Property Summary

NCBI Gene PubMed Count 56
Grant Count 58
R01 Count 43
Funding $9,486,844.87
PubMed Score 307.37
PubTator Score 142.74

Knowledge Summary

Patent

No data available

Expression

Gene RIF (38)

PMID Text
26631968 This family is the first case of a truncating COCH variant and supports the hypothesis that COCH haploinsufficiency is not the cause of hearing loss in humans.
26256111 the impaired post-translational cleavage of cochlin mutants may be associated with pathological mechanisms underlying DFNA9-related sensorineural hearing loss.
25780252 Targeted exon resequencing of selected genes using next-generation sequencing identified 3 COCH (one known, two novel) mutations in a cohort of hearing loss patients in Japan.
25230692 This is the first report showing failure of mutant cochlin transport through the secretory pathway, abolishment of cochlin secretion, and formation and retention of dimers and large multimeric intracellular aggregates
25049087 prominent in the incudomalleal joint, incudostapedial joint, and the pars tensa of the tympanic membrane
24662630 A new phenotypic and characteristic radiologic feature of DFNA9 has been discovered.
24275721 new variants in genes such as COCH is associated with nonsyndromic deafness and vestibular dysfunction.
24063017 This study suggests lack of association of both COCH and TNFA with primary open-angle glaucoma pathogenesis.
23993205 Chinese DFNA9 family associated with novel COCH mutation with genotype-phenotype correlation.
23660400 COCH and SLC26A5 mRNA are expressed in specific structures and cells of the inner ear in archival human temporal bone
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AA Sequence

MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASV      1 - 70
SSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSASFTVTKGKSSTQEATGQAVST     71 - 140
AHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQAS    141 - 210
EHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSD    211 - 280
DIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKL    281 - 350
CTHEQMMCSKTCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFS    351 - 420
FTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYDDVQGPAAAAH    421 - 490
DAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRGICRDFLESQQ              491 - 550
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Text Mined References (58)

PMID Year Title
26631968 2016 A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.
26256111 2015 Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.
25780252 2015 Detailed hearing and vestibular profiles in the patients with COCH mutations.
25230692 2014 Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.
25049087 2014 Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice.
24662630 2014 Focal sclerosis of semicircular canals with severe DFNA9 hearing impairment caused by a P51S COCH-mutation: is there a link?
24275721 2014 Genetics of dizziness: cerebellar and vestibular disorders.
24063017 2013 Analysis of COCH and TNFA variants in East Indian primary open-angle glaucoma patients.
23993205 2013 Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.
23660400 2013 RNA analysis of inner ear cells from formalin fixed paraffin embedded (FFPE) archival human temporal bone section using laser microdissection--a technical report.
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