Tbio JPH3 Junctophilin-3

Protein Summary

Description

Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory. Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]

Uniprot Accession IDs

• Q8WXH2
• D3DUN2
• Q8N471
• Q9HDC3
• Q9HDC4
• JP-3

Gene Name

• JPH3

Ensembl ID

• ENST00000284262
• ENSP00000284262
• ENSG00000154118

Symbol

• JP3
• TNRC22
• JP3
• HDL2
• JP-3
• TNRC22
• CAGL237

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.73
kinase perturbation	0.71
cellular component	0.67
tissue sample	0.67
microRNA	0.65

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

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: 71.68   (req: < 5)

Gene RIFs: 17   (req: <= 3)

Antibodies: 172   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 71.68   (req: >= 5)

Gene RIFs: 17   (req: > 3)

Antibodies: 172   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0