COCH

Also known as COCH-5B2, COCH5B2, DFNA9, cochlin, DFNB110

Cochlin is a protein that in humans is encoded by the COCH gene. It is an extracellular matrix (ECM) protein highly abundant in the cochlea and vestibule of the inner ear, constituting the major non-collagen component of the ECM of the inner ear. The protein is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively.

Gene data

COCH

Name: cochlin
Type: protein-coding
Position: 30,874,438–30,895,065 (+)
Aliases: COCH-5B2, COCH5B2, DFNA9, DFNB110
Ensembl: ENSG00000100473
RefSeq RNA: NM_001135058.2, NM_001347720.2, NM_004086.3, XM_017021071.2, XM_024449506.1
RefSeq protein: NP_001128530.1, NP_001334649.1, NP_004077.1, XP_016876560.1, XP_024305274.1

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].