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Coch Gene Detail
Summary
  • Symbol
    Coch
  • Name
    cochlin
  • Synonyms
    Coch-5B2, D12H14S564E
  • Feature Type
    protein coding gene
  • IDs
    MGI:1278313
    NCBI Gene: 12810
  • Gene Overview
    MyGene.info: COCH
Location & Maps
more
  • Sequence Map
    Chr12:51593341-51605773 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12433 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 22.11 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    COCH, cochlin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    COCH, cochlin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    COCH5B2, COCH-5B2, DFNA9
  • Links
    NCBI Gene ID: 1690
    neXtProt AC: NX_O43405

  • Chr Location
    14q11.2-q13; chr14:30874535-30895079 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 20868
    1 human;1 mouse;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: COCH
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Coch mouse models; 1 with human COCH associations

Human Disease Mouse Models
       Deafness, Autosomal Dominant 9; DFNA9   OMIM: 601369 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 3 alleles in 5 genetic backgrounds
    10 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.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Targeted
    5
  • Genomic Mutations
    1 involving Coch
  • Incidental Mutations
Homozygotes for a point mutation have vestibular and hearing dysfunctions that worsen with age. Homozyogtes for a null allele have no abnormal phenotype.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 12810 NCBI Gene Model | MGI Sequence Detail 12433 C57BL/6J ±  kb
transcript NM_007728 RefSeq | MGI Sequence Detail 2683 C57BL/6  
polypeptide Q62507 UniProt | EBI | MGI Sequence Detail 552 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    141 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 16
    cDNA 15
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2145007
References
more
  • Summaries
    All 42
    Developmental Gene Expression 8
    Diseases 2
    Gene Ontology 4
    Phenotypes 10
  • Earliest
    J:39118 Crozet F, et al., Cloning of the genes encoding two murine and human cochlear unconventional type I myosins. Genomics. 1997 Mar 1;40(2):332-41
  • Latest
    J:214677 Bohnenpoll T, et al., Canonical Wnt signaling regulates the proliferative expansion and differentiation of fibrocytes in the murine inner ear. Dev Biol. 2014 Jul 1;391(1):54-65

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
07/12/2016
MGI 6.04
The Jackson Laboratory