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Aliases for COCH Gene

Aliases for COCH Gene

  • Cochlin 2 3 3 5
  • Coagulation Factor C Homolog, Cochlin (Limulus Polyphemus) 2 3
  • COCH-5B2 3 4
  • COCH5B2 3 4
  • Coagulation Factor C (Limulus Polyphemus Homolog); Cochlin 2
  • DFNA9 3

External Ids for COCH Gene

Previous HGNC Symbols for COCH Gene

  • DFNA31
  • DFNA9

Previous GeneCards Identifiers for COCH Gene

  • GC14P028719
  • GC14P025131
  • GC14P029333
  • GC14P030413
  • GC14P031343
  • GC14P011460

Summaries for COCH Gene

Entrez Gene Summary for COCH Gene

  • 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]

GeneCards Summary for COCH Gene

COCH (Cochlin) is a Protein Coding gene. Diseases associated with COCH include Deafness, Autosomal Dominant 9 and Dfna 9 Nonsyndromic Hearing Loss And Deafness. GO annotations related to this gene include collagen binding. An important paralog of this gene is VIT.

UniProtKB/Swiss-Prot for COCH Gene

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

Gene Wiki entry for COCH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COCH Gene

Genomics for COCH Gene

Regulatory Elements for COCH Gene

Enhancers for COCH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F030850 0.2 ENCODE 12.2 -24.4 -24398 0.1 COCH ENSG00000258558
GH14F030848 1.1 Ensembl ENCODE 12.1 -25.3 -25275 1.3 PKNOX1 ZNF384 CEBPG RAD21 RELA YY1 EED HNF4G THAP11 GATAD2A COCH ENSG00000258558
GH14F030822 0.7 ENCODE 7.6 -52.2 -52235 0.2 HDAC1 CBX3 ARNT TBL1XR1 CHAMP1 GATA2 SIRT6 CREM SMARCA5 ZBTB2 COCH ENSG00000258558 GC14P030822
GH14F030873 0.6 ENCODE 7.4 +0.2 192 1.9 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 SLC30A9 GLIS2 ZNF143 ZNF207 COCH AP4S1 LOC100506071
GH14F031273 0.8 Ensembl ENCODE 4.1 +399.5 399459 1.1 GATAD2A CTCF JUN RAD21 ZNF316 IKZF1 SMC3 ZNF580 FOS MAFK ENSG00000203546 HECTD1 COCH NARSP1 ENSG00000199291 GC14M031259
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around COCH on UCSC Golden Path with GeneCards custom track

Promoters for COCH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001456267 -14 601 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 SLC30A9 GLIS2 ZNF143 ZNF207

Genomic Location for COCH Gene

30,874,514 bp from pter
30,895,079 bp from pter
20,566 bases
Plus strand

Genomic View for COCH Gene

Genes around COCH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COCH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COCH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COCH Gene

Proteins for COCH Gene

  • Protein details for COCH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8K9K9
    • D3DS84
    • Q96IU6

    Protein attributes for COCH Gene

    550 amino acids
    Molecular mass:
    59483 Da
    Quaternary structure:
    • Monomer (PubMed:22610276). May form homodimer (PubMed:22610276). Interacts with type II collagen (PubMed:22610276). Interacts with SLC44A2 (PubMed:17926100). Interacts with ANXA2 (PubMed:21886777).

    Three dimensional structures from OCA and Proteopedia for COCH Gene

    Alternative splice isoforms for COCH Gene


neXtProt entry for COCH Gene

Post-translational modifications for COCH Gene

No data available for DME Specific Peptides for COCH Gene

Domains & Families for COCH Gene

Gene Families for COCH Gene

Protein Domains for COCH Gene

Suggested Antigen Peptide Sequences for COCH Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 LCCL domain.
  • Contains 1 LCCL domain.
  • Contains 2 VWFA domains.
genes like me logo Genes that share domains with COCH: view

Function for COCH Gene

Molecular function for COCH Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the control of cell shape and motility in the trabecular meshwork.

Gene Ontology (GO) - Molecular Function for COCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21886777
GO:0005518 collagen binding IDA 22610276
genes like me logo Genes that share ontologies with COCH: view
genes like me logo Genes that share phenotypes with COCH: view

Human Phenotype Ontology for COCH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COCH Gene

MGI Knock Outs for COCH:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COCH Gene

Localization for COCH Gene

Subcellular locations from UniProtKB/Swiss-Prot for COCH Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Jensen Localization Image for COCH Gene COMPARTMENTS Subcellular localization image for COCH gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
golgi apparatus 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for COCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix IEA,IDA 22610276
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with COCH: view

Pathways & Interactions for COCH Gene

SuperPathways for COCH Gene

No Data Available

Gene Ontology (GO) - Biological Process for COCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA --
GO:0008360 regulation of cell shape IMP 21886777
GO:0042742 defense response to bacterium IEA --
GO:0045089 positive regulation of innate immune response IEA --
genes like me logo Genes that share ontologies with COCH: view

No data available for Pathways by source and SIGNOR curated interactions for COCH Gene

Drugs & Compounds for COCH Gene

(1) Drugs for COCH Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with COCH: view

Transcripts for COCH Gene

Unigene Clusters for COCH Gene

Coagulation factor C homolog, cochlin (Limulus polyphemus):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COCH Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: - - - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - -
SP6: -
SP8: - - - - -
SP9: -
SP11: -

Relevant External Links for COCH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COCH Gene

mRNA expression in normal human tissues for COCH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COCH Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x12.9), Brain - Putamen (basal ganglia) (x9.0), and Brain - Caudate (basal ganglia) (x8.6).

Protein differential expression in normal tissues from HIPED for COCH Gene

This gene is overexpressed in Cerebrospinal fluid (25.6), Seminal vesicle (8.8), Urine (7.5), Vitreous humor (7.4), and Pancreatic juice (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COCH Gene

NURSA nuclear receptor signaling pathways regulating expression of COCH Gene:


SOURCE GeneReport for Unigene cluster for COCH Gene:


mRNA Expression by UniProt/SwissProt for COCH Gene:

Tissue specificity: Expressed in inner ear structures; the cochlea and the vestibule.
genes like me logo Genes that share expression patterns with COCH: view

Primer Products

No data available for Protein tissue co-expression partners for COCH Gene

Orthologs for COCH Gene

This gene was present in the common ancestor of animals.

Orthologs for COCH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia COCH 34 35
  • 99.76 (n)
(Canis familiaris)
Mammalia COCH 34 35
  • 93.27 (n)
(Bos Taurus)
Mammalia COCH 34 35
  • 92.12 (n)
(Mus musculus)
Mammalia Coch 34 16 35
  • 89.39 (n)
(Monodelphis domestica)
Mammalia COCH 35
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia COCH 35
  • 83 (a)
(Gallus gallus)
Aves COCH 34 35
  • 76.52 (n)
(Anolis carolinensis)
Reptilia COCH 35
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia coch 34
  • 67.3 (n)
(Danio rerio)
Actinopterygii coch 34 35
  • 61.97 (n)
(Caenorhabditis elegans)
Secernentea mup-4 35
  • 5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 12 (a)
Species where no ortholog for COCH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COCH Gene

Gene Tree for COCH (if available)
Gene Tree for COCH (if available)

Paralogs for COCH Gene

genes like me logo Genes that share paralogs with COCH: view

Variants for COCH Gene

Sequence variations from dbSNP and Humsavar for COCH Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs121908927 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369], Pathogenic 30,877,686(+) CATAG(C/G/T)ATATG intron-variant, reference, missense
rs121908928 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369], Pathogenic 30,878,834(+) AGGGG(A/G/T)ACCTG intron-variant, reference, missense
rs121908929 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369], Pathogenic 30,878,920(+) CTAGA(C/T)GGTCT intron-variant, reference, missense
rs121908930 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369], Pathogenic 30,878,897(+) TGGCA(A/T)CCAGT intron-variant, reference, missense
rs121908931 Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369], Pathogenic 30,878,926(+) GGTCT(A/G)CTTCT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COCH Gene

Variant ID Type Subtype PubMed ID
dgv3605n54 CNV loss 21841781
esv33189 CNV loss 17666407
nsv564169 CNV gain 21841781
nsv832762 CNV loss 17160897

Variation tolerance for COCH Gene

Residual Variation Intolerance Score: 58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.94; 89.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COCH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COCH Gene

Disorders for COCH Gene

MalaCards: The human disease database

(16) MalaCards diseases for COCH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 9
  • autosomal dominant nonsyndromic deafness 9
dfna 9 nonsyndromic hearing loss and deafness
  • dfna 9
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
vestibular disease
  • vertigo, vestibular disorder
meniere's disease
  • meniere disease
- elite association - COSMIC cancer census association via MalaCards
Search COCH in MalaCards View complete list of genes associated with diseases


  • 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:0000269 PubMed:10400989, ECO:0000269 PubMed:11295836, ECO:0000269 PubMed:14512963, ECO:0000269 PubMed:16835921, ECO:0000269 PubMed:17561763, ECO:0000269 PubMed:18312449, ECO:0000269 PubMed:22610276, ECO:0000269 PubMed:22931125, ECO:0000269 PubMed:23993205, ECO:0000269 PubMed:9806553, ECO:0000269 PubMed:9931344}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COCH

Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with COCH: view

No data available for Genatlas for COCH Gene

Publications for COCH Gene

  1. Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear. (PMID: 17926100) Kommareddi P.K. … Carey T.E. (J. Assoc. Res. Otolaryngol. 2007) 3 4 22 64
  2. Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. (PMID: 12928864) Grabski R. … Sztul E. (Hum. Genet. 2003) 3 4 22 64
  3. Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. (PMID: 12843317) Robertson N.G. … Morton C.C. (J. Med. Genet. 2003) 3 4 22 64
  4. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. (PMID: 11295836) Kamarinos M. … Dahl H.-H.M. (Hum. Mutat. 2001) 3 4 22 64
  5. NMR structure of the LCCL domain and implications for DFNA9 deafness disorder. (PMID: 11574466) Liepinsh E. … Otting G. (EMBO J. 2001) 3 4 22 64

Products for COCH Gene

Sources for COCH Gene

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