Version 5.4
Mus musculus Gene: Otof
Summary
InnateDB Gene IDBG-145565.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Otof
Gene Name otoferlin
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000062372
Encoded Proteins
IDBP-145567
otoferlin
IDBP-251077
otoferlin
IDBP-535625
otoferlin
IDBP-539391
otoferlin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000115155:
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 Information
Type Protein coding
Genomic Location Chromosome 5:30367066-30461932
Strand Reverse strand
Band B1
Transcripts
ENSMUST00000074171 ENSMUSP00000073803
ENSMUST00000114747 ENSMUSP00000110395
ENSMUST00000144125 ENSMUSP00000120679
ENSMUST00000150734
ENSMUST00000133509 ENSMUSP00000120591
ENSMUST00000128177
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0035612 AP-2 adaptor complex binding
Biological Process
GO:0007605 sensory perception of sound
GO:0016079 synaptic vesicle exocytosis
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0030054 cell junction
GO:0030672 synaptic vesicle membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000115155
View Gene Order
ENSBTAG00000009650
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.244502
RefSeq NM_001100395 NM_031875 XM_006504205 XM_006504206 XM_006504207 XM_006504208 XM_006504209
OMIM
CCDS CCDS19157 CCDS51452
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca