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Otof Gene Detail
Summary
  • Symbol
    Otof
  • Name
    otoferlin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891247
    NCBI Gene: 83762
  • Gene Overview
    MyGene.info: OTOF
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:30367062-30461932 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 16.48 cM, cytoband B1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    784 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891247
protein coding gene Chr5:30367062-30462730 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029389
protein coding gene Chr5:28296830-28402198 (-)
A/J MGP_AJ_G0029355
protein coding gene Chr5:27375038-27473154 (-)
AKR/J MGP_AKRJ_G0029306
protein coding gene Chr5:28504125-28613954 (-)
BALB/cJ MGP_BALBcJ_G0029366
protein coding gene Chr5:27901806-28000008 (-)
C3H/HeJ MGP_C3HHeJ_G0029087
protein coding gene Chr5:28509913-28610041 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029819
protein coding gene Chr5:30034965-30136314 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027057
protein coding gene Chr5:24871974-24966300 (-)
CAST/EiJ MGP_CASTEiJ_G0028498
protein coding gene Chr5:27596072-27705626 (-)
CBA/J MGP_CBAJ_G0029055
protein coding gene Chr5:30618331-30732843 (-)
DBA/2J MGP_DBA2J_G0029204
protein coding gene Chr5:27565821-27661677 (-)
FVB/NJ MGP_FVBNJ_G0029162
protein coding gene Chr5:26974584-27072925 (-)
LP/J MGP_LPJ_G0029289
protein coding gene Chr5:28757832-28859582 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029191
protein coding gene Chr5:31525268-31634100 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029853
protein coding gene Chr5:28020631-28117773 (-)
PWK/PhJ MGP_PWKPhJ_G0028222
protein coding gene Chr5:26676929-26775564 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028053
protein coding gene Chr5:27353303-27463385 (-)
WSB/EiJ MGP_WSBEiJ_G0028578
protein coding gene Chr5:28094017-28194781 (-)



Homology
more
  • Human Ortholog
    OTOF, otoferlin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    OTOF, otoferlin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
  • Links
    NCBI Gene ID: 9381
    neXtProt AC: NX_Q9HC10
    UniProt: Q9HC10

  • Chr Location
    2p23.3; chr2:26457203-26558698 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 12892
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: OTOF
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Otof mouse models; 1 with human OTOF associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 4 alleles in 4 genetic backgrounds
    48 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    17
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    2
  • Endonuclease-mediated
    2
  • Radiation induced
    3
  • Spontaneous
    1
  • Targeted
    7
  • Genomic Mutations
    6 involving Otof
  • Incidental Mutations
  • Find Mice (IMSR)
  • Recombinase Activity
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000062372 Ensembl Gene Model | MGI Sequence Detail 94871 C57BL/6J ±  kb
transcript ENSMUST00000074171 Ensembl | MGI Sequence Detail 7129 Not Applicable  
polypeptide ENSMUSP00000073803 Ensembl | MGI Sequence Detail 1997 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 9
    cDNA 9

    Microarray probesets 3
References
more
  • Summaries
    All 77
    Developmental Gene Expression 3
    Diseases 3
    Gene Ontology 8
    Phenotypes 48
  • Earliest
    J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
  • Latest
    J:254993 Michalski N, et al., Otoferlin acts as a Ca(2+) sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses. Elife. 2017 Nov 7;6

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
12/11/2018
MGI 6.13
The Jackson Laboratory