InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COCH

Summary

InnateDB Protein

IDBP-237113.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COCH

Protein Name

coagulation factor C homolog, cochlin (Limulus polyphemus)

Synonyms

COCH-5B2; COCH5B2; DFNA9;

Species

Homo sapiens

Ensembl Protein

ENSP00000379862

InnateDB Gene

IDBG-4289 (COCH)

Protein Structure

UniProt Annotation

Function

Plays a role in the control of cell shape and motility in the trabecular meshwork. {ECO:0000269PubMed:21886777}.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000269PubMed:12843317}.

Disease Associations

Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]: 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. {ECO:0000269PubMed:10400989, ECO:0000269PubMed:11295836, ECO:0000269PubMed:14512963, ECO:0000269PubMed:22931125, ECO:0000269PubMed:9806553, ECO:0000269PubMed:9931344}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in inner ear structures; the cochlea and the vestibule.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0007605	sensory perception of sound
GO:0008360	regulation of cell shape
GO:0042742	defense response to bacterium
GO:0045089	positive regulation of innate immune response