TMC8

Also known as EV2, EVER2, EVIN2, transmembrane channel like 8

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

Gene data

TMC8

Name: transmembrane channel like 8
Type: protein-coding
Position: 78,130,770–78,142,968 (+)
Aliases: EV2, EVER2, EVIN2
Ensembl: ENSG00000167895
RefSeq RNA: NM_152468.5
RefSeq protein: NP_689681.2

Epidermodysplasia verruciformis (EV) is 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. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008].

via MyGene.info

Gene · Ensembl

transmembrane channel like 8

Symbol: TMC8
Biotype: Protein coding
Organism: Homo sapiens
Location: 17:78,130,770-78,142,968
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 45126
exact match: identifiers.org/ncbigene/147138
genomic end: 76139049
genomic start: 76126851
cytogenetic location: 17q25.3

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Article

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Contents

Function
Clinical significance
References
Further reading

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

==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.