Reference Gene
| Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
|---|---|---|---|---|---|---|---|
| USH2A usherin | US2 , RP39 , USH2 , dJ1111A8.1 | Homo sapiens | 72 | protein-coding | PTPRB , PTPRQ | 608400 |
Summary
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]
GeneOntology
Gene Loss events - USH2A (5 results)
| GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
|---|---|---|---|---|---|---|
| GL_3CPUGV | Chrysochloris asiatica | Afrosoricida | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |
| GL_3JAAH2 | Nannospalax galili | Rodentia | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |
| GL_FDTCVV | Erinaceus europaeus | Eulipotyphla | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |
| GL_KVV1YP | Dasypus novemcinctus | Cingulata | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |
| GL_N4ONRL | Sorex araneus | Eulipotyphla | Gene deletion | Full | No | 10.1093/icb/icy004 |