COCH

GENE INFORMATION

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Gene name

COCH (HGNC Symbol)

Synonyms

COCH-5B2, DFNA31, DFNA9

Description

Cochlin (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]

Chromosome

14

Cytoband

q12

Chromosome location (bp)

30874514 - 30895065

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100473 (version 78.38)

Entrez gene

1690

UniProt

O43405 (UniProt - Evidence at protein level)

neXtProt

NX_O43405

Antibodypedia

COCH antibodies
 

PROTEIN VIEW

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COCH-003
 
COCH-005
 
COCH-006
 
COCH-007
 
COCH-008
 
COCH-011
 
COCH-012
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COCH-003 ENSP00000451528
ENST00000475087
O43405
Show all »
Show » Show » 494 53.2 Yes 0
COCH-005 ENSP00000379862
ENST00000396618
O43405
Show all »
Show » Show » 550 59.5 Yes 0
COCH-006 ENSP00000216361
ENST00000216361
O43405
Show all »
Show » Show » 550 59.5 Yes 0
COCH-007 ENSP00000451713
ENST00000460581
G3V4C4
Show all »
Show » 438 48.1 No 0
COCH-008 ENSP00000452284
ENST00000468826
Show » 434 48 No 0
COCH-011 ENSP00000452569
ENST00000555881
G3V5X3
Show all »
Show » 202 21.7 Yes 0
COCH-012 ENSP00000452541
ENST00000556908
G3V5V4
Show all »
Show » 193 20.4 No 0