Alt. symbols: EVER2 | EVIN2

Approved name: transmembrane channel like 8
Alt. names: epidermodysplasia verruciformis 2

Location: 17q25.3: 78130770 - 78142968 (+)
Gene type: protein_coding, 16 transcripts.

Scores: LoFtool: 0.899000 | pLI: 0.00000000 | LOEUF: 1.124

HGNC: 20474

NCBI: 147138, RefSeq: NG_007881.1

Ensembl: ENSG00000167895.16

LRG_119 | Status: public

OMIM: 605829

Expression | ProteinAtlas

TMC8 and TMC6 are 2 contiguous genes that respectively encode the proteins EVER2 and EVER1. Both of these transmembrane proteins localize to the endoplasmic reticulum and are predicted to form transmembrane channels. TMC8 has 8 predicted transmembrane domains and 3 leucine zipper motifs.

Biallelic loss-of-function mutations in the TMC8 gene lead to EVER2 deficiency, which causes epidermodysplasia verruciformis 2 (EV2) [MIM:618231]. EV is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) 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. To date, at least 11 affected individuals of 3 different consanguineous families from Algeria, Colombia and Turkey have been reported in the literature with homozygous null TMC8 mutations, including p.Glu362, c.754delT (p.F252fs), and EX9+1G>C (Ramoz, N. et al., 2002; Imahorn, E. et al. 2017). [Load More]