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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:51593341-51605771 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 22.11 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    141 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1278313
protein coding gene Chr12:51593273-51605773 (.)
129S1/SvImJ MGP_129S1SvImJ_G0019724
protein coding gene Chr12:50392785-50405143 (+)
A/J MGP_AJ_G0019686
protein coding gene Chr12:48618583-48631010 (+)
AKR/J MGP_AKRJ_G0019657
protein coding gene Chr12:50074264-50086696 (+)
BALB/cJ MGP_BALBcJ_G0019664
protein coding gene Chr12:48898538-48910975 (+)
C3H/HeJ MGP_C3HHeJ_G0019467
protein coding gene Chr12:50182175-50194598 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020112
protein coding gene Chr12:51960726-51973150 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017735
protein coding gene Chr12:47011307-47023024 (+)
CAST/EiJ MGP_CASTEiJ_G0019020
protein coding gene Chr12:45210647-45274054 (+)
CBA/J MGP_CBAJ_G0019439
protein coding gene Chr12:53744997-53757429 (+)
DBA/2J MGP_DBA2J_G0019553
protein coding gene Chr12:48473080-48485507 (+)
FVB/NJ MGP_FVBNJ_G0019542
protein coding gene Chr12:47916562-47928991 (+)
LP/J MGP_LPJ_G0019625
protein coding gene Chr12:50430705-50443072 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019578
protein coding gene Chr12:55358789-55371220 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020150
protein coding gene Chr12:49569956-49582378 (+)
PWK/PhJ MGP_PWKPhJ_G0018787
protein coding gene Chr12:43049022-43061575 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018581
protein coding gene Chr12:44158981-44220978 (+)
WSB/EiJ MGP_WSBEiJ_G0019071
protein coding gene Chr12:50049793-50062186 (+)



Homology
more
  • Human Ortholog
    COCH, cochlin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    COCH, cochlin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    COCH5B2, COCH-5B2, DFNA9, DFNB110
  • Links
    NCBI Gene ID: 1690
    neXtProt AC: NX_O43405
    UniProt: O43405

  • Chr Location
    14q12; chr14:30874496-30890618 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 20868
    1 human;1 mouse;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • 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
      
IDs
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
less
  • 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
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.
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
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 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 ENSMUSG00000020953 Ensembl Gene Model | MGI Sequence Detail 12431 C57BL/6J ±  kb
transcript ENSMUST00000164782 Ensembl | MGI Sequence Detail 2681 Not Applicable  
polypeptide ENSMUSP00000128127 Ensembl | MGI Sequence Detail 552 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 17
    cDNA 16
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2145007
References
more
  • Summaries
    All 51
    Developmental Gene Expression 9
    Diseases 2
    Gene Ontology 6
    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:237458 Street VA, et al., Resistance to noise-induced hearing loss in 129S6 and MOLF mice: identification of independent, overlapping, and interacting chromosomal regions. J Assoc Res Otolaryngol. 2014 Oct;15(5):721-38

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
11/06/2018
MGI 6.13
The Jackson Laboratory