Version 5.4
Homo sapiens Gene: OTOF
Summary
InnateDB Gene IDBG-35725.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OTOF
Gene Name otoferlin
Synonyms AUNB1; DFNB6; DFNB9; FER1L2; NSRD9
Species Homo sapiens
Ensembl Gene ENSG00000115155
Encoded Proteins
IDBP-35729
otoferlin
IDBP-35731
otoferlin
IDBP-35733
otoferlin
IDBP-294686
otoferlin
IDBP-294679
otoferlin
IDBP-368189
otoferlin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 2:26457203-26558698
Strand Reverse strand
Band p23.3
Transcripts
ENST00000338581 ENSP00000345137
ENST00000339598 ENSP00000344521
ENST00000272371 ENSP00000272371
ENST00000403946 ENSP00000385255
ENST00000402415 ENSP00000383906
ENST00000426958 ENSP00000389917
ENST00000464574
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
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
GO:0061025 membrane fusion
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0030054 cell junction
GO:0030672 synaptic vesicle membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000062372
View Gene Order
ENSBTAG00000009650
Not yet available
Cross-References
SwissProt Q9HC10
TrEMBL
UniProt Splice Variant
Entrez Gene 9381
UniGene Hs.91608
RefSeq NM_001287489 NM_004802 NM_194248 NM_194322 NM_194323 XM_005264644
HUGO HGNC:8515
OMIM 603681
CCDS CCDS1724 CCDS1725 CCDS1726 CCDS46241 CCDS74497
HPRD
IMGT
EMBL AC093378 AC108070 AF107403 AF183185 AF183186 AF183187 AK296272 CH471053
GenPept AAD26117 AAG12991 AAG12992 AAG17468 AAY15083 BAG58982 EAX00684 EAX00686
RNA Seq Atlas 9381

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