Entity Details

Primary name TMC1
Entity type gene
Source Source Link

Details

PrimaryID117531
RefseqGeneNG_008213
SymbolTMC1
Nametransmembrane channel like 1
Chromosome9
Location9q21.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTMC1_HUMAN

GO terms

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GOName
GO:0005245 voltage-gated calcium channel activity
GO:0005887 integral component of plasma membrane
GO:0008381 mechanosensitive ion channel activity
GO:0009897 external side of plasma membrane
GO:0032426 stereocilium tip
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0060005 vestibular reflex
GO:0060117 auditory receptor cell development
GO:1903169 regulation of calcium ion transmembrane transport

Diseases

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Disease IDSourceNameDescription
600974 OMIMDeafness, autosomal recessive, 7 (DFNB7)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.
606705 OMIMDeafness, autosomal dominant, 36 (DFNA36)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions

InteractorPartnerSourcesPublicationsLink
TMC1GABARAPL2IntAct20562859 details
TMC1CAND1BioGRID, IntAct21145461 details
TMC1COPS5BioGRID, IntAct21145461 details
TMC1PTPREBioGRID, IntAct28330616 details
TMC1H2BC21BioGRID, IntAct30021884 details
TMC1H2BC9BioGRID, IntAct30021884 details
TMC1DCAF4BioGRID30945288 details
TMC1CTBP2BioGRID30585266 details