TMC1 (transmembrane channel like 1)

2014-11-01 Affiliation

Identity

HGNC

TMC1

LOCATION

9q21.13

LOCUSID

117531

ALIAS

DFNA36,DFNB11,DFNB7

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: 117531
MIM: 606706
HGNC: 16513
Ensembl: ENSG00000165091

Variants:

dbSNP: 117531
ClinVar: 117531
TCGA: ENSG00000165091
COSMIC: TMC1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000165091	ENST00000297784	Q8TDI8
ENSG00000165091	ENST00000340019	Q8TDI8
ENSG00000165091	ENST00000486417	A0A2R8YDJ2
ENSG00000165091	ENST00000644967	A0A2R8YGM2
ENSG00000165091	ENST00000645053	A0A2R8YDK2
ENSG00000165091	ENST00000645208	Q8TDI8
ENSG00000165091	ENST00000645773	A0A2R8YDA3
ENSG00000165091	ENST00000646619	A0A2R8Y434
ENSG00000165091	ENST00000651183	A0A494C0T8

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
11850618	2002	Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.	141
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
17877751	2007	Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.	26
24827932	2014	A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.	23
18616530	2008	Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.	22
19187973	2009	Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.	22
27798174	2016	Are TMCs the Mechanotransduction Channels of Vertebrate Hair Cells?	21
18259073	2008	TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families.	20
16287143	2005	Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.	19
15605408	2005	Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.	18

Citation

Dessen P

TMC1 (transmembrane channel like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74743/tmc1