| URN | urn:agi-llid:7399 |
|---|---|
| Total Entities | 0 |
| Connectivity | 39 |
| Name | Ush2a |
| Description | Usher syndrome 2A (autosomal recessive, mild) |
| Notes | This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] |
| Ariadne Ontology | Extracellular matrix polymerization |
|---|
| GO Molecular Function | collagen binding |
|---|---|
| myosin binding |
| GO Cellular Component | membrane |
|---|---|
| extracellular region | |
| stereocilium membrane | |
| apical plasma membrane | |
| integral to membrane | |
| stereocilia ankle link complex | |
| plasma membrane | |
| cell projection | |
| photoreceptor inner segment | |
| cytoplasm | |
| stereocilium bundle | |
| photoreceptor connecting cilium | |
| stereocilia ankle link | |
| neuronal cell body | |
| basement membrane | |
| proteinaceous extracellular matrix |
| GO Biological Process | response to stimulus |
|---|---|
| maintenance of organ identity | |
| hair cell differentiation | |
| inner ear receptor cell differentiation | |
| sensory perception of light stimulus | |
| visual perception | |
| sensory perception of sound | |
| photoreceptor cell maintenance |
| Pathway | auditory mechanotransduction pathway |
|---|
| Group | Extracellular matrix polymerization |
|---|---|
| response to stimulus | |
| maintenance of organ identity | |
| hair cell differentiation | |
| inner ear receptor cell differentiation | |
| sensory perception of light stimulus | |
| visual perception | |
| sensory perception of sound | |
| photoreceptor cell maintenance | |
| collagen binding | |
| myosin binding | |
| membrane | |
| extracellular region | |
| stereocilium membrane | |
| apical plasma membrane | |
| integral to membrane | |
| stereocilia ankle link complex | |
| plasma membrane | |
| cell projection | |
| photoreceptor inner segment | |
| cytoplasm | |
| stereocilium bundle | |
| photoreceptor connecting cilium | |
| stereocilia ankle link | |
| neuronal cell body | |
| basement membrane | |
| proteinaceous extracellular matrix |
| MedScan ID | 7399 |
|---|---|
| 266765 |
| Hugo ID | 12601 |
|---|
| Human chromosome position | 1q41 |
|---|
| LocusLink ID | 7399 |
|---|---|
| 22283 | |
| 289369 | |
| 266765 |
| Alias | US2 |
|---|---|
| RP39 | |
| USH2 | |
| dJ1111A8.1 | |
| usherin | |
| usher syndrome type-2A protein | |
| usher syndrome type IIa protein | |
| Gm676 | |
| Gm983 | |
| Mush2a | |
| A930011D15Rik | |
| A930037M10Rik | |
| usher syndrome type-2A protein homolog | |
| usher syndrome type IIa protein homolog | |
| Usher syndrome 2A (autosomal recessive, mild) homolog | |
| RGD1560269 | |
| Usher syndrome 2A homolog | |
| Usher syndrome 2A (, mild) homolog | |
| OTTHUMP00000063383 | |
| OTTMUSP00000019826 | |
| OTTHUMP00000035145 | |
| Ush2a | |
| Usher syndrome 2A | |
| Usher syndrome 2A (autosomal recessive, mild) | |
| Usher syndrome 2A (autosomal recessive, mild) homolog (human) | |
| Usher syndrome 2A homolog (human) | |
| usherins | |
| A930011D15Rik(2) | |
| A930011D15 | |
| dj1111a8.2 | |
| LOC621436 | |
| A930037M10 | |
| dj1111a8.3 | |
| dj1111a8.4 | |
| extracellular matrix protein MUSH2A | |
| LOC269160 | |
| LOC391164 | |
| LOC388737 | |
| LOC241005 | |
| LOC241004 | |
| LOC241003 | |
| LOC200125 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 608400 |
|---|---|
| 613809 | |
| 276901 |
| Unigene ID | Hs.655974 |
|---|---|
| Mm.331238 | |
| Rn.200477 |
| KEGG ID | hsa:7399 |
|---|---|
| mmu:22283 | |
| rno:289369 |
| Swiss-Prot Accession | O75445 |
|---|---|
| Q2QI47 | |
| Q9D1Z8 | |
| Q8K3K1 | |
| E9QLJ9 | |
| Q9JLP3 | |
| Q5VVM9 | |
| Q6S362 | |
| Q9NS27 |
| GO ID | 0005518 |
|---|---|
| 0017022 | |
| 0035315 | |
| 0060113 | |
| 0048496 | |
| 0045494 | |
| 0050896 | |
| 0050953 | |
| 0007605 | |
| 0016324 | |
| 0005604 | |
| 0005737 | |
| 0016021 | |
| 0002142 | |
| 0032421 | |
| 0060171 | |
| 0007601 | |
| 0042995 | |
| 0005576 | |
| 0016020 | |
| 0043025 | |
| 0032391 | |
| 0001917 | |
| 0005886 | |
| 0002141 | |
| 0005578 |
| Swiss-Prot ID | USH2A_MOUSE |
|---|---|
| USH2A_RAT | |
| USH2A_HUMAN |
| Cell Localization | Cell projection |
|---|---|
| stereocilium membrane | |
| Secreted | |
| Extracellular |
| IPI ID | IPI00720231 |
|---|---|
| IPI00742431 | |
| IPI01007786 | |
| IPI00202312 | |
| IPI00289540 | |
| IPI00410150 | |
| IPI00741527 |
| Mouse chromosome position | 1 106.3 cM |
|---|
| Rat chromosome position | 13q26 |
|---|
| Homologene ID | 66151 |
|---|
| MGI ID | 1341292 |
|---|
| RGD ID | 628777 |
|---|
| Primary Cell Localization | Extracellular |
|---|