TMC8 (transmembrane channel like 8)

2003-02-01  

Identity

HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
EV2,EVER2,EVIN2
FUSION GENES

Other Information

Locus ID:

NCBI: 147138
MIM: 605829
HGNC: 20474
Ensembl: ENSG00000167895

Variants:

dbSNP: 147138
ClinVar: 147138
TCGA: ENSG00000167895
COSMIC: TMC8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167895ENST00000318430Q8IU68
ENSG00000167895ENST00000318430A0A024R8N8
ENSG00000167895ENST00000589691Q8IU68
ENSG00000167895ENST00000590799K7EJ72

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
361707582022Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene.0
361707582022Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene.0
344590212021Case of epidermodysplasia verruciformis with a novel mutation of TMC8.1
344590212021Case of epidermodysplasia verruciformis with a novel mutation of TMC8.1
329177262020Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.4
329177262020Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.4
300685442018The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.60
300685442018The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.60
286466132017Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.11
286466132017Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.11
270979112016Variants of EVER1 and EVER2 (TMC6 and TMC8) and human papillomavirus status in patients with mucosal squamous cell carcinoma of the head and neck.9
278990772016Genetic polymorphisms of FAS and EVER genes in a Greek population and their susceptibility to cervical cancer: a case control study.3
270979112016Variants of EVER1 and EVER2 (TMC6 and TMC8) and human papillomavirus status in patients with mucosal squamous cell carcinoma of the head and neck.9
278990772016Genetic polymorphisms of FAS and EVER genes in a Greek population and their susceptibility to cervical cancer: a case control study.3
235349072015Epidermodysplasia verruciformis in lipoid proteinosis: case report and discussion of pathophysiology.1

Citation

Dessen P

TMC8 (transmembrane channel like 8)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40508/tmc8