Tbio PCDH19 Protocadherin-19

Protein Summary

Description

Potential calcium-dependent cell-adhesion protein. The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Uniprot Accession IDs

• Q8TAB3
• B0LDS4
• E9PAM6
• Q5JTG1
• Q5JTG2
• Q68DT7
• Q9P2N3

Gene Name

• PCDH19

Ensembl ID

• ENST00000255531
• ENSP00000255531
• ENSG00000165194
• ENST00000373034
• ENSP00000362125
• ENST00000420881
• ENSP00000400327

Symbol

• KIAA1313
• EFMR
• EIEE9

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
microRNA	0.64
protein domain	0.58
PubMedID	0.56
small molecule perturbation	0.56
virus perturbation	0.55

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: 116.82   (req: < 5)

Gene RIFs: 64   (req: <= 3)

Antibodies: 41   (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: 116.82   (req: >= 5)

Gene RIFs: 64   (req: > 3)

Antibodies: 41   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

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