Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
COCH

COCH

The information on this page was automatically extracted from online scientific databases.

What is the official name of the COCH gene?

The official name of this gene is “cochlin.”

COCH is the gene's official symbol. The COCH gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the COCH gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProt (COCH_HUMAN)This link leads to a site outside Genetics Home Reference.:

Plays a role in the control of cell shape and motility in the trabecular meshwork.

How are changes in the COCH gene related to health conditions?

Genetics Home Reference provides information about nonsyndromic hearing loss, which is associated with changes in the COCH gene.
UniProt (COCH_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the COCH gene's known or predicted involvement in human disease.

Deafness, autosomal dominant, 9 (DFNA9): A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the COCH gene.
  • Deafness, autosomal dominant 9
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the COCH gene and its association with health conditions.
OMIM
Number
Title

Where is the COCH gene located?

Cytogenetic Location: 14q11.2-q13

Molecular Location on chromosome 14: base pairs 30,874,535 to 30,895,079

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The COCH gene is located on the long (q) arm of chromosome 14 between positions 11.2 and 13.

The COCH gene is located on the long (q) arm of chromosome 14 between positions 11.2 and 13.

More precisely, the COCH gene is located from base pair 30,874,535 to base pair 30,895,079 on chromosome 14.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about COCH?

You and your healthcare professional may find the following resources about COCH helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the COCH gene or gene products?

  • COCH5B2
  • COCH-5B2
  • DFNA9

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding COCH?

alternative splicing ; amino acid ; auditory ; autosomal ; autosomal dominant ; cell ; epithelium ; gene ; hair cells ; isoforms ; penetrance ; protein ; sensorineural ; spectrum ; splicing ; trabecular meshwork ; transcript ; vertigo

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: February 8, 2016