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Gene: PCDH19 (protocadherin 19) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PCDH19
Alliance Gene
NCBI 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



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