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Aliases for COCH Gene

Aliases for COCH Gene

  • Cochlin 2 3
  • Coagulation Factor C Homolog, Cochlin (Limulus Polyphemus) 2 3
  • COCH-5B2 3 4
  • COCH5B2 3 4
  • DFNA9 3 6
  • Coagulation Factor C (Limulus Polyphemus Homolog); Cochlin 2

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. An important paralog of this gene is MATN1.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for COCH Gene at MOPED

Post-translational modifications for COCH Gene

Antibody Products

No data available for DME Specific Peptides for COCH Gene

Domains 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

No data available for Gene Families for COCH Gene

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

Phenotypes for COCH Gene

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

Animal Models for COCH Gene

MGI Knock Outs for COCH:

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

Gene Ontology (GO) - Cellular Components for COCH Gene

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

Pathways for COCH Gene

SuperPathways for COCH Gene

No Data Available

Interacting Proteins for COCH Gene

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 for COCH Gene

Drugs for COCH Gene

(1) Novoseek inferred chemical compound relationships for COCH Gene

Compound -log(P) Hits PubMed IDs
cysteine 0 2
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for COCH

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) (12.9), Brain - Putamen (basal ganglia) (9.0), and Brain - Caudate (basal ganglia) (8.6).

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, MOPED, and MaxQB for COCH Gene

SOURCE GeneReport for Unigene cluster for COCH Gene Hs.21016

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 expressions with COCH: view

Primer Products

In Situ Assay Products

No data available for 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
(Bos Taurus)
Mammalia COCH 35
  • 92.12 (n)
  • 94.73 (a)
  • 95 (a)
(Canis familiaris)
Mammalia COCH 35
  • 93.27 (n)
  • 96 (a)
  • 96 (a)
(Mus musculus)
Mammalia Coch 35
  • 89.39 (n)
  • 94.36 (a)
Coch 16
Coch 36
  • 94 (a)
(Pan troglodytes)
Mammalia COCH 35
  • 99.76 (n)
  • 100 (a)
  • 100 (a)
(Monodelphis domestica)
Mammalia COCH 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia COCH 36
  • 83 (a)
(Gallus gallus)
Aves COCH 35
  • 76.52 (n)
  • 80.11 (a)
  • 71 (a)
(Anolis carolinensis)
Reptilia COCH 36
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia coch 35
  • 67.3 (n)
  • 68 (a)
(Danio rerio)
Actinopterygii coch 35
  • 61.97 (n)
  • 60.57 (a)
coch 36
  • 58 (a)
(Caenorhabditis elegans)
Secernentea mup-4 36
  • 5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 12 (a)
Species with no ortholog for COCH:
  • 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

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 MAF
rs1124179 -- 30,875,167(+) CAAGC(A/G)GGACT intron-variant
rs1124180 -- 30,875,277(+) TGCTC(C/T)TGCTC intron-variant
rs1569792 -- 30,875,200(+) AGCCC(G/T)ACCGC intron-variant
rs3759777 -- 30,872,737(+) CTGCC(A/T)GTGCC upstream-variant-2KB
rs7158281 -- 30,875,307(+) GGGGG(C/G)CCCTG intron-variant

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

Variant ID Type Subtype PubMed ID
esv33189 CNV Loss 17666407
nsv901581 CNV Gain 21882294
nsv832762 CNV Loss 17160897
nsv901584 CNV Loss 21882294

Relevant External Links for COCH Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

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

Disorders for COCH Gene

(1) OMIM Diseases for COCH Gene (603196)


  • 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.

(3) University of Copenhagen DISEASES for COCH Gene

(7) Novoseek inferred disease relationships for COCH Gene

Disease -log(P) Hits PubMed IDs
vestibular disorder 78.8 7
hearing loss sensorineural 78.2 9
menieres disease 72 6
deafness sensorineural 70.5 5
aqueous humor 52.9 2

Relevant External Links for COCH

Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with COCH: view

No data available for Genatlas for COCH Gene

Publications for COCH Gene

  1. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. (PMID: 9806553) Robertson N.G. … Seidman J.G. (Nat. Genet. 1998) 2 3 4
  2. 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 23
  3. 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 23
  4. 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 23
  5. NMR structure of the LCCL domain and implications for DFNA9 deafness disorder. (PMID: 11574466) Liepinsh E. … Otting G. (EMBO J. 2001) 3 4 23

Products for COCH Gene

Sources for COCH Gene

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