Entity Details

Primary name OTOF
Entity type gene
Source Source Link

Details

PrimaryID9381
RefseqGeneNG_009937
SymbolOTOF
Nameotoferlin
Chromosome2
Location2p23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-03-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsOTOF_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0005509 calcium ion binding
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0007009 plasma membrane organization
GO:0007605 sensory perception of sound
GO:0016021 integral component of membrane
GO:0016079 synaptic vesicle exocytosis
GO:0016082 synaptic vesicle priming
GO:0016323 basolateral plasma membrane
GO:0030672 synaptic vesicle membrane
GO:0035612 AP-2 adaptor complex binding
GO:0042995 cell projection
GO:0045048 protein insertion into ER membrane
GO:0048787 presynaptic active zone membrane
GO:0061025 membrane fusion

Diseases

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Disease IDSourceNameDescription
601071 OMIMDeafness, autosomal recessive, 9 (DFNB9)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.
601071 OMIMDeafness, autosomal recessive, 9 (DFNB9)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
OTOFSTK39BioGRID14563843 details
OTOFSRPK2BioGRID26167880 details
OTOFB2MBioGRID, IntAct30021884 details
OTOFHMGB2BioGRID, IntAct30021884 details
OTOFH2BC9BioGRID, IntAct30021884 details
OTOFH2BC21BioGRID, IntAct30021884 details