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Coch
Gene Detail
Symbol

Name
ID
Coch
coagulation factor C homolog (Limulus polyphemus)
MGI:1278313
Synonyms
Coch-5B2, D12H14S564E
Feature Type
protein coding gene
Genetic Map
Chromosome 12
22.11 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr12:51593341-51605773 bp, + strand
From NCBI annotation of GRCm38

  12433 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20868  Vertebrate Homology Class
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: Coch

Human
homologs
COCH, cochlin
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1690
neXtProt AC: NX_O43405

Human Synonyms: COCH5B2, COCH-5B2, DFNA9

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

Disease Associations: (1) Diseases Associated with Human COCH

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a point mutation have vestibular and hearing dysfunctions that worsen with age. Homozyogtes for a null allele have no abnormal phenotype.
 
Human Diseases Modeled in Mice Using Coch (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Coch interacts with 153 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process defense response to bacterium, positive regulation of innate immune response, ...
Component extracellular exosome, extracellular matrix, ...
Function collagen binding, protein binding
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (97)    Tissues (27)    Images (23)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 65
In situ reporter (knock in) 28
Western blot 2
RT-PCR 2
cDNA source data(14)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA COCH ; Xenbase coch    NEW 
Molecular
reagents
All nucleic(16) cDNA(15) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000020953 (Evidence)
Entrez Gene 12810 (Evidence)
UniGene 21325
DFCI TC1580499
DoTS DT.101379260, DT.50316207
NIA Mouse Gene Index U013931
Consensus CDS Project CCDS25901.1
International Mouse Phenotyping Consortium Status Coch
Sequences
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 sequences
All sequences(25) RefSeq(4) UniProt(2)
Polymorphisms
RFLP(1) : SNPs within 2kb(141 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004043 LCCL
InterPro IPR002035 von Willebrand factor, type A
Protein Ontology PR:000005683 cochlin
Graphical View of Protein Domain Structure
References
(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
All references(44)
Disease annotation references (2)
Other
accession IDs
MGI:2145007

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
07/21/2015
MGI 5.22
The Jackson Laboratory