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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for OTOF (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID9381
Official gene symbolOTOF
Full nameotoferlin
Aliases,AUNB1,DFNB6,DFNB9,FER1L2,NSRD9,
Gene summaryMutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq]
LocationChromosome: 2   Locus: 2p23.1
Gene position26781566 - 26680071  Map Viewer
Gene orientationminus
Gene size101496 bp
Gene sequence
OMIM ID603681