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    Jph4 junctophilin 4 [ Mus musculus (house mouse) ]

    Gene ID: 319984, updated on 14-May-2024

    Summary

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    Official Symbol
    Jph4provided by MGI
    Official Full Name
    junctophilin 4provided by MGI
    Primary source
    MGI:MGI:2443113
    See related
    Ensembl:ENSMUSG00000022208 AllianceGenome:MGI:2443113
    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
    JP-4; JPHL1; 9330157P13Rik
    Summary
    Acts upstream of or within several processes, including learning; neuromuscular process controlling balance; and regulation of store-operated calcium entry. Located in dendritic shaft and smooth endoplasmic reticulum. Is expressed in hindlimb mesenchyme; nervous system; and retina. Orthologous to human JPH4 (junctophilin 4). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cortex adult (RPKM 53.4), CNS E18 (RPKM 50.7) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Jph4 in Genome Data Viewer
    Location:
    14 C3; 14 28.07 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (55344283..55354392, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (55106826..55116935, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene zinc finger homeobox 2 Neighboring gene zinc finger homeobox 2, opposite strand Neighboring gene STARR-seq mESC enhancer starr_36762 Neighboring gene STARR-positive B cell enhancer ABC_E11569 Neighboring gene STARR-positive B cell enhancer ABC_E9405 Neighboring gene thiamine triphosphatase Neighboring gene adaptor protein complex AP-1, gamma 2 subunit Neighboring gene predicted gene, 53860 Neighboring gene STARR-positive B cell enhancer mm9_chr14:55780296-55780597 Neighboring gene predicted gene, 46455 Neighboring gene predicted gene, 23596

    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. Junctophilin-4, a component of the endoplasmic reticulum-plasma membrane junctions, regulates Ca2+ dynamics in T cells. Woo JS, et al. Proc Natl Acad Sci U S A, 2016 Mar 8. PMID 26929330, Free PMC Article
    2. Method for systematic targeted isolation of homologous cDNA fragments in a multiplex format. Ohara R, et al. Biotechniques, 2004 May. PMID 15152599
    3. Functional uncoupling between Ca2+ release and afterhyperpolarization in mutant hippocampal neurons lacking junctophilins. Moriguchi S, et al. Proc Natl Acad Sci U S A, 2006 Jul 11. PMID 16809425, Free PMC Article
    4. Abnormal features in mutant cerebellar Purkinje cells lacking junctophilins. Ikeda A, et al. Biochem Biophys Res Commun, 2007 Nov 23. PMID 17904530
    5. Coexpression of junctophilin type 3 and type 4 in brain. Nishi M, et al. Brain Res Mol Brain Res, 2003 Oct 21. PMID 14559359

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Junctophilin Proteins Tether a Cav1-RyR2-KCa3.1 Tripartite Complex to Regulate Neuronal Excitability.
      Title: Junctophilin Proteins Tether a Cav1-RyR2-KCa3.1 Tripartite Complex to Regulate Neuronal Excitability.
    2. Data show that junctophilin-4 (JP4) is expressed in T cells and localized at the endoplasmic reticulum-plasma membrane junctions to regulate Ca(2+) signaling.
      Title: Junctophilin-4, a component of the endoplasmic reticulum-plasma membrane junctions, regulates Ca2+ dynamics in T cells.
    3. Gene expression was slightly altered in the JP-3 and JP-4 Knockout cerebellum.
      Title: Abnormal features in mutant cerebellar Purkinje cells lacking junctophilins.
    4. Jph4 seems to have an essential role in neural excitability fundamental to plasticity and integrated functions.
      Title: Functional uncoupling between Ca2+ release and afterhyperpolarization in mutant hippocampal neurons lacking junctophilins.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (1)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within learning IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within neuromuscular process controlling balance IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of store-operated calcium entry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of synaptic plasticity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of synaptic plasticity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in dendritic shaft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of junctional membrane complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 smooth endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    junctophilin-4
    Names
    junctophilin-like 1 protein

    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_177049.5 → NP_796023.2  junctophilin-4

      See identical proteins and their annotated locations for NP_796023.2

      Status: VALIDATED

      Source sequence(s)
      AB099712, AC157212
      Consensus CDS
      CCDS27109.1
      UniProtKB/Swiss-Prot
      Q69FB2, Q80WT0, Q8BMI1
      Related
      ENSMUSP00000022819.6, ENSMUST00000022819.13
      Conserved Domains (2) summary
      smart00698
      Location:128 → 143
      MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
      pfam02493
      Location:305 → 327
      MORN; MORN repeat

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      55344283..55354392 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001003829.2: Suppressed sequence

      Description
      NM_001003829.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80WT0.1 GenPept UniProtKB/Swiss-Prot:Q80WT0

    Gene LinkOut

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

    Chemical Information
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