Entity Details

Primary name PCDH19
Entity type gene
Source Source Link

Details

PrimaryID57526
RefseqGeneNG_021319
SymbolPCDH19
Nameprotocadherin 19
ChromosomeX
LocationXq22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPCD19_HUMAN

GO terms

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GOName
GO:0005509 calcium ion binding
GO:0005887 integral component of plasma membrane
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007420 brain development

Diseases

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Disease IDSourceNameDescription
300088 OMIMDevelopmental and epileptic encephalopathy 9 (DEE9)A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions

InteractorPartnerSourcesPublicationsLink
PCDH19BRK1IntAct24439376 details
PCDH19IPPKBioGRID, IntAct28514442 details
PCDH19PCDHGB1BioGRID, IntAct28514442 details
PCDH19SPTAN1BioGRID, IntAct30021884 details
PCDH19RETBioGRID32062451 details
PCDH19TRIM66BioGRID31753913 details
PCDH19GJA1BioGRID34079125 details