| Gene Information | |
|---|---|
| Gene Name | USH2A |
| Organism | Homo sapiens (Human) |
| Gene Length | 5202 |
| Protein Names | Usherin (Usher syndrome type IIa protein) (Usher syndrome type-2A protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000042781 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | NA |
| Gene Card | USH2A |
| Uniprot ID | O75445 |
| Pfam | PF00041; PF00053; PF02210; PF00055 |
| In ASD | no |
| Allosteric Prediction | no (-0.785753159) |
| Ortholog in Animals | Alpaca_ USH2A ( ortholog_one2one ) Dog_ USH2A ( ortholog_one2one ) GuineaPig_ USH2A ( ortholog_one2one ) Macaque_ USH2A ( ortholog_one2one ) Mouse_ Ush2a ( ortholog_one2one ) Rat_ Ush2a ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | LAMB2, LAMC3, NTN4, LAMB1, LAMA3, LAMC1, ATRNL1, LAMA2, TMEFF2, ATRN, NTN1, NTN3, LAMC2, TMEFF1, LAMA1, AGRN, LAMB4, NTNG2, NTNG1, LAMA4, MEGF9, MEGF8, LAMB3, EGFLAM, LAMA5, NTN5, HSPG2 |
| Tissue | pineal.gland |
| Tissue Specificity | Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch's layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea. {ECO:0000269|PubMed:11788194, ECO:0000269|PubMed:12433396, ECO:0000269|PubMed:15015129, ECO:0000269|PubMed:9624053}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.08(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | NA |
| DBSNP | rs1381795491 rs10779261 rs1171672823 rs397518026 rs45500891 rs111033280 rs748465849 rs1553250805 rs121912599 rs758303489 rs397517963 rs369522997 rs780308389 rs750651679 rs949082769 rs121912600 rs1423536179 rs35730265 rs1415484067 rs1393503590 rs111033273 rs35818432 rs200496467 rs1571668556 rs1805048 rs45555435 rs696723 rs1212098704 rs80338902 rs111033282 rs397518006 rs201527662 rs727503735 rs547581739 rs761656866 rs766108245 rs1805049 rs373599651 rs111033333 rs56222536 rs771088957 rs770329105 rs1571941511 rs200209833 rs375668376 rs41302239 rs75698489 rs114402911 rs149202379 rs6657250 rs111033450 rs10864219 rs79444516 rs1177455978 rs41277212 rs41277210 rs201386640 rs111033394 rs368681648 rs56385601 rs189748047 rs398124620 rs750687826 rs1424639717 rs201863550 rs111033262 rs111033529 rs59174500 rs12118814 rs41277200 rs754774098 rs56056328 rs41277194 rs56032526 rs1453306308 rs11120645 rs4129843 rs527236118 rs111033263 rs148660051 rs553202000 rs10864198 rs368049814 rs1416602859 rs1308924086 rs200372118 rs527236119 rs111033264 rs111033439 rs1553261372 rs202175091 rs115403785 rs1402464909 rs778158900 rs527236139 rs11120616 rs765306173 rs35309576 rs41303285 rs1472714005 rs182741276 rs142381713 rs1571953381 rs111033275 rs754560357 rs199605265 rs148556640 rs745371873 rs372137776 rs1553252475 rs527236137 rs201238640 rs111033381 rs753330544 rs139474806 rs768893227 rs138879998 rs730254 rs1350039852 rs376077079 rs527236124 rs1369860869 rs41302237 rs80338904 rs45549044 rs12085354 rs397517990 rs113447586 rs199851839 rs143344549 rs41315587 rs143275144 rs200570742 rs77211159 rs200949691 rs56136489 rs754834155 rs41308435 rs56038610 rs145771342 rs111033435 rs111033269 rs58257972 |
| Subcellular location [CC] | Cell projection, stereocilium membrane {ECO:0000269|PubMed:14676276}; Single-pass type I membrane protein {ECO:0000269|PubMed:14676276}. Note=Component of the interstereocilia ankle links in the inner ear sensory cells. In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment that surrounds the connecting cilia called periciliary membrane complex. {ECO:0000250|UniProtKB:Q2QI47}.; [Isoform 2]: Secreted. |
| Mouse PG classification | HPG |
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