COCH

Coagulation factor C homolog, cochlin (Limulus polyphemus)
PDB rendering based on 1jbi.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1jbi​
Identifiers
Symbols	COCH ; COCH-5B2; COCH5B2; DFNA31; DFNA9
External IDs	Template:OMIM5 Template:MGI HomoloGene: 20868
Gene ontology Biological process Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Coagulation factor C homolog, cochlin (Limulus polyphemus), also known as COCH, is a human 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.

Further reading

• Khetarpal U, Schuknecht HF, Gacek RR, Holmes LB (1991). "Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds". Arch. Otolaryngol. Head Neck Surg. 117 (9): 1032–42. PMID 1910721.CS1 maint: Multiple names: authors list (link)
• Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA; et al. (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Khetarpal U (1993). "Autosomal dominant sensorineural hearing loss. Further temporal bone findings". Arch. Otolaryngol. Head Neck Surg. 119 (1): 106–8. PMID 8417734.
• Manolis EN, Yandavi N, Nadol JB; et al. (1997). "A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13". Hum. Mol. Genet. 5 (7): 1047–50. PMID 8817345.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Robertson NG, Skvorak AB, Yin Y; et al. (1998). "Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9". Genomics. 46 (3): 345–54. doi:10.1006/geno.1997.5067. PMID 9441737.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Robertson NG, Lu L, Heller S; et al. (1998). "Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction". Nat. Genet. 20 (3): 299–303. doi:10.1038/3118. PMID 9806553.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• de Kok YJ, Bom SJ, Brunt TM; et al. (1999). "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 (2): 361–6. PMID 9931344.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fransen E, Verstreken M, Verhagen WI; et al. (1999). "High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene". Hum. Mol. Genet. 8 (8): 1425–9. PMID 10400989.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kamarinos M, McGill J, Lynch M, Dahl H (2001). "Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families". Hum. Mutat. 17 (4): 351. doi:10.1002/humu.37. PMID 11295836.CS1 maint: Multiple names: authors list (link)
• Boulassel MR, Tomasi JP, Deggouj N, Gersdorff M (2001). "COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases". Otol. Neurotol. 22 (5): 614–8. PMID 11568667.CS1 maint: Multiple names: authors list (link)
• Liepinsh E, Trexler M, Kaikkonen A; et al. (2001). "NMR structure of the LCCL domain and implications for DFNA9 deafness disorder". EMBO J. 20 (19): 5347–53. doi:10.1093/emboj/20.19.5347. PMID 11574466.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Robertson NG, Resendes BL, Lin JS; et al. (2002). "Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9". Hum. Mol. Genet. 10 (22): 2493–500. PMID 11709536.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Robertson NG, Hamaker SA, Patriub V; et al. (2003). "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 (7): 479–86. PMID 12843317.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Grabski R, Szul T, Sasaki T; et al. (2003). "Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin". Hum. Genet. 113 (5): 406–16. doi:10.1007/s00439-003-0992-7. PMID 12928864.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Clark HF, Gurney AL, Abaya E; et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lemaire FX, Feenstra L, Huygen PL; et al. (2004). "Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family". Otol. Neurotol. 24 (5): 743–8. PMID 14501450.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Usami S, Takahashi K, Yuge I; et al. (2004). "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 (10): 744–8. doi:10.1038/sj.ejhg.5201043. PMID 14512963.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Anderson NL, Polanski M, Pieper R; et al. (2004). "The human plasma proteome: a nonredundant list developed by combination of four separate sources". Mol. Cell Proteomics. 3 (4): 311–26. doi:10.1074/mcp.M300127-MCP200. PMID 14718574.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)