Transmembrane Channel-Like protein 8

Alternative Names

  • EV Gene
  • EVER2
  • EV2
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OMIM Number

605829

NCBI Gene ID

147138

Uniprot ID

Q8IU68

Length

14,118 bases

No. of Exons

17

No. of isoforms

2

Protein Name

Transmembrane channel-like protein 8

Molecular Mass

81641 Da

Amino Acid Count

726

Genomic Location

chr17:78,128,851-78,142,968

Gene Map Locus
17q25

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_152468.5:c.1024G>TLebanonchr17:78134906BenignLikely BenignNG_007881.1:g.9129G>T; NM_152468.5:c.1024G>T; NP_689681.2:p.Gly342Trp112802399456020
NM_152468.5:c.917A>TLebanonchr17:78134494BenignLikely PathogenicEpidermodysplasia Verruciformis, Susceptibility to, 2NG_007881.1:g.8717A>TNP_689681.2:p.Asn306Ile7208422403548
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