TMC8
entrez
147138
canonical
uniprot
Q8IU68
canonical
ensembl
ENSG00000167895
resolver
ensp
ENSP00000325561
resolver
genesymbol
TMC8
resolver
genesymbol_syn
EVER2
resolver
genesymbol_syn
EVIN2
resolver
hgnc
HGNC:20474
resolver
uniprot
B3KXZ8
resolver
uniprot
Q2YDC0
resolver
uniprot
Q8IWU7
resolver
uniprot
Q8N358
resolver
uniprot
Q8NF04
resolver
uniprot_entry
B3KXZ8_HUMAN
resolver
uniprot_entry
TMC8_HUMAN
resolver
uniprot_sec
Q2YDC0
resolver
uniprot_sec
Q8IWU7
resolver
uniprot_sec
Q8N358
resolver
uniprot_sec
Q8NF04
resolver
amino_acid_sequence
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQRWQRRRQTVERRLREAAQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSPPGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQAPLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTILCIGRDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSIHSSWDCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKWHLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFPSGAEL
uniprot
proteins
disease_involvement
DISEASE: Epidermodysplasia verruciformis 2 (EV2) [MIM:618231]: 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. {ECO:0000269|PubMed:12426567, ECO:0000269|PubMed:28646613}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a regulatory protein involved in the regulation of numerous cellular processes (PubMed:18158319, PubMed:23429285, PubMed:30068544, PubMed:32917726). Together with its homolog TMC6/EVER1, forms a complex with calcium-binding protein CIB1 in lymphocytes and keratynocytes where TMC6 and TMC8 stabilize CIB1 levels and reciprocally (PubMed:30068544, PubMed:32917726). Together with TMC6, also forms a complex with and activates zinc transporter ZNT1 at the ER membrane of keratynocytes, thereby facilitating zinc uptake into the ER (PubMed:18158319). Also inhibits receptor-mediated calcium release from ER stores and calcium activated and volume regulated chloride channels (PubMed:25220380). Down-regulates the activity of transcription factors induced by zinc and cytokines (PubMed:18158319). Also sequesters TRADD which impairs the recruitment of TRAF2 and RIPK1 in the pro-survival complex I and promotes proapoptotic complex II formation, and may therefore be involved in TNF-induced cell death/survival decisions (PubMed:23429285). {ECO:0000269|PubMed:18158319, ECO:0000269|PubMed:23429285, ECO:0000269|PubMed:25220380, ECO:0000269|PubMed:30068544, ECO:0000269|PubMed:32917726}.
uniprot
proteins
mass_dalton
81641
uniprot
proteins
protein_family
TMC family
uniprot
proteins
pubmed
12426567
uniprot
proteins
pubmed
12906855
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18158319
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23429285
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25220380
uniprot
proteins
pubmed
28646613
uniprot
proteins
pubmed
30068544
uniprot
proteins
pubmed
32917726
uniprot
proteins
sequence_length
726
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12426567, ECO:0000269|PubMed:18158319, ECO:0000269|PubMed:25220380}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:18158319}; Multi-pass membrane protein {ECO:0000255}. Nucleus membrane {ECO:0000269|PubMed:18158319}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes to the ER, Golgi and nucleus membranes in keratinocytes. {ECO:0000269|PubMed:18158319}.
uniprot
proteins
transmembrane_region
TRANSMEM 115..135; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 201..221; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 300..320; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 339..359; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 427..447; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 489..509; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 532..552; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 595..615; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins