COCH
Sign in to saveAlso 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.
In the Vinony graph
Within Vinony's link graph, COCH is referenced by 7 other articles, and connects out to PubMed, Ensembl genome database project and protein.
It is catalogued under topics including Extracellular matrix proteins and Genes on human chromosome 14.
Its subject is documented across 6 Wikipedia language editions.
Gene data
COCH- Name
- cochlin
- Type
- protein-coding
- Position
- 30,874,438–30,895,501 (+)
- 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].
Gene Ontology
Molecular function
via MyGene.info
Gene · Ensembl
cochlin
- Symbol
- COCH
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 14:30,874,438-30,895,501
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein COCH PDB 1jbi.png
Show 9 more facts
- HomoloGene ID
- 20868
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1690
- genomic start
- 31343720
- chromosome
- human chromosome 14
- genomic end
- 31364271
- cytogenetic location
- 14q12
- genetic association
- nonsyndromic deafness
- expressed in
- right ventricle
Sources (6)
via Wikidata · CC0
~2 min read
Encyclopedic overview
4 sectionsContents
- Structure
- Function
- References
- Further reading
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.
== Structure == Cochlin contains three protein domains: an N-terminal LCCL domain, and two copies of Von Willebrand factor type A domains.
Excerpted from Wikipedia’s “COCH” article, available under the CC BY-SA 4.0 licence.