TMC8
Identifiers
Aliases	TMC8, EV2, EVER2, EVIN2, transmembrane channel like 8
External IDs	OMIM: 605829 MGI: 2669037 HomoloGene: 45126 GeneCards: TMC8
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 78,130,770 bp[1] End 78,142,968 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 117,672,902 bp[2] End 117,683,936 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spleen appendix lymph node blood thymus bone marrow cells monocyte superficial temporal artery spongy bone thymus Top expressed in thymus yolk sac blood morula stomach spleen ascending aorta jejunum aortic valve esophagus More reference expression data BioGPS n/a
Gene ontology Molecular function signaling receptor binding protein binding ion channel activity mechanosensitive ion channel activity Cellular component cytoplasm integral component of membrane Golgi apparatus nuclear membrane extracellular exosome endoplasmic reticulum membrane endoplasmic reticulum membrane extracellular space integral component of plasma membrane Biological process negative regulation of protein oligomerization regulation of extrinsic apoptotic signaling pathway via death domain receptors zinc ion homeostasis ion transport negative regulation of protein binding regulation of cell growth transport ion transmembrane transport transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 147138 217356 Ensembl ENSG00000167895 ENSMUSG00000050106 UniProt Q8IU68 Q7TN58 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 Mb Chr 11: 117.67 – 117.68 Mb PubMed search [3] [4]
Wikidata
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Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene.^[5][6]

Function

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

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]