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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

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