Entrez Summary: This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
Occludin ELL
MARVEL
GO Terms
response to interleukin-18
apicolateral plasma membrane
regulation of bicellular tight junction assembly
bicellular tight junction assembly
tight junction assembly
tight junction organization
apical junction assembly
lateral plasma membrane
endocytic vesicle
regulation of cell junction assembly
cell-cell junction assembly
bicellular tight junction
cell-cell junction organization
cell junction assembly
cell-cell junction
cell junction organization
cellular response to tumor necrosis factor
protein domain specific binding
cytoplasmic vesicle
response to tumor necrosis factor
apical plasma membrane
cell junction
protein-containing complex
regulation of cellular component biogenesis
cellular response to cytokine stimulus
response to cytokine
protein-containing complex assembly
protein-containing complex subunit organization
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)