Otof Gene Summary [Mouse]
Enables AP-2 adaptor complex binding activity and calcium ion binding activity. Involved in synaptic vesicle priming. Located in endoplasmic reticulum and presynaptic active zone membrane. Is active in cochlear hair cell ribbon synapse and synaptic vesicle membrane. Is expressed in brain; pons mantle layer; and rest of cerebellum ventricular layer. Used to study autosomal recessive nonsyndromic deafness 9. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 9. Orthologous to human OTOF (otoferlin). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Otof |
| Official Name | otoferlin [Source:MGI Symbol;Acc:MGI:1891247] |
| Ensembl ID | ENSMUSG00000062372 |
| Bio databases IDs | |
| Aliases | otoferlin |
| Synonyms | AUNB1, DFNB6, DFNB9, FER1L2, NSRD9, Otoferlin |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Otof often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ferlin C-terminus
- binding protein
- FerI (NUC094) domain
- calcium ion binding
- protein binding
- Protein kinase C conserved region 2 (CalB)
- C2 domain
- FerB (NUC096) domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- familial nonsyndromic hearing impairment
- autosomal recessive deafness type 9
- autosomal recessive deafness type 3
- Alzheimer disease
- auditory neuropathy
- autosomal recessive deafness
- Huntington disease
- autosomal recessive auditory neuropathy type 1
- hereditary disorder
- hearing loss
role in cell
- function
- fusion
- abnormal morphology
- exocytosis
- exocytosis by
- exocytosis in
- release in
- diameter
- priming
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent resistant lipid raft fraction
- synaptic vesicle membrane
- apical compartment
- basal compartment
- cellular membrane
- Endoplasmic Reticulum
- cytosol
- presynaptic membrane
- transport vesicles
- perikaryon
- ribbon synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Otof gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- regulation of neurotransmitter secretion
- membrane fusion
- synaptic vesicle exocytosis
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- endoplasmic reticulum membrane
- membrane
- cytosol
- Golgi membrane
- synaptic vesicle membrane
- cell projection
- basolateral plasma membrane
Molecular Function
What the gene product does at the molecular level
- calcium ion binding