Version 5.4
Homo sapiens Gene: COCH
Summary
InnateDB Gene IDBG-4289.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COCH
Gene Name coagulation factor C homolog, cochlin (Limulus polyphemus)
Synonyms COCH-5B2; COCH5B2; DFNA9
Species Homo sapiens
Ensembl Gene ENSG00000100473
Encoded Proteins
IDBP-4291
coagulation factor C homolog, cochlin (Limulus polyphemus)
IDBP-237113
coagulation factor C homolog, cochlin (Limulus polyphemus)
IDBP-585984
coagulation factor C homolog, cochlin (Limulus polyphemus)
IDBP-588146
coagulation factor C homolog, cochlin (Limulus polyphemus)
IDBP-596044
coagulation factor C homolog, cochlin (Limulus polyphemus)
IDBP-592010
coagulation factor C homolog, cochlin (Limulus polyphemus)
IDBP-586219
coagulation factor C homolog, cochlin (Limulus polyphemus)
IDBP-584008
coagulation factor C homolog, cochlin (Limulus polyphemus)
IDBP-584912
coagulation factor C homolog, cochlin (Limulus polyphemus)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation from Orthologs
Summary
PMID 23684986
[Mus musculus] COCH is secreted by follicular dendritic cells to promote antibacterial innate immunity.
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]
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 Information
Type Protein coding
Genomic Location Chromosome 14:30874514-30895065
Strand Forward strand
Band q12
Transcripts
ENST00000216361 ENSP00000216361
ENST00000396618 ENSP00000379862
ENST00000460581 ENSP00000451713
ENST00000468826 ENSP00000452284
ENST00000475087 ENSP00000451528
ENST00000555117
ENST00000553772 ENSP00000452343
ENST00000556908 ENSP00000452541
ENST00000555881 ENSP00000452569
ENST00000553833
ENST00000557065 ENSP00000451629
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
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000020953
View Gene Order
ENSBTAG00000021844
Not yet available
Cross-References
SwissProt
TrEMBL G3V5X3
UniProt Splice Variant
Entrez Gene 1690
UniGene Hs.21016
RefSeq NM_001135058 NM_004086 XM_006720073
HUGO HGNC:2180
OMIM 603196
CCDS CCDS9640
HPRD 04431
IMGT
EMBL AL049830
GenPept
RNA Seq Atlas 1690

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca