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Otof Gene Detail
Summary
  • Symbol
    Otof
  • Name
    otoferlin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891247
    NCBI Gene: 83762
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:30524406-30619276 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 16.48 cM, cytoband B1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3031 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 Chr5:30524406-30620073 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OTOF, otoferlin
  • Synonyms
    AUNB1, DFNB6, DFNB9, FER1L2, NSRD9
  • Links
    NCBI Gene ID: 9381
    neXtProt AC: NX_Q9HC10
    UniProt: Q9HC10

  • Chr Location
    2p23.3; chr2:26457203-26558756 (-)  GRCh38
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
    16 phenotypes from 4 alleles in 4 genetic backgrounds
    75 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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
    34
  • GO References
    11
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    728
  • Tissues
    7
  • cDNA Data
    8
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 108
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 11
      Phenotypes 75
    • 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:355459 Conrad LJ, et al., The upregulation of K(+) and HCN channels in developing spiral ganglion neurons is mediated by cochlear inner hair cells. J Physiol. 2024 Oct;602(20):5329-5351
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory