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Aliases for PCDH19 Gene

Aliases for PCDH19 Gene

  • Protocadherin 19 2 3 5
  • Epilepsy, Female Restricted, With Mental Retardation (Juberg-Hellman Syndrome) 2
  • KIAA1313 4
  • EIEE9 3
  • EFMR 3

External Ids for PCDH19 Gene

Previous HGNC Symbols for PCDH19 Gene

  • EFMR

Previous GeneCards Identifiers for PCDH19 Gene

  • GC0XM094828
  • GC0XM096507
  • GC0XM097582
  • GC0XM098318
  • GC0XM099352
  • GC0XM099433
  • GC0XM099546
  • GC0XM089347

Summaries for PCDH19 Gene

Entrez Gene Summary for PCDH19 Gene

  • 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]

GeneCards Summary for PCDH19 Gene

PCDH19 (Protocadherin 19) is a Protein Coding gene. Diseases associated with PCDH19 include epileptic encephalopathy, early infantile, 9 and female restricted epilepsy with intellectual disability. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGA5.

UniProtKB/Swiss-Prot for PCDH19 Gene

  • Potential calcium-dependent cell-adhesion protein.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDH19 Gene

Genomics for PCDH19 Gene

Regulatory Elements for PCDH19 Gene

Promoters for PCDH19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCDH19 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDH19 Gene

Chromosome:
X
Start:
100,291,644 bp from pter
End:
100,410,273 bp from pter
Size:
118,630 bases
Orientation:
Minus strand

Genomic View for PCDH19 Gene

Genes around PCDH19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDH19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDH19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDH19 Gene

Proteins for PCDH19 Gene

  • Protein details for PCDH19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAB3-PCD19_HUMAN
    Recommended name:
    Protocadherin-19
    Protein Accession:
    Q8TAB3
    Secondary Accessions:
    • B0LDS4
    • E9PAM6
    • Q5JTG1
    • Q5JTG2
    • Q68DT7
    • Q9P2N3

    Protein attributes for PCDH19 Gene

    Size:
    1148 amino acids
    Molecular mass:
    126253 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAH18133.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI41393.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI41394.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PCDH19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDH19 Gene

Proteomics data for PCDH19 Gene at MOPED

Post-translational modifications for PCDH19 Gene

  • Glycosylation at Asn 261, Asn 420, Asn 485, Asn 546, Asn 570, and Asn 676
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDH19 Gene

No data available for DME Specific Peptides for PCDH19 Gene

Domains & Families for PCDH19 Gene

Gene Families for PCDH19 Gene

Protein Domains for PCDH19 Gene

Suggested Antigen Peptide Sequences for PCDH19 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TAB3

UniProtKB/Swiss-Prot:

PCD19_HUMAN :
  • Contains 6 cadherin domains.
Domain:
  • Contains 6 cadherin domains.
genes like me logo Genes that share domains with PCDH19: view

Function for PCDH19 Gene

Molecular function for PCDH19 Gene

UniProtKB/Swiss-Prot Function:
Potential calcium-dependent cell-adhesion protein.

Phenotypes for PCDH19 Gene

genes like me logo Genes that share phenotypes with PCDH19: view

Human Phenotype Ontology for PCDH19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PCDH19

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDH19 Gene

Localization for PCDH19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDH19 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCDH19 Gene COMPARTMENTS Subcellular localization image for PCDH19 gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PCDH19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDH19: view

Pathways & Interactions for PCDH19 Gene

SuperPathways for PCDH19 Gene

No Data Available

Interacting Proteins for PCDH19 Gene

Gene Ontology (GO) - Biological Process for PCDH19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with PCDH19: view

No data available for Pathways by source and SIGNOR curated interactions for PCDH19 Gene

Drugs & Compounds for PCDH19 Gene

(1) Drugs for PCDH19 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with PCDH19: view

Transcripts for PCDH19 Gene

Unigene Clusters for PCDH19 Gene

Protocadherin 19:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PCDH19 Gene

No ASD Table

Relevant External Links for PCDH19 Gene

GeneLoc Exon Structure for
PCDH19
ECgene alternative splicing isoforms for
PCDH19

Expression for PCDH19 Gene

mRNA expression in normal human tissues for PCDH19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCDH19 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.8), Brain - Anterior cingulate cortex (BA24) (x5.7), Brain - Hypothalamus (x5.5), Brain - Hippocampus (x5.0), and Brain - Cortex (x4.4).

Protein differential expression in normal tissues from HIPED for PCDH19 Gene

This gene is overexpressed in Fetal Brain (44.5) and Stomach (19.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDH19 Gene



SOURCE GeneReport for Unigene cluster for PCDH19 Gene Hs.4993

mRNA Expression by UniProt/SwissProt for PCDH19 Gene

Q8TAB3-PCD19_HUMAN
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.
genes like me logo Genes that share expression patterns with PCDH19: view

Protein tissue co-expression partners for PCDH19 Gene

Primer Products

In Situ Assay Products

Orthologs for PCDH19 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDH19 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PCDH19 35
  • 91.03 (n)
  • 97.64 (a)
PCDH19 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC492013 35
  • 91.2 (n)
  • 97.63 (a)
PCDH19 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcdh19 35
  • 89.32 (n)
  • 96.68 (a)
Pcdh19 16
Pcdh19 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCDH19 35
  • 96.3 (n)
  • 95.94 (a)
PCDH19 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcdh19 35
  • 88.31 (n)
  • 96.36 (a)
oppossum
(Monodelphis domestica)
Mammalia PCDH19 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCDH19 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCDH19 35
  • 78.48 (n)
  • 85.26 (a)
PCDH19 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcdh19 35
  • 72.25 (n)
  • 83.24 (a)
Str.16394 35
zebrafish
(Danio rerio)
Actinopterygii pcdh19 35
  • 68.35 (n)
  • 72.31 (a)
si:ch211-199f5.1 36
  • 32 (a)
ManyToMany
Species with no ortholog for PCDH19:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCDH19 Gene

ENSEMBL:
Gene Tree for PCDH19 (if available)
TreeFam:
Gene Tree for PCDH19 (if available)

Paralogs for PCDH19 Gene

Pseudogenes.org Pseudogenes for PCDH19 Gene

genes like me logo Genes that share paralogs with PCDH19: view

Variants for PCDH19 Gene

Sequence variations from dbSNP and Humsavar for PCDH19 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_046484 Epileptic encephalopathy, early infantile, 9 (EIEE9)
VAR_046485 Epileptic encephalopathy, early infantile, 9 (EIEE9)
VAR_064481 Epileptic encephalopathy, early infantile, 9 (EIEE9)
VAR_064482 Epileptic encephalopathy, early infantile, 9 (EIEE9)
VAR_064483 Epileptic encephalopathy, early infantile, 9 (EIEE9)

Structural Variations from Database of Genomic Variants (DGV) for PCDH19 Gene

Variant ID Type Subtype PubMed ID
esv2752340 CNV Gain 17911159
nsv7007 CNV Loss 18451855

Variation tolerance for PCDH19 Gene

Residual Variation Intolerance Score: 5.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.80; 47.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDH19 Gene

HapMap Linkage Disequilibrium report
PCDH19
Human Gene Mutation Database (HGMD)
PCDH19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDH19 Gene

Disorders for PCDH19 Gene

MalaCards: The human disease database

(9) MalaCards diseases for PCDH19 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 9
  • eiee9
female restricted epilepsy with intellectual disability
  • efmr
dravet syndrome
  • dravet syndrome, modifier of
febrile infection-related epilepsy syndrome
  • acute encephalitis with refractory repetitive partial seizures
pcdh19-related female-limited epilepsy
  • epileptic encephalopathy, early infantile, 9
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PCD19_HUMAN
  • 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:0000269 PubMed:18469813, ECO:0000269 PubMed:19214208, ECO:0000269 PubMed:19752159, ECO:0000269 PubMed:20713952, ECO:0000269 PubMed:20830798, ECO:0000269 PubMed:21053371, ECO:0000269 PubMed:21480887, ECO:0000269 PubMed:21519002, ECO:0000269 PubMed:22050978, ECO:0000269 PubMed:22267240}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PCDH19

Genetic Association Database (GAD)
PCDH19
Human Genome Epidemiology (HuGE) Navigator
PCDH19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDH19
genes like me logo Genes that share disorders with PCDH19: view

No data available for Genatlas for PCDH19 Gene

Publications for PCDH19 Gene

  1. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. (PMID: 19752159) Hynes K. … Scheffer I.E. (J. Med. Genet. 2010) 2 3 4 23 48 67
  2. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. (PMID: 18469813) Dibbens L.M. … Gecz J. (Nat. Genet. 2008) 2 3 23
  3. Identification and characterization of three members of a novel subclass of protocadherins. (PMID: 11549318) Wolverton T. … Lalande M. (Genomics 2001) 2 3
  4. PCDH19 mutations in female patients from Southern Italy. (PMID: 25218114) Gagliardi M. … Gambardella A. (Seizure 2015) 3
  5. Cognitive development in females with PCDH19 gene-related epilepsy. (PMID: 25499160) Cappelletti S. … Cusmai R. (Epilepsy Behav 2015) 3

Products for PCDH19 Gene

Sources for PCDH19 Gene

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