Entrez Summary: 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 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008].
UniProt Summary: Probable ion channel. {ECO:0000250}.
Pfam DomainsGO Terms
Pfam Domains
TMC
GO Terms
mechanosensitive ion channel activity
ion channel activity
tertiary granule membrane
specific granule membrane
nuclear membrane
neutrophil degranulation
neutrophil activation involved in immune response
neutrophil mediated immunity
neutrophil activation
granulocyte activation
leukocyte degranulation
myeloid leukocyte mediated immunity
myeloid cell activation involved in immune response
myeloid leukocyte activation
leukocyte activation involved in immune response
cell activation involved in immune response
regulated exocytosis
leukocyte mediated immunity
exocytosis
leukocyte activation
endoplasmic reticulum membrane
ion transmembrane transport
Golgi apparatus
secretion by cell
endoplasmic reticulum
export from cell
cell activation
immune effector process
secretion
transmembrane transport
ion transport
integral component of plasma membrane
immune response
vesicle-mediated transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)