PCDH19

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]

Description

Protocadherin 19

Tissue specificity

Tissue enriched (brain)

Subcell location

Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (100291644 - 100410273)

Ensembl ID

ENSG00000165194  (ver. 103.38)

Orthologs

Mouse Pcdh19: ENSMUSG00000051323

UniProt

Q8TAB3

neXtProt

NX_Q8TAB3

Human splice variants
Mouse splice variants

Protein structure