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
38167558	2024	Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene.	0
38167558	2024	Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene.	0
36717952	2023	Inhibiting KCNMA1-AS1 promotes osteogenic differentiation of HBMSCs via miR-1303/cochlin axis.	1
37709329	2023	Evaluation of hearing levels and vestibular function and the impact on cognitive performance in (pre)-symptomatic patients with DFNA9: protocol for a prospective longitudinal study (Rosetta study).	0
36717952	2023	Inhibiting KCNMA1-AS1 promotes osteogenic differentiation of HBMSCs via miR-1303/cochlin axis.	1
37709329	2023	Evaluation of hearing levels and vestibular function and the impact on cognitive performance in (pre)-symptomatic patients with DFNA9: protocol for a prospective longitudinal study (Rosetta study).	0
35020687	2022	Does Vestibulo-Ocular Reflex (VOR) Gain Correlate With Radiological Findings in the Semi-Circular Canals in Patients Carrying the p.Pro51Ser (P51S) COCH Variant Causing DFNA9? Relationship Between the Three-Dimensional Video Head Impulse Test (vHIT) and MR/CT Imaging.	0
35204720	2022	Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.	6
35020687	2022	Does Vestibulo-Ocular Reflex (VOR) Gain Correlate With Radiological Findings in the Semi-Circular Canals in Patients Carrying the p.Pro51Ser (P51S) COCH Variant Causing DFNA9? Relationship Between the Three-Dimensional Video Head Impulse Test (vHIT) and MR/CT Imaging.	0
35204720	2022	Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.	6
32939038	2021	Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.	5
33421658	2021	On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.	12
33710989	2021	A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.	2
34369416	2021	Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers.	7
32939038	2021	Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.	5

Citation

Dessen P

COCH (cochlin)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40121/coch-(cochlin)