Protocadherin 19

Alternative Names

PCDH19
KIAA1313

Length

118,630 bases

No. of Exons

No. of isoforms

Protein Name

Protocadherin-19

Molecular Mass

126253 Da

Amino Acid Count

1148

Genomic Location

chrX:100,291,644-100,410,273

Gene Map Locus

Xq22.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001184880.2:c.2360G>T	Lebanon	NC_000023.11:g.100402780C>A	Uncertain Significance	Uncertain Significance	Autism	NG_021319.1:g.12494G>T; NM_001184880.2:c.2360G>T; NP_001171809.1:p.Arg787Leu	371839798	1054784
NM_001184880.2:c.3070G>A	Lebanon	NC_000023.11:g.100296654C>T		Uncertain Significance	Autism	NG_021319.1:g.118620G>A; NM_001184880.2:c.3070G>A; NP_001171809.1:p.Asp1024Asn	1278838206
NM_001184880.2:c.577_578del	Saudi Arabia	NC_000023.11:g.100408020_100408021del		Likely Pathogenic	Developmental and Epileptic Encephalopathy 9	NG_021319.1:g.7253_7254del; NM_001184880.2:c.577_578del; NP_001171809.1:p.Glu193LysfsTer32

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDH19

Contributors

Pratibha Nair: 13.03.2023

Edit History

Pratibha Nair: 13.03.2023

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