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JPH2 Gene

protein-coding   GIFtS: 51
GCID: GC20M042740

Junctophilin 2

  See JPH2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Junctophilin 21 2
JP22 3 5
Junctophilin Type 22 3
JP-22 3
CMH172 5
junctophilin-22

External Ids:    HGNC: 142021   Entrez Gene: 571582   Ensembl: ENSG000001495967   OMIM: 6052675   UniProtKB: Q9BR393   

Export aliases for JPH2 gene to outside databases

Previous GC identifers: GC20M042533 GC20M042431 GC20M043378 GC20M043425 GC20M042173 GC20M039477


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for JPH2 Gene:
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of
all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein
encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment
spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific
affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has
been observed at this locus and two variants encoding distinct isoforms are described. (provided by RefSeq, Jul
2008)

GeneCards Summary for JPH2 Gene:
JPH2 (junctophilin 2) is a protein-coding gene. Diseases associated with JPH2 include cardiomyopathy, familial hypertrophic 17. GO annotations related to this gene include calcium-release channel activity. An important paralog of this gene is JPH4.

UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39
Function: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma
membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for
functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for
proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated
calcium ion release. Contributes to the construction of skeletal muscle triad junctions

Gene Wiki entry for JPH2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the JPH2 gene promoter:
         SRF   TBP   CHOP-10   Spz1   Nkx6-1   SRF (504 AA)   POU3F1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): JPH2 promoter sequence
   Search Chromatin IP Primers for JPH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat JPH2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q12-q13.11

JPH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JPH2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M042740:  view genomic region     (about GC identifiers)

Start:
42,740,335 bp from pter      End:
42,816,218 bp from pter
Size:
75,884 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39 (See protein sequence)
Recommended Name: Junctophilin-2  
Size: 696 amino acids; 74222 Da
Secondary accessions: E1P5X1 O95913 Q5JY74 Q9UJN4
Alternative splicing: 2 isoforms:  Q9BR39-1   Q9BR39-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for JPH2: NX_Q9BR39

Explore proteomics data for JPH2 at MOPED

Post-translational modifications: 

  • Phosphorylation on Ser-165, probably by PKC, affects RYR1-mediated calcium ion release, interaction with TRPC3,
    and skeletal muscle myotubule development1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See JPH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_065166.2  NP_787109.2  

    ENSEMBL proteins: 
     ENSP00000362071   ENSP00000344590  

    JPH2 Human Recombinant Protein Products:

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    antibodies-online proteins for JPH2 (2 products) 

     
    antibodies-online peptides for JPH2

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    antibodies-online antibodies for JPH2 (56 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR017191 Junctophilin
     IPR003409 MORN

    Graphical View of Domain Structure for InterPro Entry Q9BR39

    ProtoNet protein and cluster: Q9BR39

    1 Blocks protein domain: IPB003409 MORN motif

    UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39
    Domain: The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, by
    interacting with phospholipids. Has affinity for phosphatidylserine, and phosphorylated phosphatidylinositols
    including PtdIns3P, PtdIns4P, PtdIns5P, PtdIns(3,5)P2 and PtdIns(3,4,5)P3
    Similarity: Belongs to the junctophilin family
    Similarity: Contains 8 MORN repeats


    Find genes that share domains with JPH2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: JPH2_HUMAN, Q9BR39
    Function: Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma
    membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for
    functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for
    proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated
    calcium ion release. Contributes to the construction of skeletal muscle triad junctions

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001786phosphatidylserine binding IDA--
    GO:0005515protein binding IPI--
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IDA--
    GO:0005547phosphatidylinositol-3,4,5-trisphosphate binding IDA--
    GO:0010314phosphatidylinositol-5-phosphate binding IDA--
         
    Find genes that share ontologies with JPH2           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Jph2):
     cardiovascular system  mortality/aging  muscle 

    Find genes that share phenotypes with JPH2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Jph2tm1Hta for JPH2

       genOway: Develop your customized and physiologically relevant rodent model for JPH2

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    hsa-miR-4291 hsa-miR-137 hsa-miR-25 hsa-miR-1260b hsa-miR-765 hsa-miR-1252 hsa-miR-1286 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidJPH2 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    JPH2_HUMAN, Q9BR39: Cell membrane; Peripheral membrane protein (By similarity). Endoplasmic reticulum membrane;
    Single-pass type IV membrane protein (By similarity). Sarcoplasmic reticulum membrane; Single-pass type IV
    membrane protein (By similarity). Note=Localized predominantly on the plasma membrane. The transmembrane domain
    is anchored in endoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma
    membrane. In heart cells, it predominantly associates along Z lines within myocytes. In skeletal muscle, it is
    specifically localized at the junction of A and I bands (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    cytosol3
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0014701junctional sarcoplasmic reticulum membrane TAS19095005
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0016529sarcoplasmic reticulum ----

    Find genes that share ontologies with JPH2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for JPH2
    Interactions:

        Search GeneGlobe Interaction Network for JPH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for JPH2 (Q9BR393 ENSP000003620714) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAV3P565393, ENSP000003419404I2D: score=2 STRING: ENSP00000341940
    SLC2A4P146723I2D: score=1 
    E2F4ENSP000003686864STRING: ENSP00000368686
    JPH1ENSP000003444884STRING: ENSP00000344488
    JPH3ENSP000002842624STRING: ENSP00000284262
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007204positive regulation of cytosolic calcium ion concentration ----
    GO:0055024regulation of cardiac muscle tissue development IEA--
    GO:0055074calcium ion homeostasis IDA--
    GO:0060314regulation of ryanodine-sensitive calcium-release channel activity TAS19095005
    GO:0060316positive regulation of ryanodine-sensitive calcium-release channel activity IDA--

    Find genes that share ontologies with JPH2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for JPH2

    2 Novoseek inferred chemical compound relationships for JPH2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ryanodine 66.1 2 17509612 (1)
    calcium 21.8 11 17509612 (5), 20095964 (1)



    Find genes that share compounds with JPH2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for JPH2 gene (2 alternative transcripts): 
    NM_020433.4  NM_175913.3  

    Unigene Cluster for JPH2:

    Junctophilin 2
    Hs.441737  [show with all ESTs]
    Unigene Representative Sequence: NM_020433
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372980(uc002xli.1) ENST00000342272(uc002xlj.3)
    miRNA
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    hsa-miR-4291 hsa-miR-137 hsa-miR-25 hsa-miR-1260b hsa-miR-765 hsa-miR-1252 hsa-miR-1286 hsa-miR-92b
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    Additional mRNA sequence: 

    AK098288.1 AK098303.1 AK304863.1 AL132999.1 BC029957.1 BC043206.2 

    4 DOTS entries:

    DT.100739903  DT.70100734  DT.438270  DT.95254408 

    Selected AceView cDNA sequences (see all 53):

    AI093476 AK098303 CF125235 AI276961 CA389883 AI656676 AK098288 AI081352 
    NM_175913 BC043206 AI242312 F23333 NM_020433 AL132999 CD672083 AL449554 
    AI760418 AA346257 AL449556 F24055 BC029957 AL449552 AW014086 AI675797 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    JPH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGGAATGG
    JPH2 Expression
    About this image

    JPH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    JPH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.441737

    UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39
    Tissue specificity: Specifically expressed in skeletal muscle and heart

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for JPH2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jph21 , 5 junctophilin 21, 5 84.65(n)1
    87.61(a)1
      2 (84.22 cM)5
    590911  NM_001205076.11  NP_001192005.11 
     1633362425 
    chicken
    (Gallus gallus)
    Aves JPH21 junctophilin 2 78.69(n)
    82.08(a)
      770867  XM_001234185.3  XP_001234186.3 
    lizard
    (Anolis carolinensis)
    Reptilia JPH26
    junctophilin 2
    61(a)
    1 ↔ 1
    4(144320942-144402372)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia jph21 junctophilin 2 65.34(n)
    71.21(a)
      100493044  XM_002933186.2  XP_002933232.1 
    zebrafish
    (Danio rerio)
    Actinopterygii jph21 junctophilin 2 62.7(n)
    66.51(a)
      553333  NM_001089364.1  NP_001082833.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta jp6
    junctophilin
    24(a)
    1 → many
    2L(9547720-9566750)
    worm
    (Caenorhabditis elegans)
    Secernentea jph-16
    Protein JPH-1 (jph-1) mRNA, complete cds
    32(a)
    1 → many
    I(7946222-7951593) WBGene00002179


    ENSEMBL Gene Tree for JPH2 (if available)
    TreeFam Gene Tree for JPH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for JPH2 gene
    JPH42  JPH12  JPH32  
    6 SIMAP similar genes for JPH2 using alignment to 2 protein entries:     JPH2_HUMAN (see all proteins):
    DKFZp779I2251    JPH1    JPH3    JPH4    LOC118812    MORN4

    Find genes that share paralogs with JPH2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for JPH2 (see all 1925)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0654724
    Cardiomyopathy, familial hypertrophic 17 (CMH17)4--see VAR_0654722 Y H mis40--------
    VAR_0654714
    Cardiomyopathy, familial hypertrophic 17 (CMH17)4--see VAR_0654712 S R mis40--------
    VAR_0654734
    Cardiomyopathy, familial hypertrophic 17 (CMH17)4--see VAR_0654732 S F mis40--------
    rs1477175511,2
    --42739837(+) CATCCC/TTTTGG 1 -- ds50010--------
    rs1813297401,2
    --42739867(+) CAAAAC/TGCAAG 1 -- ds50010--------
    rs60313921,2
    C,F,A--42739905(+) ATAGCG/ATGATA 1 -- ds50018Minor allele frequency- A:0.50NA WA EA 368
    rs1425751951,2
    --42739909(+) CGTGAC/TAACAA 1 -- ds50010--------
    rs1468989701,2
    --42739931(+) ATTTCA/TCCACT 1 -- ds50010--------
    rs60313931,2
    C,F,A,H--42740037(+) AGAAGT/CGAAGA 1 -- ds500112Minor allele frequency- C:0.44NA WA CSA EA 376
    rs1145601271,2
    F--42740047(+) AAAGTG/AGCTGG 1 -- ds50011Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for JPH2 (42740335 - 42816218 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for JPH2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1288244CNV Deletion17803354
    esv2722442CNV Deletion23290073
    esv2660521CNV Deletion23128226
    esv1407305CNV Insertion17803354
    nsv178769CNV Loss16902084
    nsv912890CNV Loss21882294
    nsv179208CNV Loss16902084

    Human Gene Mutation Database (HGMD): JPH2
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605267   
    OMIM disorders: 613873  
    UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39
  • Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM:613873]: A hereditary heart disorder characterized
    by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The
    symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by
    exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high
    risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 1 disease for JPH2:    
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    cardiomyopathy, familial hypertrophic 17

    1 disease from the University of Copenhagen DISEASES database for JPH2:
    Hypertrophic cardiomyopathy

    Find genes that share disorders with JPH2           About GenesLikeMe

    Genetic Association Database (GAD): JPH2
    Human Genome Epidemiology (HuGE) Navigator: JPH2 (3 documents)

    Export disorders for JPH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for JPH2 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with JPH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. (PubMed id 17509612)1, 2, 4, 9 Landstrom A.P.... Ackerman M.J. (J. Mol. Cell. Cardiol. 2007)
    2. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. (PubMed id 17476457)1, 2, 4, 9 Matsushita Y.... Matsuoka R. (J. Hum. Genet. 2007)
    3. Characterization of human junctophilin subtype genes. (PubMed id 10891348)1, 2, 3, 9 Nishi M.... Takeshima H. (Biochem. Biophys. Res. Commun. 2000)
    4. S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle. (PubMed id 20095964)1, 2, 9 Woo J.S....Lee E.H. (Biochem. J. 2010)
    5. Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response. (PubMed id 24001019)1, 2 Bennett H.J....Kitmitto A. (Biochem. J. 2013)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    9. Junctophilins: a novel family of junctional membrane complex proteins. (PubMed id 10949023)1, 3 Takeshima H....Kangawa K. (Mol. Cell 2000)
    10. Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle. (PubMed id 23148318)1 Murphy R.M....Lamb G.D. (J. Physiol. (Lond.) 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57158 HGNC: 14202 AceView: JPH2 Ensembl:ENSG00000149596 euGenes: HUgn57158
    ECgene: JPH2 H-InvDB: JPH2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for JPH2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for JPH2 gene:
    Search GeneIP for patents involving JPH2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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