COCH cochlin

Gene ID: 1690, updated on 3-Apr-2024
Gene type: protein coding
Also known as: DFNA9; COCH5B2; DFNB110; COCH-5B2

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal dominant nonsyndromic hearing loss 9 MedGen: C1832425OMIM: 601369GeneReviews: Genetic Hearing Loss Overview	See labs
Hearing loss, autosomal recessive 110 MedGen: C4748162OMIM: 618094GeneReviews: Not available	See labs

Genomic context

Location:: 14q12

Sequence:: Chromosome: 14; NC_000014.9 (30874559..30895615)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for COCH variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
COCH database
dbVar
Link from Gene to dbVar
Hereditary Hearing Loss Homepage
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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