COCH - cochlin Gene

Homo sapiens

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

Gene ID: 1690 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in regulation of cell shape	IMP IMP: Inferred from mutant phenotype	21886777	GOA

Cellular Component GO Annotation	Evidence	Reference	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)	≥95%

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02949	COCH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-163647	Lenalidomide-COCH-PEG2-azido		/	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