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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for USH2A (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID7399
Official gene symbolUSH2A
Full nameUsher syndrome 2A (autosomal recessive, mild)
Aliases,RP39,US2,USH2,dJ1111A8.1,
Gene summaryThis 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]
LocationChromosome: 1   Locus: 1q41
Gene position216596738 - 215796236  Map Viewer
Gene orientationminus
Gene size800503 bp
Gene sequence
OMIM ID608400