TMC1 (transmembrane channel like 1)

2014-11-01  

Identity

HGNC
TMC1
LOCATION
9q21.13
LOCUSID
117531
ALIAS
DFNA36,DFNB11,DFNB7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 117531
MIM: 606706
HGNC: 16513
Ensembl: ENSG00000165091

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165091ENST00000297784Q8TDI8
ENSG00000165091ENST00000340019Q8TDI8
ENSG00000165091ENST00000486417A0A2R8YDJ2
ENSG00000165091ENST00000644967A0A2R8YGM2
ENSG00000165091ENST00000645053A0A2R8YDK2
ENSG00000165091ENST00000645208Q8TDI8
ENSG00000165091ENST00000645773A0A2R8YDA3
ENSG00000165091ENST00000646619A0A2R8Y434
ENSG00000165091ENST00000651183A0A494C0T8

Expression (GTEx)

0
1
2
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 IDYearTitleCitations
380664852023Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.2
380664852023Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.2
345230242022Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.7
350898862022A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family.2
365427152022GABA signaling triggered by TMC-1/Tmc delays neuronal aging by inhibiting the PKC pathway in C. elegans.4
345230242022Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.7
350898862022A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family.2
365427152022GABA signaling triggered by TMC-1/Tmc delays neuronal aging by inhibiting the PKC pathway in C. elegans.4
338241892021New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.15
338241892021New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.15
318545012020Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.10
328020422020Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families.2
331687092020Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding.18
332059152020Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.3
318545012020Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.10

Citation

Dessen P

TMC1 (transmembrane channel like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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