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Homo sapiens junctophilin 2 (JPH2), transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_175913 Homo sapiens junctophilin 2 (JPH2), transcript variant 2, mRNA. ORF Sequence $159.00
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_175913.3, 61699222
Length 2408 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens junctophilin 2 (JPH2), transcript variant 2, mRNA.
Product junctophilin-2 isoform 2
Comment

Summary: 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].


Transcript Variant: This variant (2) uses an alternate 3' terminal exon, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.

RefSeq NP_787109.2
CDS 874..1263
Misc Feature(1)766..768
Misc Feature(2)913..981
Misc Feature(3)913..981
Misc Feature(4)985..>1251
Misc Feature(5)985..1050
Misc Feature(6)1051..1110
Misc Feature(7)1117..1185
Exon (1)1..1252
Gene:JPH2
Gene Synonym:CMH17; JP-2; JP2
Exon (2)1253..2408
Gene:JPH2
Gene Synonym:CMH17; JP-2; JP2
Translation MSGGRFDFDDGGAYCGGWEGGKAHGHGLCTGPKGQGEYSGSWNFGFEVAGVYTWPSGNTF EGYWSQGKRHGLGIETKGRWLYKGEWTHGFKGRYGIRQSSSSGAKYEGTWNNGLQDGYGT ETYADGGMC
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Position Chain Variation Link
complement(207)-dbSNP:
complement(207)-t, cdbSNP:187369745
complement(260)-t, cdbSNP:6130562
complement(424)-g, cdbSNP:2235808
complement(473)-t, cdbSNP:41279278
complement(481)-t, gdbSNP:6031444
complement(484)-g, adbSNP:116078090
complement(495)-t, cdbSNP:6031443
complement(497)-g, adbSNP:140981935
complement(509)-g, adbSNP:78014226
complement(528)-t, cdbSNP:58248130
complement(587)-t, cdbSNP:111458058
complement(618)-t, cdbSNP:114195769
complement(757)-t, cdbSNP:73106262
complement(808)-g, adbSNP:182741761
complement(930)-c, adbSNP:143695964
complement(950)-t, cdbSNP:141664528
complement(1001)-t, cdbSNP:138992849
complement(1029)-g, adbSNP:1883790
complement(1155)-g, adbSNP:142377629
complement(1172)-g, adbSNP:145401873
complement(1243)-t, cdbSNP:150070513
complement(1244)-t, gdbSNP:191800007
complement(1254)-dbSNP:
complement(1254)-, cdbSNP:36047938
complement(1255)-t, cdbSNP:146505829
complement(1260)-g, adbSNP:201154981
complement(1268)-t, cdbSNP:202158831
complement(1284)-g, adbSNP:200421367
complement(1311)-t, gdbSNP:200892707
complement(1405)-t, gdbSNP:192094794
complement(1426)-g, adbSNP:186789957
complement(1436)-t, adbSNP:2064381
complement(1503)-g, cdbSNP:6130557
complement(1523)-t, cdbSNP:147948066
complement(1604)-g, adbSNP:111879400
complement(1664)-t, cdbSNP:183819643
complement(1702)-g, adbSNP:149364614
complement(1724)-g, adbSNP:190413349
complement(1768)-g, adbSNP:41279276
complement(1809)-t, cdbSNP:146817335
complement(1848)-g, adbSNP:141060487
complement(2020)-t, gdbSNP:185656762
complement(2111)-g, adbSNP:181161123
complement(2112)-t, gdbSNP:188188836
complement(2146)-t, cdbSNP:1055689
complement(2203)-t, adbSNP:185893651
complement(2205)-t, cdbSNP:76023267
complement(2227)-t, cdbSNP:41279274
Gene SymbolJPH2
Gene SynonymCMH17; JP-2; JP2
Chromosome20
Locus Map20q13.12
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_020433 Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA. Full Length $1680.70
ORF Sequence $606.39
NM_175913 Homo sapiens junctophilin 2 (JPH2), transcript variant 2, mRNA. Full Length $698.32
ORF Sequence $159.00
Title Hypertrophy in skeletal myotubes induced by junctophilin-2 mutant, Y141H, involves an increase in store-operated Ca2+ entry via Orai1 .
Author Woo,J.S., Cho,C.H., Lee,K.J., Kim do,H., Ma,J. and Lee,E.H.
Journal J. Biol. Chem. 287 (18), 14336-14348 (2012)
Title Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle .
Author Golini,L., Chouabe,C., Berthier,C., Cusimano,V., Fornaro,M., Bonvallet,R., Formoso,L., Giacomello,E., Jacquemond,V. and Sorrentino,V.
Journal J. Biol. Chem. 286 (51), 43717-43725 (2011)
Title Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice .
Author van Oort,R.J., Garbino,A., Wang,W., Dixit,S.S., Landstrom,A.P., Gaur,N., De Almeida,A.C., Skapura,D.G., Rudy,Y., Burns,A.R., Ackerman,M.J. and Wehrens,X.H.
Journal Circulation 123 (9), 979-988 (2011)
Title Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling .
Author Landstrom,A.P., Kellen,C.A., Dixit,S.S., van Oort,R.J., Garbino,A., Weisleder,N., Ma,J., Wehrens,X.H. and Ackerman,M.J.
Journal Circ Heart Fail 4 (2), 214-223 (2011)
Title S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle .
Author Woo,J.S., Hwang,J.H., Ko,J.K., Weisleder,N., Kim do,H., Ma,J. and Lee,E.H.
Journal Biochem. J. 427 (1), 125-134 (2010)
Title Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans .
Author 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. and Ackerman,M.J.
Journal J. Mol. Cell. Cardiol. 42 (6), 1026-1035 (2007)
Title Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy .
Author Matsushita,Y., Furukawa,T., Kasanuki,H., Nishibatake,M., Kurihara,Y., Ikeda,A., Kamatani,N., Takeshima,H. and Matsuoka,R.
Journal J. Hum. Genet. 52 (6), 543-548 (2007)
Title Junctophilin type 2 is associated with caveolin-3 and is down-regulated in the hypertrophic and dilated cardiomyopathies .
Author Minamisawa,S., Oshikawa,J., Takeshima,H., Hoshijima,M., Wang,Y., Chien,K.R., Ishikawa,Y. and Matsuoka,R.
Journal Biochem. Biophys. Res. Commun. 325 (3), 852-856 (2004)
Title The DNA sequence and comparative analysis of human chromosome 20 .
Author Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G., 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., Bridgeman,A.M., Brown,A.J., Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P., Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y., Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R., Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P., Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L., Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R., Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L., Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K., Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A., Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M., Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L., McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D., Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A., Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J., Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T., Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D., Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M., Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L., Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L., Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and Rogers,J.
Journal Nature 414 (6866), 865-871 (2001)
Title Characterization of human junctophilin subtype genes .
Author Nishi,M., Mizushima,A., Nakagawara,Ki. and Takeshima,H.
Journal Biochem. Biophys. Res. Commun. 273 (3), 920-927 (2000)

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