Gene Detail

Gene Symbol USH2A
Synonyms dJ1111A8.1 | RP39 | US2 | USH2
Gene Description USH2A, Usher syndrome 2A, encodes a basement membrane protein whose function is unclear but appears to be important in cochlear and retinal development. Mutations in Ush2a are commonly reported in Usher syndrome and in retinitis pigmentosa, However, mutations in various cancers have also been reported (PMID: 11788194, Cancer Res April 15, 2012 72; 3959).
Entrez Id 7399
Chromosome 1
Map Location 1q41
Canonical Transcript NM_206933

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