COCH - cochlin Gene

Also Known as DFNA9; COCH5B2; DFNB110; COCH-5B2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1690

About COCH

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:30,874,559-30,895,615 (from NCBI)

This gene has 14 transcripts (splice variants), 195 orthologues, 12 paralogues and is associated with 3 phenotypes. Biased expression in pancreas (RPKM 45.5), prostate (RPKM 16.0) and 1 other tissue.

Summary

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. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]

COCH Products (3)

mRNA	Protein	Name
NM_001135058.2	NP_001128530.1	cochlin isoform b precursor
NM_001347720.2	NP_001334649.1	cochlin isoform a precursor
NM_004086.3	NP_004077.1	cochlin isoform b precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables collagen binding	IDA IDA: Inferred from direct assay	22610276	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21886777	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of cell shape	IMP IMP: Inferred from mutant phenotype	21886777	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	22610276	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COCH Protein Structure

LCCL

VWA

0
100
200
300
400
500
550 a.a.

Protein Preferred Names	Protein Names
cochlin	coagulation factor C homolog, cochlin (Limulus polyphemus)

Recombinant COCH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74235	Cochlin/COCH Protein, Human (HEK293, His)	O43405 (E25-Q550)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 9	DFNA9 Autosomal Dominant Nonsyndromic Deafness 9 Autosomal Dominant Deafness 9 Deafness, Autosomal Dominant, 9 Deafness, Autosomal Dominant, Type 9
Deafness, Autosomal Recessive 110	DFNB110 Autosomal Recessive Nonsyndromic Deafness 110 Autosomal Recessive Deafness 110 Deafness, Autosomal Recessive, 110
Rare Genetic Deafness	Rare Genetic Hearing Loss
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Non-Syndromic Genetic Deafness	Nonsyndromic Genetic Hearing Loss Isolated Genetic Deafness Isolated Genetic Hearing Loss Non-Syndromic Genetic Hearing Loss
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Vestibular Disease	Vestibular Diseases Vertigo, Vestibular Disorder Vestibular Disorder Diseases Of Inner Ear
Meniere Disease	Meniere'S Disease Otogenic Vertigo Ménière Disease Ménière'S Disease Mnire'S Vertigo Auditory Vertigo Aural Vertigo Meniere'S Syndrome Ménière'S Vertigo Primary Endolymphatic Hydrops Menieres Disease Vertigo, Aural Labyrinth Hydrops Labyrinthine Hydrops Labyrinthine Vertigo Ménière Syndrome Ménière Vertigo Idiopathic Endolymphatic Hydrops
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Peripheral Vertigo	Vertigo, Peripheral
Labyrinthitis	Labyrinthine Disorder Inner Ear Inflammation Otitis Interna Labyrinth Hyperaemia
Glaucoma, Primary Open Angle	Glaucoma 1, Open Angle, E Primary Open Angle Glaucoma POAG Adult-Onset Primary Open Angle Glaucoma Chronic Simple Glaucoma GLC1E Primary Open Angle Glaucoma 1e Glaucoma, Open Angle, Primary
Deafness, Autosomal Dominant 2b	DFNA2B Autosomal Dominant Nonsyndromic Deafness 2b Autosomal Dominant Deafness 2b Deafness, Autosomal Dominant, 2b Deafness, Autosomal Dominant, Type 2b
Cogan Syndrome	Cogan'S Syndrome Diffuse Interstitual Keratitis Cogans Syndrome Oculovestibuloauditory Syndrome
Deafness, Autosomal Recessive 91	DFNB91 Autosomal Recessive Nonsyndromic Deafness 91 Autosomal Recessive Deafness 91 Deafness, Autosomal Recessive, 91 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91 Deafness, Autosomal Recessive, Type 91
Intraocular Pressure Quantitative Trait Locus	Glaucoma IOPQTL Glaucoma, Susceptibility To Postinfectious Glaucoma Glaucoma With Ocular Inflammation Glaucoma Secondary To Eye Inflammation Traumatic Glaucoma Glaucoma With Concussion Of Globe Glaucoma Due To Ocular Trauma Glaucoma Associated With Ocular Trauma Glaucoma Secondary To Drugs
Deafness, Autosomal Dominant 3a	DFNA3A Autosomal Dominant Nonsyndromic Deafness 3a Autosomal Dominant Deafness 3a Deafness, Autosomal Dominant, 3a Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a Deafness, Autosomal Dominant, Type 3a
Deafness, Autosomal Dominant 56	DFNA56 Autosomal Dominant Nonsyndromic Deafness 56 Autosomal Dominant Deafness 56 Deafness, Autosomal Dominant, 56 Deafness, Autosomal Dominant, Type 56
Usher Syndrome, Type If	Usher Syndrome Type 1f USH1F Usher Syndrome, Type 1f Usher Syndrome Type If Usher Syndrome 1f Usher'S Syndrome Type 1f
Superior Semicircular Canal Dehiscence	Superior Canal Dehiscence Syndrome Superior Semicircular Canal Dehiscence Syndrome Canal Dehiscence Syndrome Superior Canal Dehiscence Superior Canal Syndrome Third Mobile Window Syndrome Scds Anemia, Sickle Cell
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Cocaine Abuse	Cocaine-Related Disorders
Deafness, Autosomal Dominant 16	DFNA16 Autosomal Dominant Nonsyndromic Deafness 16 Autosomal Dominant Deafness 16
Deafness, Autosomal Dominant 28	DFNA28 Autosomal Dominant Nonsyndromic Deafness 28 Autosomal Dominant Deafness 28 Deafness, Autosomal Dominant, 28 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28 Deafness, Autosomal Dominant, Type 28
Vascular Skin Disease	Skin Diseases, Vascular Skin Vascular Disease
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Deafness, Autosomal Dominant 22	DFNA22 Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy Autosomal Dominant Nonsyndromic Deafness 22 Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Autosomal Dominant Deafness 22 Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome DFNHCM Deafness, Autosomal Dominant, 22 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22 Deafness, Autosomal Dominant, Type 22 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Glaucomatocyclitic Crisis	Posner-Schlossman Syndrome Terrien-Viel Syndrome
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Steroid-Induced Glaucoma	Corticosteroid-Induced Glaucoma
Vertigo, Benign Recurrent	Benign Paroxysmal Positional Vertigo Bppv Vestibulopathy, Familial BRV Vertigo, Benign Paroxysmal Positional Benign Paroxysmal Positional Nystagmus Benign Recurrent Vertigo Familial Benign Recurrent Vertigo Familial Vestibulopathy Benign Paroxysmal Nystagmus Bppv - [Benign Positional Paroxysmal Vertigo]
Deafness, Autosomal Recessive 1a	DFNB1A Deafness, Digenic, Gjb2/Gjb3 Autosomal Recessive Nonsyndromic Deafness 1a Deafness, Digenic, Gjb2/Gjb6 Deafness, Digenic Gjb2/Gjb6 Autosomal Recessive Deafness 1a Deafness, Autosomal Recessive, 1a Deafness Digenic Gjb2/Gjb3 Deafness Digenic Gjb2/Gjb6 Deafness Neurosensory Autosomal Recessive 1 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 Nsrd1 Deafness, Autosomal Recessive, Type 1a
Deafness, Autosomal Dominant 10	DFNA10 Autosomal Dominant Nonsyndromic Deafness 10 Autosomal Dominant Deafness 10 Deafness, Autosomal Dominant, 10 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10 Deafness, Autosomal Dominant, Type 10
Otosclerosis	Otospongiosis
Deafness, Autosomal Recessive 12	DFNB12 Deafness, Autosomal Recessive 12, Modifier Of Autosomal Recessive Nonsyndromic Deafness 12 Autosomal Recessive Deafness 12 Deafness, Autosomal Recessive, 12 Congenital Neurosensory Deafness Autosomal Recessive 12 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 Deafness, Autosomal Recessive, Type 12
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W391701	Pomalidomide-COCH2Cl		98.52%	Unkown
HY-174799	HSP90i-COCH2CH2-PEG4-NHBoc	Ligand	/	Unkown
HY-176536	(S,R,S)-AHPC-amide-PEG5-C2-azide		/	Unkown
HY-184563S	(2S,10S,19S)-Amine-(CO-CH2-N-Me)9-CO-CH2-CH(NH-CO-CH2-CH2-2-piperidone-tetrahydropyran-pyrimidine-SO2-cyclopentane)-(CO-NH-CH2)2-CO-NH-CH(CH2-benzene)-(CO-NH-CH2)2-O-CH(cyclopropane)-COOH-7-MAD-MDCPT-d2		/	Unkown
HY-RS02949	COCH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-163647	Lenalidomide-COCH-PEG2-azido		/	Unkown
HY-RS18920	Coch Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25410	Coch Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	COCH	VGNC	VGNC:61045
Bos taurus	COCH	VGNC	VGNC:27545
Macaca mulatta	COCH	VGNC	VGNC:71288
Rattus norvegicus	COCH	RGD	RGD:1308536
Canis familiaris	COCH	VGNC	VGNC:39447
Mus musculus	COCH	MGD	MGI:1278313
Others	COCH	NCBI