Property Summary

NCBI Gene PubMed Count 56
PubMed Score 307.37
PubTator Score 142.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (24)

Disease log2 FC p
gastric cancer 1.100 2.4e-02
Waldenstrons macroglobulinemia -1.572 3.2e-03
malignant mesothelioma 4.300 1.4e-09
astrocytic glioma -1.300 7.1e-03
ependymoma -1.500 1.0e-02
oligodendroglioma -1.300 7.2e-03
psoriasis -1.900 1.1e-17
group 3 medulloblastoma 2.900 9.1e-05
atypical teratoid / rhabdoid tumor 1.700 2.0e-02
medulloblastoma, large-cell 2.500 3.1e-03
Atopic dermatitis -2.600 3.8e-04
adrenocortical adenoma -1.412 4.4e-03
adrenocortical carcinoma -1.592 5.9e-07
primary pancreatic ductal adenocarcinoma -1.105 2.3e-02
non-small cell lung cancer 2.603 1.2e-11
intraductal papillary-mucinous adenoma (... -3.700 1.8e-03
intraductal papillary-mucinous carcinoma... -2.700 2.1e-02
lung cancer 4.300 1.8e-06
pancreatic cancer -1.600 1.2e-02
interstitial cystitis 2.200 2.2e-03
cystic fibrosis -1.700 4.6e-03
subependymal giant cell astrocytoma -1.215 3.7e-02
lung adenocarcinoma 1.200 1.7e-03
ovarian cancer 1.100 7.2e-04

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
22931125 Identification of a novel missense mutation in COCH in a Chinese family with autosomal dominant non-syndromic progressive sensorineural hearing loss.
22610276 the instability of mutant cochlin is the major driving force for cochlin aggregation in the inner ear in DFNA9 patients carrying the COCH p.F527C mutation
22139968 The data cannot confirm the association described previously between superior semicircular canal dehiscence and the presence of mutations in COCH gene.
21886777 Cochlin interacts with TREK-1 and annexin A2.
21774451 The phenotype associated with the I109N COCH mutation is largely similar to that associated with the I109T, P51S, G87W, and G88E mutation carriers. However, subtle differences seem to exist in terms of age of onset and rate of progression.
21046548 The onset of the hearing loss, in the 2nd or 3rd decade of life, is earlier than in most DFNA9 families. The progression of hearing loss and vestibular dysfunction in the American family is typical of other DFNA9 families with mutations in this domain.
20447147 The causative gene of autosomal dominant non-syndromic hearing loss in the Korean family and a recurrent mutation in the COCH gene, were identified.
20237496 Observational study of gene-disease association. (HuGE Navigator)
20228067 study suggests a possible molecular mechanism underlying DFNA9 hearing loss and provides an in vitro model that may be used to explore protein-misfolding diseases in genera
20105107 present in the perilymph, not in cerebrospinal fluid
19933177 Cochlin expression was effective in decreasing outflow facility and increasing pressure in cultured anterior segment, suggesting possible involvement of cochlin in IOP elevation in vivo.
19657184 By RT-PCR, we found that full-length cochlin was expressed in all organs examined, with a splice variant in the heart. By Western blot, we detected short isoforms (11-17 kDa) in the perilymph.
19161137 causative mutation in the COCH gene in American families associated with superior semicircular canal dehiscence.(280-5)
19098315 These results support the finding that the observed increased cochlin expression in glaucomatous TM is due to relative elevated abundance of transcription factors.
19013156 The second von Willebrand type A domain of cochlin has affinity for type II collagen, as well as type I and type IV collagens whereas the LCCL-domain of cochlin has no affinity for these proteins.
18312449 novel mutations in the vWFA2 domain of the COCH gene were identified in Chinese families with autosomal dominant sensorineural non-syndromic hearing loss (HL) 9
17944208 All affected family members with a COCH mutation in the vWFA2 domain shared sensorineural hearing loss with full penetrance starting between the second and fifth decade of life.
17926100 A prominent but previously unreported ribbon-like pattern of cochlin in the basilar membrane was demonstrated, suggesting an important role for cochlin in the structure of the basilar membrane.
17561763 This is a report of the audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, I109T, in the LCCL domain of COCH
17368553 Data analysis demonstrated a significant association between vertical corneal striae and the Pro51Ser and Gly88Glu mutations in the COCH gene in DFNA9 families 1, 2, and 3 with cochleovestibular dysfunction.
17264471 the phenotype associated with the novel COCH (G87W) mutation is largely similar to that associated with the P51S and G88E mutation carriers
17138532 Haplotype analysis placed the late onset autosomal dominant hereditary non-syndromic hearing loss locus within a 7.6 cM genetic interval defined by marker D14S1021 and D14S70, overlapping with the DFNA9 locus
16951386 Cochlin-specific interferon-gamma-producing T cells are implicated in the etiopathogenesis of autoimmune sensorineural hearing loss.
16835921 A new COCH mutation is identified which causes autosomal dominant hearing impairment.
15579465 Cochlin, a protein associated with deafness disorder DFNA9, is present in glaucomatous but absent in normal trabecular meshwork
14501450 A multigeneration Belgian family with late-onset progressive sensorineural hearing loss--Linkage to DFNA9 was confirmed and mutation analysis revealed a P51S mutation in the COCH gene.
12928864 findings suggest that COCH mutations are unlikely to cause abnormalities in secretion and suggest that extracellular events might cause autosomal dominant sensorineural deafness (DFNA9) pathology
11709536 Areas that express COCH mRNA as determined by in situ hybridization, and to the regions of the inner ear which show histological abnormalities in autosomal dominant sensorineural deafness and vestibular disorder, DFNA9.

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
//

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.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22931125 2013 Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
22610276 2012 A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.
22139968 2012 Absence of COCH gene mutations in patients with superior semicircular canal dehiscence.
21886777 2011 Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility.
21774451 2011 Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.
21046548 2010 A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
20447147 2010 The Trp117Arg mutation of the COCH gene causes deafness in Koreans.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20228067 2010 Role of protein misfolding in DFNA9 hearing loss.
20105107 2010 CTP (Cochlin-tomoprotein) detection in the profuse fluid leakage (gusher) from cochleostomy.
19933177 2010 COCH transgene expression in cultured human trabecular meshwork cells and its effect on outflow facility in monkey organ cultured anterior segments.
19657184 2010 Expression of cochlin mRNA splice variants in the inner ear.
19161137 2009 Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
19098315 2009 Potential for transcriptional upregulation of cochlin in glaucomatous trabecular meshwork: a combinatorial bioinformatic and biochemical analytical approach.
19013156 2008 The second von Willebrand type A domain of cochlin has high affinity for type I, type II and type IV collagens.
18312449 2008 Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.
17944208 2007 [Audiological and vestibular evaluation of new coagulation factor C homology mutation carriers in a Chinese family].
17926100 2007 Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.
17561763 2007 Phenotype description of a novel DFNA9/COCH mutation, I109T.
17368553 2007 Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.
17264471 2007 Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.
17138532 2006 [Mapping of gene underlying autosomal dominant non-syndromic hearing loss(DFNA)].
16951386 2006 Increased frequencies of cochlin-specific T cells in patients with autoimmune sensorineural hearing loss.
16835921 2006 Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).
15579465 2005 Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14512963 2003 Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.
14501450 2003 Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12928864 2003 Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.
12843317 2003 Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11709536 2001 Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.
11574466 2001 NMR structure of the LCCL domain and implications for DFNA9 deafness disorder.
11568667 2001 COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases.
11295836 2001 Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.
10400989 1999 High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.
9931344 1999 A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
9806553 1998 Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.
9441737 1997 Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9.
8817345 1996 A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13.
8417734 1993 Autosomal dominant sensorineural hearing loss. Further temporal bone findings.
7829101 1994 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.
1910721 1991 Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds.