Entity Details

Primary name TMC8
Entity type gene
Source Source Link

Details

PrimaryID147138
RefseqGeneNG_007881
SymbolTMC8
Nametransmembrane channel like 8
Chromosome17
Location17q25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-22
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTMC8_HUMAN

GO terms

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GOName
GO:0001558 regulation of cell growth
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005887 integral component of plasma membrane
GO:0008381 mechanosensitive ion channel activity
GO:0031333 negative regulation of protein-containing complex assembly
GO:0031965 nuclear membrane
GO:0032091 negative regulation of protein binding
GO:0043120 tumor necrosis factor binding
GO:0055069 zinc ion homeostasis
GO:0070062 extracellular exosome
GO:0140311 protein sequestering activity
GO:1902041 regulation of extrinsic apoptotic signaling pathway via death domain receptors

Diseases

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Disease IDSourceNameDescription
618231 OMIMEpidermodysplasia verruciformis 2 (EV2)A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
TMC8TRADDBioGRID23429285 details
TMC8TRAF1BioGRID24586810 details
TMC8TRAF2BioGRID24586810 details
TMC8TNFRSF1ABioGRID23429285 details
TMC8H1-4BioGRID, IntAct30021884 details
TMC8DDX58BioGRID32513696 details