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GeneQ18034048· pop 10· linked from 78 articles

OTOF

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Also known as AUNB1, DFNB6, DFNB9, FER1L2, NSRD9, otoferlin

Otoferlin is a protein that in humans is encoded by the OTOF gene. It is involved in vesicle membrane fusion, and mutations in the OTOF gene are associated with a genetic form of deafness.

Gene data

OTOF
Name
otoferlin
Type
protein-coding
Position
26,457,203–26,558,756 (−)
Aliases
AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
Ensembl
ENSG00000115155
RefSeq RNA
NM_001287489.2, NM_004802.4, NM_194248.3, NM_194322.3, NM_194323.3
RefSeq protein
NP_001274418.1, NP_004793.2, NP_919224.1, NP_919303.1, NP_919304.1

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].

Gene Ontology

Pathways

Protein localizationProtein localizationInsertion of tail-anchored proteins into the endoplasmic reticulum membraneInsertion of tail-anchored proteins into the endoplasmic reticulum membraneSensory processing of soundSensory processing of sound by inner hair cells of the cochleaSensory Perception

via MyGene.info

Gene · Ensembl

otoferlin

Symbol
OTOF
Biotype
Protein coding
Organism
Homo sapiens
Location
2:26,457,203-26,558,756
Strand
Reverse (−)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Show 7 more facts
HomoloGene ID
12892
found in taxon
Homo sapiens
exact match
identifiers.org/ncbigene/9381
chromosome
human chromosome 2
genomic start
26680071
genomic end
26558756
cytogenetic location
2p23.3
Sources (7)

via Wikidata · CC0

~2 min read

Encyclopedic overview

5 sections
Contents
  • Function
  • Role in deafness
  • References
  • External links
  • Further reading

Otoferlin is a protein that in humans is encoded by the OTOF gene. It is involved in vesicle membrane fusion, and mutations in the OTOF gene are associated with a genetic form of deafness.

== Function ==

Excerpted from Wikipedia’s “OTOF” article, available under the CC BY-SA 4.0 licence.

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