COCH Gene

Name	cochlin
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The COCH gene encodes cochlin, a predominant extracellular matrix protein that plays multiple critical roles in inner ear homeostasis and beyond. In the cochlea and vestibular organs, cochlin contributes to the structural integrity and proper organization of the sensory extracellular matrix by binding to collagen and other matrix components; disruptions in its normal integration, trafficking, and post‐translational processing are closely associated with the development of progressive sensorineural hearing loss and vestibular dysfunction in DFNA9 patients."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " Moreover, mutant forms of cochlin tend to form aberrant dimers or higher order aggregates—often due to impaired cleavage or alternative splicing that generates distinct isoforms—leading to intracellular retention and cytotoxicity, which likely underpins the early onset and rapid progression of hearing impairment."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In addition to its structural role in the inner ear, cochlin is secreted by follicular dendritic cells in lymphoid tissues where, after proteolytic cleavage, its LCCL domain functions as an innate immune mediator that enhances local cytokine production, recruits immune cells, and promotes bacterial clearance during infection."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Similarly, in the ocular trabecular meshwork the protein’s shear-induced multimerization appears to serve a mechanosensory function that can disrupt extracellular matrix integrity, leading to cell aggregation and resulting in increased outflow resistance and elevated intraocular pressure in glaucoma."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "11"}]}, {"type": "t", "text": " Finally, autoimmunity toward cochlin, as indicated by T‐cell and antibody responses against the protein, points to its potential role as an antigen in certain cases of sensorineural hearing loss."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": " Collectively, these findings underscore the pleiotropic functions of cochlin: it is indispensable for normal inner ear structure and function, modulates extracellular matrix properties in response to mechanical forces, and participates in innate immune responses; alterations in any of these roles may contribute to distinct clinical pathologies affecting auditory, vestibular, and even ocular systems.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "N G Robertson, B L Resendes, J S Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/10.22.2493"}], "href": "https://doi.org/10.1093/hmg/10.22.2493"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11709536"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11709536"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Robert Grabski, Tomasz Szul, Takako Sasaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-003-0992-7"}], "href": "https://doi.org/10.1007/s00439-003-0992-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12928864"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12928864"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ildikó Nagy, Mária Trexler, László Patthy "}, {"type": "b", "children": [{"type": "t", "text": "The second von Willebrand type A domain of cochlin has high affinity for type I, type II and type IV collagens."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.febslet.2008.10.050"}], "href": "https://doi.org/10.1016/j.febslet.2008.10.050"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19013156"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19013156"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Dorien Verdoodt, Guy Van Camp, Peter Ponsaerts, et al. "}, {"type": "b", "children": [{"type": "t", "text": "On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hear Res (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.heares.2020.108162"}], "href": "https://doi.org/10.1016/j.heares.2020.108162"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33421658"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33421658"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jinsei Jung, Han Sang Kim, Min Goo Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22855"}], "href": "https://doi.org/10.1002/humu.22855"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26256111"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26256111"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Kuwon Sekine, Tetsuo Ikezono, Tomohiro Matsumura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of cochlin mRNA splice variants in the inner ear."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Audiol Neurootol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000231634"}], "href": "https://doi.org/10.1159/000231634"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19657184"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19657184"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Bénédicte F Py, Santiago F Gonzalez, Kai Long, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cochlin produced by follicular dendritic cells promotes antibacterial innate immunity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Immunity (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.immuni.2013.01.015"}], "href": "https://doi.org/10.1016/j.immuni.2013.01.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23684986"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23684986"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Jinsei Jung, Jee Eun Yoo, Young Ho Choe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cleaved Cochlin Sequesters Pseudomonas aeruginosa and Activates Innate Immunity in the Inner Ear."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Host Microbe (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.chom.2019.02.001"}], "href": "https://doi.org/10.1016/j.chom.2019.02.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30905438"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30905438"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Sanjoy K Bhattacharya, Edward J Rockwood, Scott D Smith, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M411233200"}], "href": "https://doi.org/10.1074/jbc.M411233200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15579465"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15579465"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Manik Goel, Adam E Sienkiewicz, Renata Picciani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0023070"}], "href": "https://doi.org/10.1371/journal.pone.0023070"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21886777"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21886777"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Eun Suk Lee, B'ann T Gabelt, Jennifer A Faralli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "COCH transgene expression in cultured human trabecular meshwork cells and its effect on outflow facility in monkey organ cultured anterior segments."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.09-4521"}], "href": "https://doi.org/10.1167/iovs.09-4521"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19933177"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19933177"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Moo-Jin Baek, Hyun-Min Park, Justin M Johnson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased frequencies of cochlin-specific T cells in patients with autoimmune sensorineural hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Immunol (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4049/jimmunol.177.6.4203"}], "href": "https://doi.org/10.4049/jimmunol.177.6.4203"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16951386"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16951386"}]}]}]}
Synonyms	DFNB110, DFNA9, COCH-5B2, COCH5B2
Proteins	COCH_HUMAN
NCBI Gene ID	1690
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

COCH has 8,915 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 117 datasets.

Click the + buttons to view associations for COCH from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

COCH Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of COCH gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of COCH gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of COCH gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of COCH gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of COCH gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of COCH gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of COCH gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of COCH gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of COCH gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of COCH gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of COCH gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of COCH gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with COCH gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of COCH gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of COCH gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of COCH gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with COCH gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of COCH gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of COCH gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing COCH protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing COCH protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with COCH protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with COCH protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of COCH gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with COCH gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with COCH gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with COCH gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by COCH gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for COCH protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving COCH gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving COCH gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with COCH gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with COCH gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with COCH gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with COCH gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with COCH gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at COCH gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of COCH gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of COCH gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing COCH from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.