OTOF, Official Symbol OTOFprovided by HGNC Official Full Name otoferlinprovided by HGNC Primary source HGNC:HGNC:8515 See related Ensembl:ENSG00000115155 MIM:603681; AllianceGenome:HGNC:8515 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 AUNB1; DFNB6; DFNB9; NSRD9; FER1L2 Summary Mutations 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, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all