Cochlin (COCH)

COCH-5B2; COCH5B2; DFNA31; DFNA9; Coagulation Factor C; Limulus Polyphemus Homolog

SPN	O333
HGNC	2180
MGI	1278313
PubMed	23684986
RGD	1308536
UniProt	O43405
Wiki	COCH

Cochlin 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.

Reference

"Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9."
Genomics 46:345-354(1997) [PubMed] [Europe PMC] [Abstract]

"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 14."
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9."
J. Med. Genet. 40:479-486(2003) [PubMed] [Europe PMC] [Abstract]

"Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear."
J. Assoc. Res. Otolaryngol. 8:435-446(2007) [PubMed] [Europe PMC] [Abstract]

"Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility."
PLoS ONE 6:E23070-E23070(2011) [PubMed] [Europe PMC] [Abstract]

"NMR structure of the LCCL domain and implications for DFNA9 deafness disorder."
EMBO J. 20:5347-5353(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction."
Nat. Genet. 20:299-303(1998) [PubMed] [Europe PMC] [Abstract]

"A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects."
Hum. Mol. Genet. 8:361-366(1999) [PubMed] [Europe PMC] [Abstract]

"High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene."
Hum. Mol. Genet. 8:1425-1429(1999) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families."
Hum. Mutat. 17:351-351(2001) [PubMed] [Europe PMC] [Abstract]

Erratum
Hum. Mutat. 18:547-548(2001)

"Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease."
Eur. J. Hum. Genet. 11:744-748(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin."
Hum. Genet. 113:406-416(2003) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)."
Am. J. Med. Genet. A 140:1791-1794(2006) [PubMed] [Europe PMC] [Abstract]

"Phenotype description of a novel DFNA9/COCH mutation, I109T."
Ann. Otol. Rhinol. Laryngol. 116:349-357(2007) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families."
Clin. Genet. 73:391-394(2008) [PubMed] [Europe PMC] [Abstract]

"A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain."
J. Mol. Med. 90:1321-1331(2012) [PubMed] [Europe PMC] [Abstract]

"Whole exome sequencing identifies a novel DFNA9 mutation, C162Y."
Clin. Genet. 83:477-481(2013) [PubMed] [Europe PMC] [Abstract]

"Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family."
Int. J. Pediatr. Otorhinolaryngol. 77:1711-1715(2013) [PubMed] [Europe PMC] [Abstract]