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    Pcdh19 protocadherin 19 [ Mus musculus (house mouse) ]

    Gene ID: 279653, updated on 21-Apr-2024

    Summary

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    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 located in plasma membrane. Predicted to be integral component of membrane. Predicted to be integral component of plasma membrane. Is expressed in several structures, including embryo mesenchyme; future brain; genitourinary system; gut; 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, Apr 2022]
    Expression
    Broad expression in CNS E18 (RPKM 6.9), whole brain E14.5 (RPKM 4.8) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Modifying PCDH19 levels affects cortical interneuron migration. Pancho A, et al. Front Neurosci, 2022. PMID 36389226, Free PMC Article
    2. Perturbation of Cortical Excitability in a Conditional Model of PCDH19 Disorder. Lamers D, et al. Cells, 2022 Jun 16. PMID 35741068, Free PMC Article
    3. Cellular and Behavioral Characterization of Pcdh19 Mutant Mice: subtle Molecular Changes, Increased Exploratory Behavior and an Impact of Social Environment. Galindo-Riera N, et al. eNeuro, 2021 Jul-Aug. PMID 34272258, Free PMC Article
    4. Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE). Mincheva-Tasheva S, et al. Mol Neurobiol, 2021 May. PMID 33411240
    5. Characterization of seizure susceptibility in Pcdh19 mice. Rakotomamonjy J, et al. Epilepsia, 2020 Oct. PMID 32944953, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE).
      Title: Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE).
    2. Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder.
      Title: Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder.
    3. Characterization of seizure susceptibility in Pcdh19 mice.
      Title: Characterization of seizure susceptibility in Pcdh19 mice.
    4. hemizygous Pcdh19 Knockout male mice show autism-like phenotypes.
      Title: Autism-like behaviors in male mice with a Pcdh19 deletion.
    5. Results suggest that T-box protein (TBR2/EOMES) coordinates neurogenesis expansion and precise microcircuit assembly via protocadherin 19 (PCDH19) in the cortex.
      Title: TBR2 coordinates neurogenesis expansion and precise microcircuit organization via Protocadherin 19 in the mammalian cortex.
    6. Our results highlight the role of PCDH19 in determining cell adhesion affinities during cortical development
      Title: Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.
    7. Study investigated the expression pattern of Pcdh19 and Ncdh in limbic structures at four postnatal stages of C57BL/6J mice by using double-label in situ hybridization. Results confirm a strong expression of both, Ncdh and Pcdh19, in structures of the limbic system with overlapping expression patterns particularly within regions of the amygdala, the hippocampus and the ventral hypothalamus.
      Title: Expression profile of N-cadherin and protocadherin-19 in postnatal mouse limbic structures.
    8. These results suggest that Pcdh19 is required for behavioral control in mice, but its genetic loss differentially affects the male and female behavior, as seen in human, and they also support the hypothesis that the mosaic expression of Pcdh19 in brains perturbs neuronal interactions.
      Title: Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice.
    9. Study shows that Pcdh19 expression is widely expressed in the developing CNS through to adulthood. Although brain morphology in Pcdh19Y/beta-Geo, Pcdh19beta-Geo/beta-Geo and Pcdh19+/beta-Geo mutants appears grossly normal, in vitro analysis indicates that Pcdh19 null neurons have a slight but significant increase in motility.
      Title: Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice.
    10. Pcdh19 gene is developmentally regulated during mouse organogenesis and shows a unique expression profile among protocadherins.
      Title: Expression of the delta-protocadherin gene Pcdh19 in the developing mouse embryo.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal 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
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protocadherin-19

    NCBI Reference Sequences (RefSeq)

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    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_001105245.1 → NP_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:242 → 342
      Cadherin_repeat; Cadherin tandem repeat domain
      cl09101
      Location:25 → 106
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

    2. NM_001105246.1 → NP_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:242 → 342
      Cadherin_repeat; Cadherin tandem repeat domain
      cl09101
      Location:25 → 106
      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_006528558.5 → XP_006528621.1  protocadherin-19 isoform X4

      UniProtKB/TrEMBL
      Q147Z9
      Conserved Domains (2) summary
      cd11304
      Location:242 → 342
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam08266
      Location:27 → 106
      Cadherin_2; Cadherin-like

    2. XM_006528557.5 → XP_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:242 → 342
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam08266
      Location:27 → 106
      Cadherin_2; Cadherin-like

    3. XM_006528559.5 → XP_006528622.1  protocadherin-19 isoform X3

      UniProtKB/TrEMBL
      Q147Z9
      Conserved Domains (2) summary
      cd11304
      Location:242 → 342
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam08266
      Location:27 → 106
      Cadherin_2; Cadherin-like

    4. XM_006528556.5 → XP_006528619.1  protocadherin-19 isoform X1

      UniProtKB/TrEMBL
      Q147Z9
      Conserved Domains (2) summary
      cd11304
      Location:242 → 342
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam08266
      Location:27 → 106
      Cadherin_2; Cadherin-like
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80TF3.3 GenPept UniProtKB/Swiss-Prot:Q80TF3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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