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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
Chr5:30367062-30461932 bp, - strand
From VEGA annotation of GRCm38

  94871 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: OTOF
Gene Tree: Otof

Human
homologs
OTOF, otoferlin
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 9381
neXtProt AC: NX_Q9HC10

Human Synonyms: AUNB1, DFNB6, DFNB9, FER1L2, NSRD9

Human Chr (Location): 2p23.1; chr2:26457203-26558698 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human OTOF

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Chemically induced (ENU)(2) Radiation induced(4) Targeted(6)
Genomic Mutations involving Otof (4)
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 in Mice Using Otof (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(4)
Interactions
Otof interacts with 172 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process sensory perception of sound, synaptic vesicle exocytosis
Component apical part of cell, basal part of cell, ...
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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 15
cDNA source data(7)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase otof ; ZFIN otofa, otofb    NEW 
Molecular
reagents
All nucleic(8) cDNA(8)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000025902 (Evidence)
Ensembl Gene Model ENSMUSG00000062372 (Evidence)
Entrez Gene 83762 (Evidence)
UniGene 244502
DFCI TC1578783, TC1595223
DoTS DT.101716657, DT.101723156, DT.40144886, DT.91338745
NIA Mouse Gene Index U026045
Consensus CDS Project CCDS19157.1, CCDS51452.1
International Mouse Phenotyping Consortium Status Otof
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025902 VEGA Gene Model | MGI Sequence Detail 94871 C57BL/6J ±  kb
transcript OTTMUST00000063834 VEGA | MGI Sequence Detail 7129 Not Applicable 
polypeptide OTTMUSP00000031633 VEGA | MGI Sequence Detail 1997 Not Applicable 

For the selected sequences
All sequences(58) RefSeq(16) UniProt(4)
Polymorphisms
SNPs within 2kb(782 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000008 C2 domain
InterPro IPR012968 FerIin domain
InterPro IPR012561 Ferlin B-domain
InterPro IPR029996 Otoferlin
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:220523 Harris JA, et al., Anatomical characterization of Cre driver mice for neural circuit mapping and manipulation. Front Neural Circuits. 2014;8:76
All references(51)
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
08/25/2015
MGI 6.0
The Jackson Laboratory