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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu07425 Homo sapiens junctophilin 2 (JPH2), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $159.00 7-9
OHu07425C Homo sapiens junctophilin 2 (JPH2), transcript variant 2, mRNA. Customized vector On-demand $209.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_175913.3, 61699222
Length 390 bp
Structure linear
Update Date 26-FEB-2014
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)883..>1254
Misc Feature(3)883..>1254
Misc Feature(4)913..981
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
424+c, gdbSNP: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(619)-t, gdbSNP:370715973
complement(757)-t, cdbSNP:73106262
complement(775)-t, cdbSNP:368572365
complement(786)-g, adbSNP:373163039
complement(808)-g, adbSNP:182741761
complement(848)-c, adbSNP:376531411
complement(930)-c, adbSNP:143695964
complement(950)-t, cdbSNP:141664528
complement(1001)-t, cdbSNP:138992849
complement(1029)-g, adbSNP:1883790
complement(1071)-g, cdbSNP:375566439
complement(1121)-t, cdbSNP:370935576
complement(1155)-g, adbSNP:142377629
complement(1172)-g, adbSNP:145401873
complement(1243)-t, cdbSNP:150070513
complement(1244)-t, gdbSNP:191800007
complement(1246)-t, cdbSNP:372627882
complement(1255)-dbSNP:
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(1673)-t, cdbSNP:373247843
complement(1702)-g, adbSNP:149364614
complement(1724)-g, adbSNP:190413349
complement(1768)-g, adbSNP:41279276
complement(1808)-t, gdbSNP:369888621
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
2146+c, tdbSNP: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 Stock Status Price Turnaround time Business Day Select
NM_175913 Homo sapiens junctophilin 2 (JPH2), transcript variant 2, mRNA. On-demand $159.00 7-9
NM_175913 Homo sapiens junctophilin 2 (JPH2), transcript variant 2, mRNA. On-demand $159.00 7-9
NM_175913 Homo sapiens junctophilin 2 (JPH2), transcript variant 2, mRNA. On-demand $159.00 7-9
NM_175913 Homo sapiens junctophilin 2 (JPH2), transcript variant 2, mRNA. On-demand $159.00 7-9
Title 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 .
Author Bennett HJ, Davenport JB, Collins RF, Trafford AW, Pinali C and Kitmitto A.
Journal Biochem. J. 456 (2), 205-217 (2013)
Title Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle .
Author Murphy RM, Dutka TL, Horvath D, Bell JR, Delbridge LM and Lamb GD.
Journal J. Physiol. (Lond.) 591 (PT 3), 719-729 (2013)
Title Hypertrophy in skeletal myotubes induced by junctophilin-2 mutant, Y141H, involves an increase in store-operated Ca2+ entry via Orai1 .
Author Woo JS, Cho CH, Lee KJ, Kim do H, Ma J and Lee EH.
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 RJ, Garbino A, Wang W, Dixit SS, Landstrom AP, Gaur N, De Almeida AC, Skapura DG, Rudy Y, Burns AR, Ackerman MJ and Wehrens XH.
Journal Circulation 123 (9), 979-988 (2011)
Title Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans .
Author Landstrom AP, Weisleder N, Batalden KB, Bos JM, Tester DJ, Ommen SR, Wehrens XH, Claycomb WC, Ko JK, Hwang M, Pan Z, Ma J and Ackerman MJ.
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 KR, 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 LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, 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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