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Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26051 Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu26051C Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA. Customized vector On-demand $269.00 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_003060.3, 166064030
Length 1674 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.
Product solute carrier family 22 member 5
Comment

Summary: Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq, Jul 2008].

RefSeq NP_003051.1
CDS 265..1938
Misc Feature(1)85..87
Misc Feature(2)298..1824
Misc Feature(3)298..1824
Misc Feature(4)325..387
Misc Feature(5)631..1794
Misc Feature(6)order(631..633,637..642,700..702,709..714,721..723,
Misc Feature(7)691..753
Misc Feature(8)781..843
Misc Feature(9)856..918
Misc Feature(10)961..1023
Misc Feature(11)1036..1098
Misc Feature(12)1288..1350
Misc Feature(13)1384..1446
Misc Feature(14)1483..1545
Misc Feature(15)1555..1617
Misc Feature(16)1651..1713
Misc Feature(17)1720..1722
Misc Feature(18)1729..1791
Exon (1)1..657
Gene:SLC22A5
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (2)658..761
Gene:SLC22A5
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (3)762..916
Gene:SLC22A5
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (4)917..1088
Gene:SLC22A5
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (5)1089..1215
Gene:SLC22A5
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (6)1216..1316
Gene:SLC22A5
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (7)1317..1531
Gene:SLC22A5
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (8)1532..1714
Gene:SLC22A5
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (9)1715..1850
Gene:SLC22A5
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (10)1851..3277
Gene:SLC22A5
Gene Synonym:CDSP; OCTN2; OCTN2VT
Translation MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSS AWRNHTVPLRLRDGREVPHSCRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFS QDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQ TGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYA FGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKA AKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFG LSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLV PPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYF VYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTR MLKDGQERPTILKSTAF
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Position Chain Variation Link
10+dbSNP:
10+c, tdbSNP:140331558
21+c, tdbSNP:370136886
31+c, gdbSNP:4646300
complement(58)-g, cdbSNP:2631367
complement(80)-t, gdbSNP:2631366
116+a, gdbSNP:57262206
126+g, tdbSNP:13180169
158+g, tdbSNP:13180186
187..188+cg, tadbSNP:71590771
187+c, tdbSNP:13180043
188+a, gdbSNP:13180295
224+a, cdbSNP:375483744
227+a, cdbSNP:1045018
228+g, tdbSNP:80268429
239+a, gdbSNP:369724970
267+g, tdbSNP:121908892
268..269+, cdbSNP:377767443
276+c, gdbSNP:72552722
298+a, gdbSNP:139203363
307+g, tdbSNP:267607052
315+c, gdbSNP:11568520
320+c, gdbSNP:72552723
323+a, tdbSNP:144020613
331..333+, ttcdbSNP:377767444
339+c, tdbSNP:144054688
347+g, tdbSNP:72552724
357+c, tdbSNP:375293546
359+a, gdbSNP:72552725
377+a, cdbSNP:369354736
381+c, tdbSNP:201427730
382+a, gdbSNP:148657753
395+c, tdbSNP:199689597
397+a, gdbSNP:376438682
399+c, tdbSNP:202000855
400+c, g, tdbSNP:202088921
401+c, tdbSNP:377767445
412+, tdbSNP:386134227
422+c, tdbSNP:373077213
471+c, gdbSNP:377767446
496+, cdbSNP:377767447
510+c, tdbSNP:377767448
512+g, tdbSNP:72552726
523+c, gdbSNP:199942468
528..529+, ggctcgccaccdbSNP:377767449
529..530+, ggctcgccaccdbSNP:386134189
542+c, gdbSNP:386134190
543+c, gdbSNP:377734902
547+c, gdbSNP:386134191
complement(549)-g, adbSNP:2631365
551+c, gdbSNP:377767450
complement(605)-t, cdbSNP:11544587
608+a, gdbSNP:386134192
613+c, tdbSNP:398123692
628+g, tdbSNP:201082652
660+dbSNP:
660+a, gdbSNP:72552727
678+c, tdbSNP:150705788
688+g, tdbSNP:151231558
694+c, tdbSNP:10040427
715+a, gdbSNP:386134193
717+a, gdbSNP:386134194
722..723+, tgdbSNP:386134195
769+dbSNP:
769+c, tdbSNP:121908890
770+a, gdbSNP:121908889
786+c, tdbSNP:145350949
793+a, gdbSNP:145068530
799+a, tdbSNP:386134196
821+c, tdbSNP:386134197
829+c, tdbSNP:2405518
836+a, gdbSNP:200290813
844+c, gdbSNP:373005205
855+c, tdbSNP:113656768
869+c, tdbSNP:142447950
893+a, gdbSNP:386134198
896+a, gdbSNP:121908888
905+c, tdbSNP:386134199
938+dbSNP:
938+c, tdbSNP:386134205
941+a, tdbSNP:373199019
944+a, gdbSNP:185551386
947+c, tdbSNP:113443763
956+c, tdbSNP:386134206
958+a, gdbSNP:188698686
959+c, tdbSNP:114269482
989+g, tdbSNP:72552728
1017+c, tdbSNP:112305333
1024+a, c, tdbSNP:121908893
1025+a, gdbSNP:200699819
1032+a, gdbSNP:386134202
1033+c, tdbSNP:386134203
1034+a, gdbSNP:148989838
1041+g, tdbSNP:370175430
1055+c, tdbSNP:201262157
1062+a, gdbSNP:143758508
1070+, tdbSNP:386134204
complement(1071)-t, cdbSNP:274558
1071+c, tdbSNP:386573186
1074+c, tdbSNP:200046767
1075+a, gdbSNP:143013773
1089+dbSNP:
1089+a, gdbSNP:386134207
1103+, cdbSNP:386134209
1103+c, tdbSNP:386134208
1108+c, tdbSNP:121908886
1109+a, gdbSNP:386134210
1111+a, c, tdbSNP:72552729
1113+g, tdbSNP:386134211
1114+c, tdbSNP:150278881
1116+c, tdbSNP:146185976
1129+c, tdbSNP:386134212
1139+a, tdbSNP:371692440
1144+a, gdbSNP:376450643
1166+a, cdbSNP:72552730
1168+a, gdbSNP:75783492
1193+c, tdbSNP:368926084
1198+a, gdbSNP:77300588
1208+c, tdbSNP:200697217
1242+dbSNP:
1242+a, gdbSNP:1045019
1255+a, cdbSNP:376012221
1273+, adbSNP:386134213
1274+c, tdbSNP:142479732
1275+c, tdbSNP:370373155
1307+a, c, tdbSNP:150544263
1315+c, tdbSNP:68018207
1336+dbSNP:
1336+a, tdbSNP:61731073
1344+c, gdbSNP:139508856
1352+c, tdbSNP:386134214
1377+c, tdbSNP:200637508
1389+c, tdbSNP:202219455
1404+a, gdbSNP:375679167
1406+c, tdbSNP:149730454
1425+g, tdbSNP:72552731
1441+c, tdbSNP:368514254
1445..1447+, tgcdbSNP:386134215
1457+c, tdbSNP:144547521
1459+c, tdbSNP:267607054
1460+a, gdbSNP:121908891
1463+a, gdbSNP:371219688
1466..1467+, adbSNP:121908887
1493+a, gdbSNP:200125400
1513+a, gdbSNP:139775414
1535+dbSNP:
1535+c, tdbSNP:184618759
1566+, gdbSNP:386134217
1583+c, tdbSNP:72552732
1588..1589+at, gcdbSNP:267607053
1588+a, gdbSNP:369179457
1600+g, tdbSNP:72552733
1604+a, gdbSNP:386134218
1605+c, tdbSNP:58188318
1606+g, tdbSNP:386134219
1609+g, tdbSNP:11568514
1617+c, tdbSNP:374662740
1618+a, gdbSNP:72552734
1632+a, gdbSNP:142355575
1641+a, gdbSNP:142264458
1644+c, tdbSNP:149521997
1656..1673+agtcagctccacagcatc, cadbSNP:386134220
1664+c, gdbSNP:60376624
1667+c, gdbSNP:386134221
1673+c, tdbSNP:386134222
1676+a, gdbSNP:386134223
1682+g, tdbSNP:181483390
1697+c, tdbSNP:72552735
1698+c, tdbSNP:140495935
1704+c, tdbSNP:150457229
1705+a, g, tdbSNP:11568513
1715+dbSNP:
1715+g, tdbSNP:28383480
1717+a, gdbSNP:145147616
1726+c, tdbSNP:377216516
1727+a, gdbSNP:28383481
1756+a, cdbSNP:183379391
1786+c, tdbSNP:11568521
1803+c, tdbSNP:370593952
1813+c, tdbSNP:200479243
1823..1824+, acacdbSNP:386134225
1832+a, gdbSNP:28383482
1843+c, gdbSNP:145792427
1850+g, tdbSNP:201307440
complement(1852)-dbSNP:
complement(1852)-g, adbSNP:11568524
1854+g, tdbSNP:148233131
1879+a, gdbSNP:141181092
1907+a, gdbSNP:150775371
1909+c, tdbSNP:11568525
1940+a, gdbSNP:375467859
1949+a, cdbSNP:375789371
1985+c, tdbSNP:1045020
2027..2028+, adbSNP:142209594
2027+, adbSNP:60522531
2027+a, cdbSNP:139072908
2028+, adbSNP:398084481
complement(2029)-, tdbSNP:397999277
2029+a, gdbSNP:113943881
2031+, gdbSNP:201329220
2032+c, gdbSNP:200713706
2100+a, gdbSNP:370616549
2141+g, tdbSNP:138380116
2176+a, tdbSNP:113139850
2209+g, tdbSNP:116252376
2219+a, tdbSNP:190955191
2227+a, cdbSNP:374638128
2254+c, tdbSNP:183289645
2408+c, tdbSNP:187964154
2472+c, gdbSNP:137938350
2482+a, gdbSNP:142531910
2538+c, gdbSNP:146004611
2616+g, tdbSNP:148673968
complement(2781)-g, adbSNP:274548
2878+(t)16, 18dbSNP:4646307
2881+c, tdbSNP:143842799
2894+a, tdbSNP:72795171
2895..2896+, tadbSNP:71800048
2895+a, tdbSNP:200950736
2897..2898+, cdbSNP:144261584
2897+a, cdbSNP:14701
2947+a, gdbSNP:373404698
2975..2986+, agtgccaaaaacdbSNP:148749750
3000+a, gdbSNP:138469584
3080+c, tdbSNP:62385689
3117+g, tdbSNP:79274129
3133+c, tdbSNP:192176261
3182+c, tdbSNP:184494469
3222+a, gdbSNP:187971062
Gene SymbolSLC22A5
Gene SynonymCDSP; OCTN2; OCTN2VT
Chromosome5
Locus Map5q23.3
Title Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy .
Author Angelini S, Pantaleo MA, Ravegnini G, Zenesini C, Cavrini G, Nannini M, Fumagalli E, Palassini E, Saponara M, Di Battista M, Casali PG, Hrelia P, Cantelli-Forti G and Biasco G.
Journal Pharmacol. Res. 68 (1), 1-6 (2013)
Title Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers .
Author Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A, Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V, Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I, Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd PM, Hayward C, Aulchenko Y, Campbell H and Rudan I.
Journal PLoS Genet. 9 (1), E1003225 (2013)
Title Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease .
Author Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC and Cho JH.
Journal Nature 491 (7422), 119-124 (2012)
Title Human OCTN2 (SLC22A5) is down-regulated in virus- and nonvirus-mediated cancer .
Author Scalise M, Galluccio M, Accardi R, Cornet I, Tommasino M and Indiveri C.
Journal Cell Biochem. Funct. 30 (5), 419-425 (2012)
Title Inhibition of OCTN2-mediated transport of carnitine by etoposide .
Author Hu C, Lancaster CS, Zuo Z, Hu S, Chen Z, Rubnitz JE, Baker SD and Sparreboom A.
Journal Mol. Cancer Ther. 11 (4), 921-929 (2012)
Title Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2 .
Author Tamai I, Ohashi R, Nezu J, Yabuuchi H, Oku A, Shimane M, Sai Y and Tsuji A.
Journal J. Biol. Chem. 273 (32), 20378-20382 (1998)
Title Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q .
Author Shoji Y, Koizumi A, Kayo T, Ohata T, Takahashi T, Harada K and Takada G.
Journal Am. J. Hum. Genet. 63 (1), 101-108 (1998)
Title cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family .
Author Wu X, Prasad PD, Leibach FH and Ganapathy V.
Journal Biochem. Biophys. Res. Commun. 246 (3), 589-595 (1998)
Title Systemic Primary Carnitine Deficiency .
Author El-Hattab,A.W.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy .
Author Matsuishi,T., Hirata,K., Terasawa,K., Kato,H., Yoshino,M., Ohtaki,E., Hirose,F., Nonaka,I., Sugiyama,N. and Ohta,K.
Journal Neuropediatrics 16 (1), 6-12 (1985)

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