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    Jph2 junctophilin 2 [ Mus musculus (house mouse) ]

    Gene ID: 59091, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Jph2provided by MGI
    Official Full Name
    junctophilin 2provided by MGI
    Primary source
    MGI:MGI:1891496
    See related
    Ensembl:ENSMUSG00000017817 AllianceGenome:MGI:1891496
    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
    Jp2; JP-2; 1110002E14Rik
    Summary
    Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and core promoter sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and regulation of cardiac muscle tissue development. Acts upstream of or within positive regulation of cytosolic calcium ion concentration. Located in several cellular components, including Z disc; nucleus; and sarcoplasmic reticulum. Part of junctional membrane complex. Is expressed in several structures, including genitourinary system; heart; liver; skeletal muscle; and spleen. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 2E and hypertrophic cardiomyopathy 17. Orthologous to human JPH2 (junctophilin 2). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in heart adult (RPKM 70.1), bladder adult (RPKM 48.2) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Jph2 in Genome Data Viewer
    Location:
    2 H3; 2 84.22 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (163178162..163239969, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (163336242..163398049, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene 11454 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:162990282-162990435 Neighboring gene VISTA enhancer mm1561 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:163054873-163055132 Neighboring gene TOX high mobility group box family member 2 Neighboring gene VISTA enhancer mm1646 Neighboring gene predicted gene, 35750 Neighboring gene STARR-seq mESC enhancer starr_06306 Neighboring gene STARR-seq mESC enhancer starr_06307 Neighboring gene STARR-positive B cell enhancer ABC_E2651 Neighboring gene RIKEN cDNA 2900093K20 gene Neighboring gene STARR-positive B cell enhancer ABC_E1608 Neighboring gene oxidative stress responsive serine rich 1 Neighboring gene ganglioside-induced differentiation-associated protein 1-like 1

    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 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. Altered myocardial lipid regulation in junctophilin-2-associated familial cardiomyopathies. Lahiri SK, et al. Life Sci Alliance, 2024 May. PMID 38438248, Free PMC Article
    2. Reduction in Junctophilin 2 Expression in Cardiac Nodal Tissue Results in Intracellular Calcium-Driven Increase in Nodal Cell Automaticity. Landstrom AP, et al. Circ Arrhythm Electrophysiol, 2023 Feb. PMID 36706317, Free PMC Article
    3. NMR resonance assignments of the DNA binding domain of mouse Junctophilin-2. Yu L, et al. Biomol NMR Assign, 2022 Oct. PMID 35665900, Free PMC Article
    4. Glutamate at position 227 of junctophilin-2 is involved in binding to TRPC3. Woo JS, et al. Mol Cell Biochem, 2009 Aug. PMID 19277847, Free PMC Article
    5. Junctophilin 2 knockdown interfere with mitochondrium status in ESC-CMs and cardiogenesis of ES cells. Liang X, et al. J Cell Biochem, 2012 Sep. PMID 22511307

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Junctophilin-2 is a double-stranded RNA-binding protein that regulates cardiomyocyte-autonomous innate immune response.
      Title: Junctophilin-2 is a double-stranded RNA-binding protein that regulates cardiomyocyte-autonomous innate immune response.
    2. Targeting calpain-2-mediated junctophilin-2 cleavage delays heart failure progression following myocardial infarction.
      Title: Targeting calpain-2-mediated junctophilin-2 cleavage delays heart failure progression following myocardial infarction.
    3. Altered myocardial lipid regulation in junctophilin-2-associated familial cardiomyopathies.
      Title: Altered myocardial lipid regulation in junctophilin-2-associated familial cardiomyopathies.
    4. Reduction in Junctophilin 2 Expression in Cardiac Nodal Tissue Results in Intracellular Calcium-Driven Increase in Nodal Cell Automaticity.
      Title: Reduction in Junctophilin 2 Expression in Cardiac Nodal Tissue Results in Intracellular Calcium-Driven Increase in Nodal Cell Automaticity.
    5. NMR resonance assignments of the DNA binding domain of mouse Junctophilin-2.
      Title: NMR resonance assignments of the DNA binding domain of mouse Junctophilin-2.
    6. SERCA2a ameliorates cardiomyocyte T-tubule remodeling via the calpain/JPH2 pathway to improve cardiac function in myocardial ischemia/reperfusion mice.
      Title: SERCA2a ameliorates cardiomyocyte T-tubule remodeling via the calpain/JPH2 pathway to improve cardiac function in myocardial ischemia/reperfusion mice.
    7. Nuclear localization of a novel calpain-2 mediated junctophilin-2 C-terminal cleavage peptide promotes cardiomyocyte remodeling.
      Title: Nuclear localization of a novel calpain-2 mediated junctophilin-2 C-terminal cleavage peptide promotes cardiomyocyte remodeling.
    8. Junctophilin-2 expression rescues atrial dysfunction through polyadic junctional membrane complex biogenesis.
      Title: Junctophilin-2 expression rescues atrial dysfunction through polyadic junctional membrane complex biogenesis.
    9. junctophilin-2 maintains functional coupling between type 2 ryanodine receptors and Ca2+-activated K+ (BK) channels and is critically important for cerebral arterial function
      Title: Nanoscale coupling of junctophilin-2 and ryanodine receptors regulates vascular smooth muscle cell contractility.
    10. Junctophilin 2, as junctional membrane complex (JMC) protein, is an important regulator of the cardiac SK channels
      Title: Functional interaction of Junctophilin 2 with small- conductance Ca(2+) -activated potassium channel subtype 2(SK2) in mouse cardiac myocytes.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Variation

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    Alleles

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

    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 DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables core promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidic acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidic acid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-3-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-3-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-4-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-4-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-5-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-5-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylserine binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylserine binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of ryanodine-sensitive calcium-release channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of ryanodine-sensitive calcium-release channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cardiac muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    part_of junctional membrane complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in sarcoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    junctophilin-2
    Names
    junctophilin type 2

    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_001205076.1 → NP_001192005.1  junctophilin-2

      See identical proteins and their annotated locations for NP_001192005.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL589876
      Consensus CDS
      CCDS17008.1
      UniProtKB/Swiss-Prot
      Q3U077, Q9ET78, Q9ET79
      Related
      ENSMUSP00000105052.3, ENSMUST00000109425.3
      Conserved Domains (2) summary
      PLN03185
      Location:4 → 143
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      PHA03307
      Location:442 → 643
      PHA03307; transcriptional regulator ICP4; Provisional

    2. NM_021566.2 → NP_067541.1  junctophilin-2

      See identical proteins and their annotated locations for NP_067541.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB024447, AL589876
      Consensus CDS
      CCDS17008.1
      UniProtKB/Swiss-Prot
      Q3U077, Q9ET78, Q9ET79
      Related
      ENSMUSP00000017961.5, ENSMUST00000017961.11
      Conserved Domains (2) summary
      PLN03185
      Location:4 → 143
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      PHA03307
      Location:442 → 643
      PHA03307; transcriptional regulator ICP4; Provisional

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      163178162..163239969 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006499972.3 → XP_006500035.1  junctophilin-2 isoform X1

      See identical proteins and their annotated locations for XP_006500035.1

      UniProtKB/Swiss-Prot
      Q3U077, Q9ET78, Q9ET79
      Conserved Domains (2) summary
      PLN03185
      Location:4 → 143
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      PHA03307
      Location:442 → 643
      PHA03307; transcriptional regulator ICP4; Provisional

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_197984.1: Suppressed sequence

      Description
      NM_197984.1: This RefSeq was permanently suppressed because it is primarily UTR sequence.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ET78.2 GenPept UniProtKB/Swiss-Prot:Q9ET78

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools