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 zebrafish

Gene Tree: Coch

Human homologs

Human Homolog		COCH, cochlin
NCBI Gene ID		1690
neXtProt AC		NX_O43405
Human Synonyms		COCH5B2, COCH-5B2, DFNA9
Human Chr (Location)		14q11.2-q13; chr14:31343741-31359822 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human COCH

Alleles and phenotypes

All alleles(5) : Targeted(5)
 

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 Using Mouse Coch (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (4 annotations)

Process	regulation of cell shape, sensory perception of sound
Component	extracellular region
Function	molecular_function

External Resources: FuncBase

Expression

Literature Summary: (6 records)
Data Summary: Results (97)    Tissues (23)    Images (23)
Theiler Stages: 23, 28

Assay Type	Results
RNA in situ	65
In situ reporter (knock in)	28
Western blot	2
RT-PCR	2

cDNA source data(14)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

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 Knockout Project Status	Coch

Sequences

Length	Strain/Species
genomic	12810	NCBI Gene Model | MGI Sequence Detail	12433	C57BL/6J
transcript	NM_007728	RefSeq | MGI Sequence Detail	2683	C57BL/6
polypeptide	Q62507	UniProt | EBI | MGI Sequence Detail	552	Not Applicable

All sequences(25) RefSeq(4) UniProt(2)

Polymorphisms

RFLP(1) : SNPs(51 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:178162 Trowe MO, et al., Impaired stria vascularis integrity upon loss of E-cadherin in basal cells. Dev Biol. 2011 Nov 1;359(1):95-107
All references(42)

Other accession IDs

MGI:2145007