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Gene: PCDH19 (protocadherin 19) Homo sapiens
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Symbol: PCDH19
Name: protocadherin 19
Description: Predicted to have calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to localize to the integral component of plasma membrane. Implicated in early infantile epileptic encephalopathy 9.
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)
Chlorocebus sabaeus (green monkey) : PCDH19 (protocadherin 19)
Heterocephalus glaber (naked mole-rat) : Pcdh19 (protocadherin 19)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 EnsemblX100,291,644 - 100,410,273 (-)Ensembl
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

Expression

RNA-SEQ Expression

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

RGD Object Information
RGD ID: 1354208
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-01-14
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.