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JPH2 Gene

protein-coding   GIFtS: 53

GC20M042173
junctophilin 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
FLJ40969 2
JP-2 1, 2, 3
JP2 2, 3, 5
OTTHUMP00000031651 2
OTTHUMP00000031652 2
Descriptions
Junctophilin type 2 3
junctophilin 2 2
External Ids
HGNC: 142021
Entrez Gene: 571582
UniProtKB: Q9BR393
Ensembl: ENSG000001495967
Search outside databases for aliases for JPH2 gene

Previous GC identifers: GC20M042533 GC20M042431 GC20M043378 GC20M043425

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for JPH2:
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]

UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39
Function: Contributes to the stabilization of the junctional membrane complexes, which are common
to excitable cells and mediate cross-talk between cell surface and intracellular ion channels.
Probably acts by anchoring the plasma membrane and endoplasmic/sarcoplasmic reticulum. Contributes
to the construction of skeletal muscle triad junctions, and plays an essential role in heart
development (By similarity)

Gene Wiki entry for JPH2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the JPH2 gene  

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)

GeneLoc gene densities for chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M042173:     (about GC identifiers)

Start:
42,173,751 bp from pter
End:
42,249,632 bp from pter
Size:
75,882 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000020.9  NT_011362.9  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39 (See protein sequence)
Recommended Name: Junctophilin-2  
Size: 696 amino acids; 74222 Da
Subcellular location: 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)
Secondary accessions: O95913 Q5JY74 Q9UJN4
Alternative splicing: 2 isoforms:  Q9BR39-1   Q9BR39-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000344590 ENSP00000362071 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Junctophilin-2)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624 membrane fraction IEA--
    GO:0005792 microsome IEA--
    GO:0005886 plasma membrane IEA--
    GO:0014701 junctional sarcoplasmic reticulum membrane TAS19095005
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for JPH2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for JPH2
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Junctophilin-2), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for JPH2

    Assays for JPH2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR017191 Junctophilin
     IPR003409 MORN


       GeneDecks  JPH2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9BR39

    ProtoNet protein and cluster: Q9BR39

    1 Blocks protein family: IPB003409 MORN motif

    UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39
    Domain: The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma
    membrane binding, possibly by interacting with phospholipids (By similarity)
    Similarity: Belongs to the junctophilin family
    Similarity: Contains 8 MORN repeats

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (JPH2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_020433

                  Applied Biosystems Silencer® siRNAs for JPH2

                  Sigma-Aldrich siRNA for JPH2  
                         Sigma-Aldrich shRNA for JPH2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_020433
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_020433
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_020433 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_020433

    UniProtKB/Swiss-Prot: JPH2_HUMAN, Q9BR39
    Function: Contributes to the stabilization of the junctional membrane complexes, which are common
    to excitable cells and mediate cross-talk between cell surface and intracellular ion channels.
    Probably acts by anchoring the plasma membrane and endoplasmic/sarcoplasmic reticulum. Contributes
    to the construction of skeletal muscle triad junctions, and plays an essential role in heart
    development (By similarity)

    3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Jph2):

    lethality-prenatal/perinatalmuscle

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    2 Interacting proteins for JPH2 (ENSP000003620713) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAV3ENSP000003317183STRING (score=.743)
    TRGC1ENSP000003748613STRING (score=.736)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity TAS19095005
    GO:0060402 calcium ion transport into cytosol TAS19095005
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for JPH2
    2 Novoseek chemical compound relationships for JPH2 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ryanodine 60.12 2 17509612 (1)
    calcium 13.31 10 17509612 (5)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (JPH2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_020433

                  Sigma-Aldrich siRNA for JPH2  
                         Sigma-Aldrich shRNA for JPH2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_020433  NM_175913  

    REFSEQ mRNAs for JPH2 gene (2 alternative transcripts): 

    NM_020433.4   NM_175913.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_020433  NM_175913  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_020433
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_020433
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_020433 

    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    24/53 AceView cDNA sequences (see all 53 ):

    AI276961 NM_020433 CA389883 AI656676 AL132999 AK098303 BC043206 CF125235 
    NM_175913 AI093476 F23333 AI242312 AI081352 AK098288 AL449556 AI760418 
    AW014086 F24055 AA346257 CD672083 AL449554 BC029957 AL449552 F33070 

    highest scoring ESTs for JPH2:

    AI452900 AA450194 AA993161 AI081352 AI242312 AI276961 AI916069 AI916078 AL132999 AL449526 

    Unigene Cluster for JPH2:

    Junctophilin 2
    Hs.441737  [show with all ESTs]
    Unigene Representative Sequence: NM_020433


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000342272  ENST00000372980  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    JPH2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for JPH2

    1 / 2 / 3

    8 probe-sets matching JPH2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    76828_at2, 3 U95-E 1 1.00 1.00 0.68 1.68 AW014086 0.80 1.00 0.91 1
    60416_at2, 3 U95-C 1 1.00 1.00 0.71 0.90 AI081352 0.80 1.00 0.91 1

    75628_at2, 3 U95-E 2 0.94 0.97 0.89 0.47 AI452900 1.00 1.00 1.00 1

    220385_at2, 3 U133-A 1 1.00 1.00 -- -- NM_020433 0.60 1.00 0.82 1

    229578_at2, 3 U133-B 2 1.00 0.95 -- -- AA716165 0.60 1.00 0.82 1

    220385_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    229578_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --

    1553174_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    GeneDecks  JPH2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AGGGGAATGG

    SOURCE GeneReport for Unigene cluster: Hs.441737

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for JPH2 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    JPH21   -- junctophilin 2 99.13(n)
    98.69(a)
    469948  XM_525332.2  XP_525332.2 
    rat
    (Rattus norvegicus)
    Jph21   -- junctophilin 2 86.1(n)
    89.5(a)
    296345  NM_001037974.1  NP_001033063.1 
    mouse
    (Mus musculus)
    Jph21, 5 25
    junctophilin 21, 5 85.37(n)1
    88.63(a)1
    590911  NM_021566.11  NP_067541.11 
     AA6672705  AB0244475  (see all 11)
    chicken
    (Gallus gallus)
    JPH21   -- junctophilin 2 76.99(n)
    80.34(a)
    770867  XM_001234185.1  XP_001234186.1 
    zebrafish
    (Danio rerio)
    jph21   -- junctophilin 2 60.53(n)
    63.6(a)
    553333  NM_001089364.1  NP_001082833.1 
    About this table        Species with no ortholog for JPH2

    ENSEMBL Gene Tree for JPH2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for JPH2 gene
    JPH42  JPH12  JPH32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/647 NCBI SNPs in JPH2 are shown (see all 647 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 187)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 20 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs20643811,2
    A,C,F,H,O42239843(+) CTCAAA/TTATCC 2 -- int1 ut31 ese314Minor allele frequency- N:0.01NA EA EU WA 1166
    rs10557161,2
    A,C,F,H,O42174113(+) TGAAAC/TGGCAA 1 -- ut31 ese37Minor allele frequency- T:0.48EA MN EU WA 782
    rs60657051,2
    A,C,F,H42174528(+) GCCCCC/AGACTT 1 -- ut31 ese34Minor allele frequency- A:0.40EU EA WA 420
    rs60313951,2
    A,C,F,H42173722(+) TGGACC/TCACAA 1 -- ng514Minor allele frequency- T:0.50EU EA WA 408
    rs22358081,2
    A,C,F,H42249209(-) GAAGGG/CGGCCA 2 -- ut51 trp34Minor allele frequency- C:0.44EU EA WA 412
    rs10556891,2
    C,F,H,O42239133(-) TGGCAT/CAGATC 2 -- int1 ut31 ese39Minor allele frequency- C:0.36MN EU EA WA 1016
    rs38105101,2
    A,C,F,H42180661(+) TTTGGC/TCTTGG 1 A/T mis1 ese38Minor allele frequency- T:0.34EU EA WA 830
    rs10557271,2
    A,C,F42173965(-) GCATGA/GGGGGA 1 -- ut311Minor allele frequency- G:0.39MN 184
    --
    rs60314441,2
    A,C,H42249152(+) GAGGGT/GAAATT 2 -- ut51 trp33Minor allele frequency- G:0.00EA WA 258
    rs61036691,2
    C,F,H42250259(+) GGCCAG/AGAGAG 2 -- ng31 trp38Minor allele frequency- A:0.06EU EA WA 834
    About this table

    HapMap Linkage Disequilibrium images for JPH2 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 605267

    Human Gene Mutation Database: JPH2
    Human Genome Epidemiology Navigator: JPH2 (2 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/14 PubMed articles for JPH2 gene (see all 14 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 57158 HGNC: 14202 AceView: JPH2 Ensembl:ENSG00000149596 euGenes: HUgn57158
    ECgene: JPH2 H-InvDB: JPH2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for JPH2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for JPH2 Antibodies for JPH2
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for JPH2 Browse small molecules at Sigma-Aldrich
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