TMC8

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
TMC8
Identifiers
AliasesTMC8, EV2, EVER2, EVIN2, transmembrane channel like 8
External IDsMGI: 2669037 HomoloGene: 45126 GeneCards: TMC8
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for TMC8
Genomic location for TMC8
Band17q25.3Start78,130,770 bp[1]
End78,142,968 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152468

NM_001195088
NM_001195089
NM_001195090
NM_181856

RefSeq (protein)

NP_689681

NP_001182017
NP_001182018
NP_001182019
NP_862904

Location (UCSC)Chr 17: 78.13 – 78.14 MbChr 11: 117.78 – 117.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene.[5][6]

Function[edit]

The protein encoded by this gene is an integral membrane protein that localize to the endoplasmic reticulum and is predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs.[6]

Clinical significance[edit]

Mutations in the TMC8 gene are associated with epidermodysplasia verruciformis (EV), an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000167895 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050106 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M (December 2002). "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis". Nature Genetics. 32 (4): 579–81. doi:10.1038/ng1044. PMID 12426567. 
  6. ^ a b c "Entrez Gene: TMC8 transmembrane channel-like 8". 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.