COCH (cochlin)

2003-05-01 Affiliation

Identity

HGNC

COCH

LOCATION

14q12

LOCUSID

1690

ALIAS

COCH-5B2,COCH5B2,DFNA9,DFNB110

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1690
MIM: 603196
HGNC: 2180
Ensembl: ENSG00000100473

Variants:

dbSNP: 1690
ClinVar: 1690
TCGA: ENSG00000100473
COSMIC: COCH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100473	ENST00000216361	A0A2U3TZE7
ENSG00000100473	ENST00000396618	O43405
ENSG00000100473	ENST00000460581	G3V4C4
ENSG00000100473	ENST00000468826	H0YJW4
ENSG00000100473	ENST00000475087	O43405
ENSG00000100473	ENST00000553772	G3V5G6
ENSG00000100473	ENST00000555117	A0A2R8Y3T0
ENSG00000100473	ENST00000555881	G3V5X3
ENSG00000100473	ENST00000556908	G3V5V4
ENSG00000100473	ENST00000557065	H0YJJ0
ENSG00000100473	ENST00000643575	O43405
ENSG00000100473	ENST00000644874	O43405

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
15579465	2005	Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork.	69
11709536	2001	Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.	30
16951386	2006	Increased frequencies of cochlin-specific T cells in patients with autoimmune sensorineural hearing loss.	28
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27
21886777	2011	Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility.	18
12928864	2003	Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.	17
20228067	2010	Role of protein misfolding in DFNA9 hearing loss.	14
27083884	2016	Genetics of vestibular disorders: pathophysiological insights.	14
24275721	2014	Genetics of dizziness: cerebellar and vestibular disorders.	13
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.	12

Citation

Dessen P

COCH (cochlin)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40121/coch