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Index > Protein center > JPH2(Gene name) > Human
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  • JPH2 (Gene name),
  • Junctophilin-2 (Protein name ),  JPH2_HUMAN from NCBI database.
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  • General Annotation
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  • Gene name:
    JPH2(JP2);
    Protein name:
    Junctophilin-2(JP-2);
    Alternative:
    Junctophilin type 2;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    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.
    Subcellular Location:
    Cell membrane Peripheral membrane protein Endoplasmic reticulum membrane Single-pass type IV membrane protein Sarcoplasmic reticulum membrane Single-pass type IV membrane protein 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.
    Protein Attributes:
    Sequence length:
    696
    Sequence:
    50:
    MSGGRFDFDD | GGAYCGGWEG | GKAHGHGLCT | GPKGQGEYSG | SWNFGFEVAG | 
    100:
    VYTWPSGNTF | EGYWSQGKRH | GLGIETKGRW | LYKGEWTHGF | KGRYGIRQSS | 
    150:
    SSGAKYEGTW | NNGLQDGYGT | ETYADGGTYQ | GQFTNGMRHG | YGVRQSVPYG | 
    200:
    MAVVVRSPLR | TSLSSLRSEH | SNGTVAPDSP | ASPASDGPAL | PSPAIPRGGF | 
    250:
    ALSLLANAEA | AARAPKGGGL | FQRGALLGKL | RRAESRTSVG | SQRSRVSFLK | 
    300:
    SDLSSGASDA | ASTASLGEAA | EGADEAAPFE | ADIDATTTET | YMGEWKNDKR | 
    350:
    SGFGVSERSS | GLRYEGEWLD | NLRHGYGCTT | LPDGHREEGK | YRHNVLVKDT | 
    400:
    KRRMLQLKSN | KVRQKVEHSV | EGAQRAAAIA | RQKAEIAASR | TSHAKAKAEA | 
    450:
    AEQAALAANQ | ESNIARTLAR | ELAPDFYQPG | PEYQKRRLLQ | EILENSESLL | 
    500:
    EPPDRGAGAA | GLPQPPRESP | QLHERETPRP | EGGSPSPAGT | PPQPKRPRPG | 
    550:
    VSKDGLLSPG | AWNGEPSGEG | SRSVTPSEGA | GRRSPARPAT | ERMAIEALQA | 
    600:
    PPAPSREPEV | ALYQGYHSYA | VRTTPPEPPP | FEDQPEPEVS | GSESAPSSPA | 
    650:
    TAPLQAPTLR | GPEPARETPA | KLEPKPIIPK | AEPRAKARKT | EARGLTKAGA | 
    696:
    KKKARKEAAL | AAEAEVEVEE | VPNTILICMV | ILLNIGLAIL | FVHLLT
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    MIM:
    UniGene:
    String:
    SMR:
    Pfam:
    KEGG:
    Uniprot:
     
    FOR
    ELISA Kit for Human JP-2
    ELISA Kit for Human JP-2
    ELISA Kit for Human JP-2
    ELISA Kit for Human JP-2
    CLIA Kit for Human JP-2
    CLIA Kit for Human JP-2
    CLIA Kit for Human JP-2
    CLIA Kit for Human JP-2
    Polyclonal Antibody for Human JP-2
    Polyclonal Antibody for Human JP-2
    Polyclonal Antibody for Human JP-2
    Polyclonal Antibody for Human JP-2
    Monoclonal Antibody for Human JP-2
    Monoclonal Antibody for Human JP-2
    Monoclonal Antibody for Human JP-2
    Monoclonal Antibody for Human JP-2
    Protein for Human JP-2
    Protein for Human JP-2
    Protein for Human JP-2
    Protein for Human JP-2

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    References
    1. 1.
      Stavrides G.S. , Huckle E.J. , Deloukas P.
      Submitted (1999-11) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)
    2. 2.
      "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P. , Matthews L.H. , Ashurst J.L. , Burton J. , Gilbert J.G.R. , Jones M. , Stavrides G. , Almeida J.P. , Babbage A.K. , Bagguley C.L. , Bailey J. , Barlow K.F. , Bates K.N. , Beard L.M. , Beare D.M. , Beasley O.P. , Bird C.P. , Blakey S.E. , more...
      Nature414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    3. 3.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    4. 4.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION (ISOFORM 1);TISSUE SPECIFICITY
    5. 5.
      "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V. , Blagoev B. , Gnad F. , Macek B. , Kumar C. , Mortensen P. , Mann M.
      Cell127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-469;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    6. 6.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-484; SER-486 AND THR-490;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Cervix carcinoma.
    7. 7.
      "S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle."
      Woo J.S. , Hwang J.H. , Ko J.K. , Weisleder N. , Kim do H. , Ma J. , Lee E.H.
      Biochem. J.427:125-134(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT SER-165;INTERACTION WITH TRPC3;FUNCTION;CHARACTERIZATION OF VARIANT PHE-165
    8. 8.
      "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."
      Bennett H.J. , Davenport J.B. , Collins R.F. , Trafford A.W. , Pinali C. , Kitmitto A.
      Biochem. J.456:205-217(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: MEMBRANE LIPID-BINDING;CHARACTERIZATION OF VARIANT CMH17 ARG-101;DOMAIN
    9. 9.
      "Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy."
      Matsushita Y. , Furukawa T. , Kasanuki H. , Nishibatake M. , Kurihara Y. , Ikeda A. , Kamatani N. , Takeshima H. , Matsuoka R.
      J. Hum. Genet.52:543-548(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CYS-436 AND SER-505;CHARACTERIZATION OF VARIANT SER-505
    10. 10.
      "Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans."
      Landstrom A.P. , Weisleder N. , Batalden K.B. , Bos J.M. , Tester D.J. , Ommen S.R. , Wehrens X.H. , Claycomb W.C. , Ko J.K. , Hwang M. , Pan Z. , Ma J. , Ackerman M.J.
      J. Mol. Cell. Cardiol.42:1026-1035(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH17 ARG-101; HIS-141 AND PHE-165;CHARACTERIZATION OF VARIANTS CMH17 ARG-101; HIS-141 AND PHE-165
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