COCH

Protein identityUniProt · HPA

UniProt accession

O43405

Gene

COCH

Ensembl

ENSG00000100473

Chromosome

14

Canonical length

550 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins, Transporters

Subcellular location

Vesicles

Secretome location

Secreted in other tissues

Quaternary structure

Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

550 residues, UniProt reviewed canonical sequence.

>O43405|COCH
     1  MSAAWIPALG LGVCLLLLPG PAGSEGAAPI AITCFTRGLD IRKEKADVLC PGGCPLEEFS
    61  VYGNIVYASV SSICGAAVHR GVISNSGGPV RVYSLPGREN YSSVDANGIQ SQMLSRWSAS
   121  FTVTKGKSST QEATGQAVST AHPPTGKRLK KTPEKKTGNK DCKADIAFLI DGSFNIGQRR
   181  FNLQKNFVGK VALMLGIGTE GPHVGLVQAS EHPKIEFYLK NFTSAKDVLF AIKEVGFRGG
   241  NSNTGKALKH TAQKFFTVDA GVRKGIPKVV VVFIDGWPSD DIEEAGIVAR EFGVNVFIVS
   301  VAKPIPEELG MVQDVTFVDK AVCRNNGFFS YHMPNWFGTT KYVKPLVQKL CTHEQMMCSK
   361  TCYNSVNIAF LIDGSSSVGD SNFRLMLEFV SNIAKTFEIS DIGAKIAAVQ FTYDQRTEFS
   421  FTDYSTKENV LAVIRNIRYM SGGTATGDAI SFTVRNVFGP IRESPNKNFL VIVTDGQSYD
   481  DVQGPAAAAH DAGITIFSVG VAWAPLDDLK DMASKPKESH AFFTREFTGL EPIVSDVIRG
   541  ICRDFLESQQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COCH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

473 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COCH.

Disease | AllUniProt

Conditions COCH is implicated in, by any mechanism.

• Deafness, autosomal dominant, 9 (DFNA9) MIM:601369
• Deafness, autosomal recessive, 110 (DFNB110) MIM:618094

Disease | GeneticClinVar

35 pathogenic / likely-pathogenic of 348 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal dominant nonsyndromic hearing loss 9
• Hearing loss, autosomal recessive 110
• Rare genetic deafness
• Genetic hearing loss
• Hearing impairment

ReferencesPubMed · IEDB

Publications for COCH from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.91

gnomAD pLI

0

gnomAD missense Z

0.68

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• regulation of cell shape
• sensory perception of sound

Molecular functions

• collagen binding

Cellular components

• extracellular matrix
• extracellular region

Protein domainsUniProt · Pfam · InterPro

• von Willebrand factor, type A
• LCCL domain
• von Willebrand factor A-like domain superfamily
• LCCL domain superfamily
• Extracellular Matrix Assembly and Organization
• von Willebrand factor type A domain
• LCCL domain

KeywordsUniProt

• Deafness
• Disulfide bond
• Extracellular matrix
• Glycoprotein
• Hearing
• Non-syndromic deafness
• Repeat
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of COCH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ANXA2
• SLC44A2