Entity Details

Primary name TMC8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IU68
EntryNameTMC8_HUMAN
FullNameTransmembrane channel-like protein 8
TaxID9606
Evidenceevidence at protein level
Length726
SequenceStatuscomplete
DateCreated2005-12-06
DateModified2021-06-02

Ontological Relatives

GenesTMC8

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

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR012496 TMC domainDomainDomain
IPR038900 Transmembrane channel-like proteinFamilyFamily

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

4 interactions