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Pcdh19 protocadherin 19 [ Mus musculus (house mouse) ]

Gene ID: 279653, updated on 12-May-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 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
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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
 
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
 

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_001105245.1NP_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