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Gene: PCDH19 (protocadherin 19) Homo sapiens
Symbol: PCDH19
Name: protocadherin 19
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. [provided by RefSeq, Jul 2017]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp686P1843; EFMR; EIEE9; epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome); KIAA1313; protocadherin-19
Mus musculus (house mouse) : Pcdh19 (protocadherin 19)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pcdh19 (protocadherin 19)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pcdh19 (protocadherin 19)
Pan paniscus (bonobo/pygmy chimpanzee) : PCDH19 (protocadherin 19)
Canis lupus familiaris (dog) : PCDH19 (protocadherin 19)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pcdh19 (protocadherin 19)
Sus scrofa (pig) : PCDH19 (protocadherin 19)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X100,291,644 - 100,410,273 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X99,546,642 - 99,665,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X99,433,298 - 99,551,927 (-)NCBINCBI36hg18NCBI36
Build 34X99,352,786 - 99,468,297NCBI
CeleraX100,067,096 - 100,185,714 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX89,347,660 - 89,465,802 (-)NCBIHuRef
CHM1_1X99,439,320 - 99,557,952 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on PCDH19
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1354208
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.