QuickView for OTOF (gene)

Gene Symbol:

OTOF Homo sapiens

Full name:

otoferlin

Synonyms:

AUNB1, DFNB6, DFNB9, FER1L2, NSRD9, otoferlin, fer-1-like family member 2, fer-1-like protein 2

Genomic Location:

Chr 2: 26533575-26635070

Description:

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Danio rerio ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTANTCA_UNKNOWN ,  TATAAA_TATA_01 ,  CAGGTG_E12_Q6 ,  AP4_01 ,  RNGTGGGC_UNKNOWN

Cytogenetic Map:

2p23.3

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