USH2A, Official Symbol USH2Aprovided by HGNC Official Full Name usherinprovided by HGNC Primary source HGNC:HGNC:12601 See related Ensembl:ENSG00000042781 MIM:608400; AllianceGenome:HGNC:12601 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as US2; RP39; USH2; dJ1111A8.1 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] Expression Biased expression in liver (RPKM 1.7), testis (RPKM 0.3) and 1 other tissue See more Orthologs mouse all