Version 5.4
Homo sapiens Gene: PCDH19
Summary
InnateDB Gene IDBG-79092.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PCDH19
Gene Name protocadherin 19
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000165194
Encoded Proteins
IDBP-79098
protocadherin 19
IDBP-79100
protocadherin 19
IDBP-377343
protocadherin 19
IDBP-812244
protocadherin 19
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome X:100291644-100410273
Strand Reverse strand
Band q22.1
Transcripts
ENST00000373034 ENSP00000362125
ENST00000255531 ENSP00000255531
ENST00000420881 ENSP00000400327
ENST00000464981 ENSP00000479805
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
Biological Process
GO:0007156 homophilic cell adhesion
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000051323
View Gene Order
ENSBTAG00000014169
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.4993 Hs.594996 Hs.707195
RefSeq NM_001105243 NM_001184880 NM_020766
HUGO
OMIM
CCDS CCDS43976 CCDS48141 CCDS55462
HPRD 11843
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca