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PCDH19 Gene

protein-coding   GIFtS: 53
GCID: GC0XM099546

Protocadherin 19

(Previous names: epilepsy, female restricted, with mental retardation (Juberg-Hellman...)
(Previous symbol: EFMR)
  See PCDH19-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protocadherin 191 2
EFMR1 2 5
EIEE92 5
KIAA13133 5
Epilepsy, Female Restricted, With Mental Retardation (Juberg-Hellman
Syndrome)1
protocadherin-192

External Ids:    HGNC: 142701   Entrez Gene: 575262   Ensembl: ENSG000001651947   OMIM: 3004605   UniProtKB: Q8TAB33   

Export aliases for PCDH19 gene to outside databases

Previous GC identifers: GC0XM094828 GC0XM096507 GC0XM097582 GC0XM098318 GC0XM099352 GC0XM099433 GC0XM089347


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pcdh19-related female-limited epilepsy, and cerebral angioma. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHAC1.

UniProtKB/Swiss-Prot: PCD19_HUMAN, Q8TAB3
Function: Potential calcium-dependent cell-adhesion protein




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011651.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the PCDH19 gene promoter:
         E2F-4   E2F-3a   E2F-5   CUTL1   E2F-2   AREB6   IRF-2   E2F   E2F-1   HFH-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for PCDH19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PCDH19


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22.1   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq22.1

PCDH19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCDH19 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM099546:  view genomic region     (about GC identifiers)

Start:
99,546,642 bp from pter      End:
99,665,271 bp from pter
Size:
118,630 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PCD19_HUMAN, Q8TAB3 (See protein sequence)
Recommended Name: Protocadherin-19 precursor  
Size: 1148 amino acids; 126253 Da
Developmental stage: Expressed in developing cortical plate, amygdala and subcortical regions and in the
ganglionic eminence
Sequence caution: Sequence=CAH18133.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAI41393.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI41394.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B0LDS4 Q5JTG1 Q5JTG2 Q68DT7 Q9P2N3
Alternative splicing: 2 isoforms:  Q8TAB3-1   Q8TAB3-2   (Gene prediction based on EST data. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PCDH19: NX_Q8TAB3

Explore proteomics data for PCDH19 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn261, Asn420, Asn485, Asn546, Asn570, Asn676
  • Modification sites at PhosphoSitePlus

  • See PCDH19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001098713.1  NP_001171809.1  NP_065817.2  

    ENSEMBL proteins: 
     ENSP00000400327   ENSP00000362125   ENSP00000255531  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PCDHN: Cadherins / Protocadherins : Non-clustered

    4 InterPro protein domains:
     IPR015919 Cadherin-like
     IPR013164 Cadherin_N
     IPR020894 Cadherin_CS
     IPR002126 Cadherin

    Graphical View of Domain Structure for InterPro Entry Q8TAB3

    ProtoNet protein and cluster: Q8TAB3

    1 Blocks protein domain: IPB002126 Cadherin

    UniProtKB/Swiss-Prot: PCD19_HUMAN, Q8TAB3
    Similarity: Contains 6 cadherin domains


    Find genes that share domains with PCDH19           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PCD19_HUMAN, Q8TAB3
    Function: Potential calcium-dependent cell-adhesion protein

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with PCDH19           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PCDH19

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    hsa-miR-149 hsa-miR-376a* hsa-miR-200b hsa-miR-877 hsa-miR-130a* hsa-miR-23c hsa-miR-587 hsa-let-7e
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PCD19_HUMAN, Q8TAB3: Cell membrane; Single-pass type I membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    endoplasmic reticulum1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with PCDH19           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PCDH19
    Interactions:

        Search GeneGlobe Interaction Network for PCDH19

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for PCDH19 (ENSP000002555314) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC1ENSP000003626494STRING: ENSP00000362649
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007156homophilic cell adhesion IEA--

    Find genes that share ontologies with PCDH19           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PCDH19 (PCD19)

    1 HMDB Compound for PCDH19    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PCDH19 gene (3 alternative transcripts): 
    NM_001105243.1  NM_001184880.1  NM_020766.2  

    Unigene Cluster for PCDH19:

    Protocadherin 19
    Hs.4993  [show with all ESTs]
    Unigene Representative Sequence: NM_001184880
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000420881 ENST00000373034(uc010nmz.3 uc004efw.4 uc004efx.4)
    ENST00000255531 ENST00000464981
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PCDH19 (see all 141):
    hsa-miR-149 hsa-miR-376a* hsa-miR-200b hsa-miR-877 hsa-miR-130a* hsa-miR-23c hsa-miR-587 hsa-let-7e
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      QuantiFast Probe-based Assays in human, mouse, rat PCDH19

    Additional mRNA sequence: 

    AB037734.1 AK055951.1 AK096591.1 BC136628.1 CR749278.1 EF676096.1 

    4 DOTS entries:

    DT.215766  DT.100744009  DT.438579  DT.92061909 

    Selected AceView cDNA sequences (see all 71):

    Z42799 F11599 BM677895 AB037734 F05543 AA708629 F09255 AK096591 
    BM975868 AA443681 AI350748 AI537878 AA099384 AA447068 Z38942 AI284856 
    BM725474 Z38565 AK055951 CB155219 CD558699 BX103827 BF036780 BM690769 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PCDH19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTCAAATTG
    PCDH19 Expression
    About this image


    PCDH19 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Ovary (Reproductive System)
             Oviduct
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
    PCDH19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCDH19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.4993

    UniProtKB/Swiss-Prot: PCD19_HUMAN, Q8TAB3
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PCDH19 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcdh191 , 5 protocadherin 191, 5 89.32(n)1
    96.68(a)1
      X (55.21 cM)5
    2796531  NM_001105245.11  NP_001098715.11 
     1335828765 
    chicken
    (Gallus gallus)
    Aves PCDH191 protocadherin 19 78.48(n)
    85.26(a)
      422263  NM_001098607.1  NP_001092077.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.163942 Transcribed sequence with weak similarity to protein more 74.97(n)    137732739 
    zebrafish
    (Danio rerio)
    Actinopterygii pcdh191 protocadherin 19 68.35(n)
    72.31(a)
      555688  NM_001127519.2  NP_001120991.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PCDH19 gene
    PCDHAC12  PCDHA22  PCDH72  PCDH202  PCDH12  PCDHA122  PCDH11Y2  PCDHA52  
    PCDH122  PCDHA112  PCDHA12  PCDH182  PCDH92  PCDH82  PCDH172  PCDHGC32  
    PCDHA72  PCDH11X2  PCDHA62  PCDHA82  PCDH102  PCDHA102  PCDHA132  PCDHA92  
    PCDHA32  PCDHA42  
    Selected SIMAP similar genes for PCDH19 using alignment to 3 protein entries:     PCD19_HUMAN (see all proteins) (see all similar genes):
    PCDH17    PCDHGA3    PCDHAC2    PCDHGA11    PCDHGA12    PCDHGA6
    PCDHGB2    PCDHGB6    PCDHGB7    DKFZp586I1919    ME6    PCDHB3
    PCDHGA1    PCDHGA10    PCDHGA4    PCDHGA7    PCDHB13    ME1

    Find genes that share paralogs with PCDH19           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PCDH19
    PGOHUM00000235236


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PCDH19 (see all 1584)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0674754
    Epileptic encephalopathy, early infantile, 9 (EIEE9)4--see VAR_0674752 L R mis40--------
    VAR_0674804
    Epileptic encephalopathy, early infantile, 9 (EIEE9)4--see VAR_0674802 A D mis40--------
    VAR_0648424
    Epileptic encephalopathy, early infantile, 9 (EIEE9)4--see VAR_0648422 T R mis40--------
    VAR_0644814
    Epileptic encephalopathy, early infantile, 9 (EIEE9)4--see VAR_0644812 D N mis40--------
    VAR_0648454
    Epileptic encephalopathy, early infantile, 9 (EIEE9)4--see VAR_0648452 D E mis40--------
    VAR_0648434
    Epileptic encephalopathy, early infantile, 9 (EIEE9)4--see VAR_0648432 F Y mis40--------
    VAR_0674764
    Epileptic encephalopathy, early infantile, 9 (EIEE9)4--see VAR_0674762 V L mis40--------
    VAR_0674774
    Epileptic encephalopathy, early infantile, 9 (EIEE9)4--see VAR_0674772 N S mis40--------
    VAR_0644854
    Epileptic encephalopathy, early infantile, 9 (EIEE9)4--see VAR_0644852 S P mis40--------
    VAR_0644904
    Epileptic encephalopathy, early infantile, 9 (EIEE9)4--see VAR_0644902 L P mis40--------

    HapMap Linkage Disequilibrium report for PCDH19 (99546642 - 99665271 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PCDH19:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7007CNV Loss18451855
    esv2752340CNV Gain17911159

    Human Gene Mutation Database (HGMD): PCDH19
    Locus Specific Mutation Databases (LSDB): PCDH19

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing PCDH19:
    Intellectual Disability
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300460   
    OMIM disorders: 300088  
    UniProtKB/Swiss-Prot: PCD19_HUMAN, Q8TAB3
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 9 diseases for PCDH19:    
    About MalaCards
    pcdh19-related female-limited epilepsy    cerebral angioma    febrile infection-related epilepsy syndrome    epilepsy syndrome
    aicardi syndrome    dravet syndrome    ohtahara syndrome    infantile epileptic encephalopathy
    mental retardation

    4 diseases from the University of Copenhagen DISEASES database for PCDH19:
    Dravet Syndrome     Intellectual disability     Aicardi syndrome     Ohtahara syndrome

    Find genes that share disorders with PCDH19           About GenesLikeMe

    Genetic Association Database (GAD): PCDH19
    Human Genome Epidemiology (HuGE) Navigator: PCDH19 (5 documents)

    Export disorders for PCDH19 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PCDH19 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with PCDH19)
        Utopia: connect your pdf to the dynamic
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    1. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. (PubMed id 19752159)1, 2, 3, 4, 9 Hynes K.... Scheffer I.E. (J. Med. Genet. 2010)
    2. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. (PubMed id 18469813)1, 2, 3, 9 Dibbens L.M....Gecz J. (Nat. Genet. 2008)
    3. Protocadherin 19 mutations in girls with infantile-onset epilepsy. (PubMed id 20713952)1, 2, 4 Marini C....Guerrini R. (Neurology 2010)
    4. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. (PubMed id 19214208)1, 2, 4 Depienne C.... Leguern E. (PLoS Genet. 2009)
    5. Identification and characterization of three members of a novel subclass of protocadherins. (PubMed id 11549318)1, 2, 3 Wolverton T. and Lalande M. (Genomics 2001)
    6. PCDH19 mutation in Japanese females with epilepsy. (PubMed id 22050978)1, 2 Higurashi N.... Hirose S. (Epilepsy Res. 2012)
    7. Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. (PubMed id 21480887)1, 2 Specchio N.... Vigevano F. (Epilepsia 2011)
    8. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. (PubMed id 21053371)1, 2 Depienne C.... LeGuern E. (Hum. Mutat. 2011)
    9. Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. (PubMed id 21519002)1, 2 Dibbens L.M....Scheffer I.E. (Neurology 2011)
    10. Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. (PubMed id 20830798)1, 2 Jamal S.M.... Milunsky J.M. (Am. J. Med. Genet. A 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57526 HGNC: 14270 AceView: PCDH19 Ensembl:ENSG00000165194 euGenes: HUgn57526
    ECgene: PCDH19 H-InvDB: PCDH19

    (According to HUGE)
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    HUGE: KIAA1313

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PCDH19 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PCDH19 gene:
    Search GeneIP for patents involving PCDH19

    GeneCards and IP:
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