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    PCDH19 protocadherin 19 [ Homo sapiens (human) ]

    Gene ID: 57526, updated on 17-Jan-2016
    Official Symbol
    PCDH19provided by HGNC
    Official Full Name
    protocadherin 19provided by HGNC
    Primary source
    HGNC:HGNC:14270
    See related
    Ensembl:ENSG00000165194; HPRD:11843; MIM:300460; Vega:OTTHUMG00000022000
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EFMR; EIEE9
    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]
    Orthologs
    See PCDH19 in Epigenomics, MapViewer
    Location:
    Xq22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (100291644..100410273, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (99546642..99665271, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CTD small phosphatase like 2 pseudogene Neighboring gene ribosomal protein SA pseudogene 8 Neighboring gene uncharacterized LOC105373298 Neighboring gene tenomodulin

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Early infantile epileptic encephalopathy 9
    MedGen: C1848137 OMIM: 300088 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-06-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-06-06)

    ClinGen Genome Curation PagePubMed

    Markers

    Homology

    Clone Names

    • KIAA1313, DKFZp686P1843

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021319.1 RefSeqGene

      Range
      5001..123630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105243.1NP_001098713.1  protocadherin-19 isoform a precursor

      See identical proteins and their annotated locations for NP_001098713.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      AB037734, AK096591, AL355593, BM975868, CR749278, DA500179
      Consensus CDS
      CCDS43976.1
      UniProtKB/TrEMBL
      B3KU71
      UniProtKB/Swiss-Prot
      Q8TAB3
      Related
      ENSP00000255531, OTTHUMP00000023649, ENST00000255531, OTTHUMT00000057478
      Conserved Domains (1) summary
      cd11304
      Location:242342
      Cadherin_repeat; Cadherin tandem repeat domain
    2. NM_001184880.1NP_001171809.1  protocadherin-19 isoform c precursor

      See identical proteins and their annotated locations for NP_001171809.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AB037734, BM975868, EF676096
      Consensus CDS
      CCDS55462.1
      UniProtKB/Swiss-Prot
      Q8TAB3
      Related
      ENSP00000362125, OTTHUMP00000023650, ENST00000373034, OTTHUMT00000057479
      Conserved Domains (1) summary
      cd11304
      Location:242342
      Cadherin_repeat; Cadherin tandem repeat domain
    3. NM_020766.2NP_065817.2  protocadherin-19 isoform b precursor

      See identical proteins and their annotated locations for NP_065817.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      AB037734, AK096591, AL355593, BM975868, CR749278, DA500179
      Consensus CDS
      CCDS48141.1
      UniProtKB/TrEMBL
      B3KU71
      UniProtKB/Swiss-Prot
      Q8TAB3
      Related
      ENSP00000400327, OTTHUMP00000226658, ENST00000420881, OTTHUMT00000378687
      Conserved Domains (1) summary
      cd11304
      Location:242342
      Cadherin_repeat; Cadherin tandem repeat domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      100291644..100410273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530997.1XP_011529299.1  

      See identical proteins and their annotated locations for XP_011529299.1

      Conserved Domains (1) summary
      cd11304
      Location:242342
      Cadherin_repeat; Cadherin tandem repeat domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      99439320..99557952 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)