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Otof
Gene Detail
 Symbol
Name
ID
Otof
otoferlin
MGI:1891247
Feature Type protein coding gene
Genetic Map
Chromosome 5
16.48 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr5:30370076-30461932 bp, - strand
From VEGA annotation of GRCm38

  91857 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12892  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Otof

Human
homologs
Human Homolog OTOF, otoferlin
NCBI Gene ID 9381
neXtProt AC  NX_Q9HC10
Human Synonyms  AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
Human Chr (Location)  2p23.1; chr2:26457203-26558698 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human OTOF
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Chemically induced (ENU)(2) Radiation induced(3) Targeted(6)
Genomic Mutations involving Otof (3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.
 
Human Diseases Modeled Using Mouse Otof (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Otof interacts with 172 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process sensory perception of sound, synaptic vesicle exocytosis
Component cell, cell junction, ...
Function AP-2 adaptor complex binding, calcium ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (15)    Tissues (2)    Images (15)
Theiler Stages: 23
Assay TypeResults
RNA in situ 15
cDNA source data(7)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(8) cDNA(8)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000025902 (Evidence)
Ensembl Gene ModelENSMUSG00000062372 (Evidence)
Entrez Gene83762 (Evidence)
UniGene244502
DFCITC1578783, TC1595223
DoTSDT.101716657, DT.101723156, DT.40144886, DT.91338745
NIA Mouse Gene IndexU026045
Consensus CDS ProjectCCDS19157.1, CCDS51452.1
International Mouse Knockout Project StatusOtof
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025902 VEGA Gene Model | MGI Sequence Detail 91857 C57BL/6J ±  kb
transcript OTTMUST00000063834 VEGA | MGI Sequence Detail 6150 Not Applicable 
polypeptide OTTMUSP00000031633 VEGA | MGI Sequence Detail 1997 Not Applicable 

For the selected sequences
All sequences(59) RefSeq(18) UniProt(4)
Polymorphisms SNPs within 2kb(779 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000008 C2 calcium-dependent membrane targeting
InterPro IPR012968 FerIin domain
InterPro IPR012561 Ferlin B-domain
Protein Ontology PR:000012072 otoferlin
References (Earliest) J:69074 Yasunaga S, et al., OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Am J Hum Genet. 2000 Sep;67(3):591-600
(Latest) J:205573 Neef J, et al., Modes and regulation of endocytic membrane retrieval in mouse auditory hair cells. J Neurosci. 2014 Jan 15;34(3):705-16
All references(46)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory