Protein Summary
May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions. 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]
- ENST00000355237
- ENSP00000347379
- ENSG00000197822
- ENST00000396442
- ENSP00000379719
- ENST00000538151
- ENSP00000445940
- BLCPMG
- PTORCH1
- PPP1R115
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
disease | 0.98 | ||
kinase | 0.96 | ||
PubMedID | 0.92 | ||
chemical | 0.85 | ||
biological term | 0.81 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 2485.72 (req: < 5)
Gene RIFs: 150 (req: <= 3)
Antibodies: 439 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 2485.72 (req: >= 5)
Gene RIFs: 150 (req: > 3)
Antibodies: 439 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 7
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0