
| | NDP | Norrin; Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt- dependent activation of FZD4, suggesting the existence of a Wnt- independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible [...] (133 aa) |
| | GNAT2 | Guanine nucleotide-binding protein G(t) subunit alpha-2; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP- phosphodiesterase; Belongs to the G-alpha family. G(i/o/t/z) subfamily. (354 aa) |
| | MFSD2A | Major facilitator superfamily domain containing 2A. (454 aa) |
| | NF2 | Neurofibromin 2. (596 aa) |
| | NOTCH1 | Notch receptor 1. (2533 aa) |
| | RPL24 | 60S ribosomal protein L24; Belongs to the eukaryotic ribosomal protein eL24 family. (157 aa) |
| | PROM1 | Prominin 1. (864 aa) |
| | ACVRL1 | Receptor protein serine/threonine kinase; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. (513 aa) |
| | NR2E1 | Nuclear receptor subfamily 2 group E member 1. (385 aa) |
| | NR2E3 | Photoreceptor-specific nuclear receptor; Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression. (411 aa) |
| | IMPG2 | Interphotoreceptor matrix proteoglycan 2. (1250 aa) |
| | CALB1 | Calbindin; Buffers cytosolic calcium. May stimulate a membrane Ca(2+)- ATPase and a 3',5'-cyclic nucleotide phosphodiesterase. (261 aa) |
| | GRM6 | Glutamate metabotropic receptor 6. (871 aa) |
| | RHOJ | Ras homolog family member J. (214 aa) |
| | LAMC3 | Laminin subunit gamma 3. (1577 aa) |
| | MYPN | Myopalladin. (1320 aa) |
| | ATOH7 | Atonal bHLH transcription factor 7. (152 aa) |
| | GNAT1 | Guanine nucleotide-binding protein G(t) subunit alpha-1; Functions as signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina (By similarity). Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs), such as the photoreceptor RHO. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Activated RHO promotes GDP release and GTP binding. Signaling is mediated via downstream eff [...] (350 aa) |
| | LAMA1 | Laminin subunit alpha 1. (3032 aa) |
| | TULP1 | Tubby-like protein; Belongs to the TUB family. (546 aa) |
| | JMJD6 | Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6; Dioxygenase that can both act as a arginine demethylase and a lysyl-hydroxylase. Acts as a lysyl-hydroxylase that catalyzes 5- hydroxylation on specific lysine residues of target proteins such as U2AF2/U2AF65 and LUC7L2. Regulates RNA splicing by mediating 5- hydroxylation of U2AF2/U2AF65, affecting the pre-mRNA splicing activity of U2AF2/U2AF65. Hydroxylates its own N-terminus, which is required for homooligomerization. In addition to peptidyl-lysine 5-dioxygenase activity, may act as an RNA hydroxylase, as suggested by it [...] (414 aa) |
| | ZNF513 | Zinc finger protein 513. (542 aa) |
| | THY1 | Thy-1 cell surface antigen. (161 aa) |
| | MDM1 | Mdm1 nuclear protein. (724 aa) |
| | CHD7 | Chromodomain helicase DNA binding protein 7. (2786 aa) |
| | RP1L1 | RP1 like 1. (2046 aa) |
| | SOX8 | SRY-box 8. (534 aa) |
| | HIF1A | Hypoxia-inducible factor 1-alpha; Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Heterodimerizes with ARNT; heterodimer binds to core DNA sequenc [...] (823 aa) |
| | STAT3 | Signal transducer and activator of transcription 3; Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors. Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the interleukin-6 (IL-6)-responsive elements identified in the promoters of various acute-phase protein genes. Activated by IL31 through IL31RA (By similarity). Acts as a regulator of inflammatory response by regul [...] (770 aa) |
| | RDH13 | Retinol dehydrogenase 13 (All-trans/9-cis); Belongs to the short-chain dehydrogenases/reductases (SDR) family. (335 aa) |
| | CRB1 | Crumbs cell polarity complex component 1. (1407 aa) |
| | RD3 | Retinal degeneration 3, GUCY2D regulator. (195 aa) |
| | COL4A1 | Collagen alpha-1(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. (1669 aa) |
| | PDE6A | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; This protein participates in processes of transmission and amplification of the visual signal. (859 aa) |
| | ACTL6A | Actin-like protein 6B; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth. [...] (429 aa) |
| | ZHX2 | Zinc fingers and homeoboxes 2. (838 aa) |
| | MAN2A1 | Alpha-mannosidase. (1168 aa) |
| | TTC8 | Tetratricopeptide repeat domain 8. (501 aa) |
| | CRB2 | Crumbs cell polarity complex component 2. (1281 aa) |
| | RPE65 | Retinoid isomerohydrolase; Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore. Essential for the production of 11-cis retinal for both rod and cone photoreceptors. Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (By similarity). The soluble form binds vi [...] (533 aa) |
| | RS1 | Retinoschisin 1. (211 aa) |
| | ARHGEF15 | Rho guanine nucleotide exchange factor 15. (847 aa) |
| | NPHP4 | Nephrocystin 4. (1430 aa) |
| | LHX1 | LIM homeobox 1. (406 aa) |
| | TBC1D32 | TBC1 domain family member 32. (1296 aa) |
| | CLIC4 | Chloride intracellular channel protein 4; Can insert into membranes and form chloride ion channels. (253 aa) |
| | DCLK1-2 | Uncharacterized protein. (346 aa) |
| | LAMB2 | Uncharacterized protein. (1802 aa) |
| | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta; This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme. (867 aa) |
| | DIO3 | Thyroxine 5-deiodinase; Responsible for the deiodination of T4 (3,5,3',5'- tetraiodothyronine) into RT3 (3,3',5'-triiodothyronine) and of T3 (3,5,3'-triiodothyronine) into T2 (3,3'-diiodothyronine). RT3 and T2 are inactive metabolites. May play a role in preventing premature exposure of developing fetal tissues to adult levels of thyroid hormones. Can regulate circulating fetal thyroid hormone concentrations throughout gestation. Essential role for regulation of thyroid hormone inactivation during embryological development. (301 aa) |
| | MED1 | Mediator of RNA polymerase II transcription subunit 1; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. (1575 aa) |
| | HCN1 | Hyperpolarization activated cyclic nucleotide gated potassium channel 1. (877 aa) |
| | NECTIN1 | Nectin cell adhesion molecule 1. (515 aa) |
| | SDK2 | Sidekick cell adhesion molecule 2. (2124 aa) |
| | PTPRM | Protein tyrosine phosphatase receptor type M. (1502 aa) |
| | HIPK2 | Homeodomain interacting protein kinase 2. (1206 aa) |
| | TGIF2 | Homeobox domain-containing protein. (237 aa) |
| | AHI1 | Abelson helper integration site 1. (1172 aa) |
| | SOX9 | SRY-box transcription factor 9. (524 aa) |
| | THRB | Thyroid hormone receptor beta. (459 aa) |
| | CLN8 | TLC domain-containing protein. (278 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. (1098 aa) |
| | DSCAM | DS cell adhesion molecule. (1858 aa) |
| | SMARCD3 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3. (483 aa) |
| | DLL1 | Delta-like protein; Putative Notch ligand involved in the mediation of Notch signaling. (784 aa) |
| | CDON | Cell adhesion associated, oncogene regulated. (1247 aa) |
| | AGTPBP1 | ATP/GTP binding protein 1. (1181 aa) |
| | TFAP2B | Transcription factor AP-2 beta. (488 aa) |
| | PAX6 | Paired box protein Pax-6; Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity); Belongs to the paired homeobox family. (436 aa) |
| | RPGRIP1L | RPGRIP1 like. (1270 aa) |
| | PFDN5 | Prefoldin subunit 5; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. Represses the transcriptional activity of MYC (By similarity). (154 aa) |
| | TSPAN12 | Tetraspanin-12; Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt- dependent activation of FZD4, suggesting the existence of a Wnt- independent signaling that also [...] (305 aa) |
| | DCX | Doublecortin. (360 aa) |
| | BMPR1B | Serine/threonine-protein kinase receptor; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. (532 aa) |
| | ENSBTAP00000059410 | Uncharacterized protein. (514 aa) |
| | SMARCA4 | Transcription activator BRG1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating the calcium- dependent release of a repressor complex and the recruitment of an activator complex. In resting ne [...] (1611 aa) |
| | BMPR2 | Receptor protein serine/threonine kinase; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. (1038 aa) |
| | NAGLU | N-acetyl-alpha-glucosaminidase. (669 aa) |
| | PROX1 | Prospero homeobox 1. (737 aa) |
| | CYP1B1 | Uncharacterized protein; Belongs to the cytochrome P450 family. (539 aa) |
| | RORB | RAR related orphan receptor B. (470 aa) |
| | GNB1 | Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. (358 aa) |
| | PTF1A | Pancreas associated transcription factor 1a. (326 aa) |
| | FJX1 | Four-jointed box kinase 1. (437 aa) |
| | IGFN1 | Immunoglobulin like and fibronectin type III domain containing 1. (2728 aa) |
| | NTRK2 | Tyrosine-protein kinase receptor. (837 aa) |
| | FZD4 | Frizzled class receptor 4; Belongs to the G-protein coupled receptor Fz/Smo family. (537 aa) |
| | MFRP | Membrane frizzled-related protein. (578 aa) |
| | BBS4 | Bardet-Biedl syndrome 4 protein homolog; May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the [...] (519 aa) |
| | IHH | Hedgehog protein; Intercellular signal essential for a variety of patterning events during development. (412 aa) |
| | TCIRG1 | V-type proton ATPase subunit a; Essential component of the vacuolar proton pump (V-ATPase), a multimeric enzyme that catalyzes the translocation of protons across the membranes. Required for assembly and activity of the V-ATPase. (830 aa) |
| | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP. (855 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 (By similarity). 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). (280 aa) |
| | LPCAT1 | Lysophosphatidylcholine acyltransferase 1. (533 aa) |
| | USH1C | Harmonin; Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (By similarity). (551 aa) |
| | ACHE | Acetylcholinesterase; Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft; Belongs to the type-B carboxylesterase/lipase family. (615 aa) |
| | ROM1 | Rod outer segment membrane protein 1; Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks. Plays a role in the organization of the ROS and maintenance of ROS disk diameter (By similarity). Involved in the maintenance of the retina outer nuclear layer (By similarity); Belongs to the PRPH2/ROM1 family. (351 aa) |
| | RHO | Rhodopsin; Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth (By similarity). Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change that activates signaling via G- proteins. Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling. (348 aa) |
| | NEUROD1 | Neurogenic differentiation factor. (356 aa) |
| | NRL | Neural retina leucine zipper. (262 aa) |
| | VSX1 | Visual system homeobox 1; Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster (By similarity). May regulate the activity of the LCR and the cone opsin genes at earlier stages of development (By similarity). Dispensable in early retinal development (By similarity). (365 aa) |
| | CNTF | Ciliary neurotrophic factor. (199 aa) |
| | SDK1 | Sidekick cell adhesion molecule 1. (2080 aa) |
| | FAT3 | FAT atypical cadherin 3. (4555 aa) |
| | GPM6A | Neuronal membrane glycoprotein M6-a; Involved in neuronal differentiation, including differentiation and migration of neuronal stem cells. Plays a role in neuronal plasticity and is involved in neurite and filopodia outgrowth, filopodia motility and probably synapse formation. GPM6A-induced filopodia formation involves mitogen-activated protein kinase (MAPK) and Src signaling pathways. May be involved in neuronal NGF-dependent Ca(2+) influx. May be involved in regulation of endocytosis and intracellular trafficking of G-protein-coupled receptors (GPCRs); may enhance internalization and [...] (278 aa) |
| | RPGRIP1 | X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells; Belongs to the RPGRIP1 family. (1213 aa) |
| | CABP4 | Calcium-binding protein 4; May play a role in normal synaptic function, probably through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1F, shifting the activation range to more hyperpolarized voltages (By similarity). (279 aa) |
| | TUB | Tubby-like protein; Belongs to the TUB family. (524 aa) |
| | SLC4A5 | Anion exchange protein. (1036 aa) |
| | NEUROD4 | Neurogenic differentiation factor. (330 aa) |
| | POU4F2 | POU domain protein. (407 aa) |
| | MERTK | MER proto-oncogene, tyrosine kinase. (999 aa) |
| | LRP5 | Low-density lipoprotein receptor-related protein; Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Belongs to the LDLR family. (1629 aa) |
| | BARHL2 | BarH like homeobox 2. (380 aa) |
