Otoferlin

OTOF
Identifiers
Aliases	OTOF, AUNB1, DFNB6, DFNB9, FER1L2, NSRD9, otoferlin
External IDs	OMIM: 603681; MGI: 1891247; HomoloGene: 12892; GeneCards: OTOF; OMA:OTOF - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	26,558,756 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	30,619,276 bp
RNA expression pattern
	Top expressed in
	nucleus accumbens; ; putamen; ; caudate nucleus; ; granulocyte; ; Hypothalamus; ; gonad; ; temporal lobe; ; Amygdala; ; prefrontal cortex; ; ventricular zone;
	Top expressed in
	vestibular sensory epithelium; ; utricle; ; olfactory tubercle; ; lumbar subsegment of spinal cord; ; vestibular membrane of cochlear duct; ; molar; ; superior frontal gyrus; ; primary visual cortex; ; neuron; ; gray matter layer of cerebellum;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; molecular function;
Cellular component	integral component of membrane; cytosol; cell junction; plasma membrane; basolateral plasma membrane; synapse; synaptic vesicle membrane; endoplasmic reticulum membrane; endoplasmic reticulum; membrane; cytoplasmic vesicle;
Biological process	membrane fusion; hearing; synaptic vesicle exocytosis;
	Sources:Amigo / QuickGO
Orthologs
	9381
	83762
	ENSG00000115155
	ENSMUSG00000062372
	Q9HC10
	Q9ESF1
	NM_001287489; NM_004802; NM_194248; NM_194322; NM_194323
	NM_001100395; NM_001286421; NM_031875; NM_001313767
	NP_001274418; NP_004793; NP_919224; NP_919303; NP_919304
	NP_001093865; NP_001273350; NP_001300696; NP_114081
	Wikidata
View/Edit Human	View/Edit Mouse

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.