Cochlin information

COCH
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1JBI
Identifiers
Aliases	COCH, COCH-5B2, COCH5B2, DFNA9, cochlin, DFNB110
External IDs	OMIM: 603196; MGI: 1278313; HomoloGene: 20868; GeneCards: COCH; OMA:COCH - orthologs
Gene location (Human)
Chr.	Chromosome 14 (human)
End	30,895,065 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	51,652,554 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; saphenous vein; ; Skeletal muscle tissue of biceps brachii; ; vena cava; ; Skeletal muscle tissue of rectus abdominis; ; pericardium; ; tail of epididymis; ; body of tongue; ; superior surface of tongue; ; right ventricle;
	Top expressed in
	utricle; ; vestibular membrane of cochlear duct; ; vestibular sensory epithelium; ; spleen; ; olfactory epithelium; ; lip; ; gastrula; ; decidua; ; skin of external ear; ; stria vascularis;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; collagen binding;
Cellular component	extracellular matrix; extracellular region; collagen-containing extracellular matrix; extracellular space;
Biological process	hearing; defense response to bacterium; regulation of cell shape; positive regulation of innate immune response; growth plate cartilage chondrocyte morphogenesis;
	Sources:Amigo / QuickGO
Orthologs
	1690
	12810
	ENSG00000100473
	ENSMUSG00000020953
	O43405
	Q62507
	NM_001135058; NM_004086; NM_001347720
	NM_001198835; NM_007728
	NP_001128530; NP_001334649; NP_004077
	NP_001185764; NP_031754
	Wikidata
View/Edit Human	View/Edit Mouse

Cochlin is a protein that in humans is encoded by the COCH gene.^[5]^[6] It is an extracellular matrix (ECM) protein highly abundant in the cochlea and vestibule of the inner ear, constituting the major non-collagen component of the ECM of the inner ear.^[7]^[8] The protein is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100473 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020953 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB, Miyamoto RT, Linthicum FH, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG (November 1998). "Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction". Nature Genetics. 20 (3): 299–303. doi:10.1038/3118. PMID 9806553. S2CID 16350815.
^ ^a ^b "Entrez Gene: COCH coagulation factor C homolog, cochlin (Limulus polyphemus)".
^ Robertson NG, Skvorak AB, Yin Y, Weremowicz S, Johnson KR, Kovatch KA, Battey JF, Bieber FR, Morton CC (December 1997). "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.
^ Ikezono T, Omori A, Ichinose S, Pawankar R, Watanabe A, Yagi T (March 2001). "Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1535 (3): 258–65. doi:10.1016/s0925-4439(00)00101-0. PMID 11278165.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100473 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020953 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9806553-5] Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB, Miyamoto RT, Linthicum FH, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG (November 1998). "Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction". Nature Genetics. 20 (3): 299–303. doi:10.1038/3118. PMID 9806553. S2CID 16350815.

[entrez-6] "Entrez Gene: COCH coagulation factor C homolog, cochlin (Limulus polyphemus)".

[pmid9441737-7] Robertson NG, Skvorak AB, Yin Y, Weremowicz S, Johnson KR, Kovatch KA, Battey JF, Bieber FR, Morton CC (December 1997). "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.

[pmid11278165-8] Ikezono T, Omori A, Ichinose S, Pawankar R, Watanabe A, Yagi T (March 2001). "Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1535 (3): 258–65. doi:10.1016/s0925-4439(00)00101-0. PMID 11278165.

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