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    Pcdh19 protocadherin 19 [ Mus musculus (house mouse) ]

    Gene ID: 279653, updated on 9-Dec-2024

    Summary

    Official Symbol
    Pcdh19provided by MGI
    Official Full Name
    protocadherin 19provided by MGI
    Primary source
    MGI:MGI:2685563
    See related
    Ensembl:ENSMUSG00000051323 AllianceGenome:MGI:2685563
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm717; mKIAA1313; B530002L05Rik
    Summary
    Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; embryo mesenchyme; future brain; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 9. Orthologous to human PCDH19 (protocadherin 19). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in CNS E18 (RPKM 6.9), whole brain E14.5 (RPKM 4.8) and 15 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Pcdh19 in Genome Data Viewer
    Location:
    X E3; X 55.21 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (132483609..132589802, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (133582860..133689044, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 pseudogene Neighboring gene STARR-seq mESC enhancer starr_47950 Neighboring gene STARR-seq mESC enhancer starr_47951 Neighboring gene heat shock protein 90 alpha (cytosolic), class B member 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_47952 Neighboring gene predicted gene, 26851 Neighboring gene STARR-seq mESC enhancer starr_47953 Neighboring gene tenomodulin Neighboring gene tetraspanin 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001105245.1NP_001098715.1  protocadherin-19 isoform a precursor

      See identical proteins and their annotated locations for NP_001098715.1

      Status: VALIDATED

      Source sequence(s)
      AK046726, AK122492, AL713863, AW493375, CJ120621
      Consensus CDS
      CCDS41117.1
      UniProtKB/Swiss-Prot
      A2AGW3, Q80TF3, Q8BL13
      UniProtKB/TrEMBL
      Q147Z9
      Related
      ENSMUSP00000116886.2, ENSMUST00000149154.8
      Conserved Domains (2) summary
      cd11304
      Location:242342
      Cadherin_repeat; Cadherin tandem repeat domain
      cl09101
      Location:25106
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
    2. NM_001105246.1NP_001098716.1  protocadherin-19 isoform b precursor

      Status: VALIDATED

      Source sequence(s)
      AK046726, AL713863, AW493375, BC118529, CJ120621
      Consensus CDS
      CCDS53181.1
      UniProtKB/TrEMBL
      E9Q5E1, Q147Z9
      Related
      ENSMUSP00000128313.2, ENSMUST00000167944.8
      Conserved Domains (2) summary
      cd11304
      Location:242342
      Cadherin_repeat; Cadherin tandem repeat domain
      cl09101
      Location:25106
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      132483609..132589802 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528558.5XP_006528621.1  protocadherin-19 isoform X4

      UniProtKB/TrEMBL
      Q147Z9
      Conserved Domains (2) summary
      cd11304
      Location:242342
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam08266
      Location:27106
      Cadherin_2; Cadherin-like
    2. XM_006528557.5XP_006528620.1  protocadherin-19 isoform X2

      See identical proteins and their annotated locations for XP_006528620.1

      UniProtKB/TrEMBL
      Q147Z9
      Conserved Domains (2) summary
      cd11304
      Location:242342
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam08266
      Location:27106
      Cadherin_2; Cadherin-like
    3. XM_006528559.5XP_006528622.1  protocadherin-19 isoform X3

      UniProtKB/TrEMBL
      Q147Z9
      Conserved Domains (2) summary
      cd11304
      Location:242342
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam08266
      Location:27106
      Cadherin_2; Cadherin-like
    4. XM_006528556.5XP_006528619.1  protocadherin-19 isoform X1

      UniProtKB/TrEMBL
      Q147Z9
      Conserved Domains (2) summary
      cd11304
      Location:242342
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam08266
      Location:27106
      Cadherin_2; Cadherin-like