Version 5.4
Homo sapiens Protein: PCDH19
Summary
InnateDB Protein IDBP-79098.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PCDH19
Protein Name protocadherin 19
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000362125
InnateDB Gene IDBG-79092 (PCDH19)
Protein Structure
UniProt Annotation
Function Potential calcium-dependent cell-adhesion protein.
Subcellular Localization Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
Disease Associations Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females. {ECO:0000269PubMed:18469813, ECO:0000269PubMed:19214208, ECO:0000269PubMed:19752159, ECO:0000269PubMed:20713952, ECO:0000269PubMed:20830798, ECO:0000269PubMed:21053371, ECO:0000269PubMed:21480887, ECO:0000269PubMed:21519002, ECO:0000269PubMed:22050978, ECO:0000269PubMed:22267240}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast. {ECO:0000269PubMed:11549318, ECO:0000269PubMed:18469813}.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR002126 Cadherin
IPR013164 Cadherin, N-terminal
IPR015919 Cadherin-like
PFAM PF00028
PF08266
PRINTS PR00205
PIRSF
SMART SM00112
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TAB3
PhosphoSite PhosphoSite-Q8TAB3
TrEMBL
UniProt Splice Variant
Entrez Gene 57526
UniGene Hs.707195
RefSeq NP_001171809
HUGO HGNC:14270
OMIM 300460
CCDS CCDS55462
HPRD 11843
IMGT
EMBL AB037734 AL355593 CR749278 EF676096
GenPept ABX58058 BAA92551 CAH18133 CAI41393 CAI41394

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