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Aliases for COCH Gene

Aliases for COCH Gene

  • Cochlin 2 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 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

Promoters for COCH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COCH on UCSC Golden Path with GeneCards custom track

Genomic Location for COCH Gene

Chromosome:
14
Start:
30,874,514 bp from pter
End:
30,895,079 bp from pter
Size:
20,566 bases
Orientation:
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:
    O43405-COCH_HUMAN
    Recommended name:
    Cochlin
    Protein Accession:
    O43405
    Secondary Accessions:
    • A8K9K9
    • D3DS84
    • Q96IU6

    Protein attributes for COCH Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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 & Families for COCH Gene

Protein Domains for COCH Gene

Suggested Antigen Peptide Sequences for COCH Gene

Graphical View of Domain Structure for InterPro Entry

O43405

UniProtKB/Swiss-Prot:

COCH_HUMAN :
  • Contains 1 LCCL domain.
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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
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

No data available for Gene Ontology (GO) - Cellular Components for COCH Gene

Pathways & Interactions 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: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:

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: -
SP7:
SP8: - - - - -
SP9: -
SP10:
SP11: -

Relevant External Links for COCH Gene

GeneLoc Exon Structure for
COCH
ECgene alternative splicing isoforms for
COCH

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, MOPED, and MaxQB for COCH Gene



SOURCE GeneReport for Unigene cluster for COCH Gene Hs.21016

mRNA Expression by UniProt/SwissProt for COCH Gene

O43405-COCH_HUMAN
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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia COCH 35
  • 99.76 (n)
  • 100 (a)
COCH 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COCH 36
  • 95 (a)
OneToOne
COCH 35
  • 92.12 (n)
  • 94.73 (a)
dog
(Canis familiaris)
Mammalia COCH 35
  • 93.27 (n)
  • 96 (a)
COCH 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Coch 16
Coch 35
  • 89.39 (n)
  • 94.36 (a)
Coch 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COCH 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COCH 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves COCH 35
  • 76.52 (n)
  • 80.11 (a)
COCH 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COCH 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coch 35
  • 67.3 (n)
  • 68 (a)
zebrafish
(Danio rerio)
Actinopterygii coch 36
  • 58 (a)
OneToOne
coch 35
  • 61.97 (n)
  • 60.57 (a)
worm
(Caenorhabditis elegans)
Secernentea mup-4 36
  • 5 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 12 (a)
OneToOne
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

ENSEMBL:
Gene Tree for COCH (if available)
TreeFam:
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
VAR_008532 Deafness, autosomal dominant, 9 (DFNA9)
VAR_008533 Deafness, autosomal dominant, 9 (DFNA9)
VAR_008534 Deafness, autosomal dominant, 9 (DFNA9)
VAR_008535 Deafness, autosomal dominant, 9 (DFNA9)
VAR_008536 Deafness, autosomal dominant, 9 (DFNA9)

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

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

HapMap Linkage Disequilibrium report
COCH
Human Gene Mutation Database (HGMD)
COCH

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

Disorders for COCH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal dominant 9
  • dfna9
dfna 9 nonsyndromic hearing loss and deafness
  • dfna 9
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
meniere's disease
  • meniere disease
labyrinthine disease
  • labyrinthine dysfunction
- elite association - COSMIC cancer census association via MalaCards
Search COCH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COCH_HUMAN
  • 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
COCH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COCH
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 67
  2. Role of protein misfolding in DFNA9 hearing loss. (PMID: 20228067) Yao J. … Yuan J. (J. Biol. Chem. 2010) 3 23
  3. COCH transgene expression in cultured human trabecular meshwork cells and its effect on outflow facility in monkey organ cultured anterior segments. (PMID: 19933177) Lee E.S. … Bhattacharya S.K. (Invest. Ophthalmol. Vis. Sci. 2010) 3 23
  4. Potential for transcriptional upregulation of cochlin in glaucomatous trabecular meshwork: a combinatorial bioinformatic and biochemical analytical approach. (PMID: 19098315) Picciani R.G. … Bhattacharya S.K. (Invest. Ophthalmol. Vis. Sci. 2009) 3 23
  5. The second von Willebrand type A domain of cochlin has high affinity for type I, type II and type IV collagens. (PMID: 19013156) Nagy I. … Patthy L. (FEBS Lett. 2008) 3 23

Products for COCH Gene

Sources for COCH Gene

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