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

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003060 Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_003060.3, 166064030
Length 3295 bp
Structure linear
Update Date 17-APR-2013
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

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..1707
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 Synonym:CDSP; OCTN2; OCTN2VT
Exon (2)658..761
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (3)762..916
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (4)917..1088
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (5)1089..1215
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (6)1216..1316
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (7)1317..1531
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (8)1532..1714
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (9)1715..1850
Gene Synonym:CDSP; OCTN2; OCTN2VT
Exon (10)1851..3277
Gene Synonym:CDSP; OCTN2; OCTN2VT
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Position Chain Variation Link
10+c, tdbSNP:140331558
31+c, gdbSNP:4646300
58+c, gdbSNP:2631367
80+g, tdbSNP: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
227+a, cdbSNP:1045018
228+g, tdbSNP:80268429
267+g, tdbSNP:121908892
276+c, gdbSNP:72552722
298+a, gdbSNP:139203363
307+g, tdbSNP:267607052
315+c, gdbSNP:11568520
320+c, gdbSNP:72552723
323+a, tdbSNP:144020613
339+c, tdbSNP:144054688
347+g, tdbSNP:72552724
359+a, gdbSNP:72552725
381+c, tdbSNP:201427730
382+a, gdbSNP:148657753
395+c, tdbSNP:199689597
399+c, tdbSNP:202000855
400+c, tdbSNP:202088921
512+g, tdbSNP:72552726
523+c, gdbSNP:199942468
549+a, gdbSNP:2631365
605+c, tdbSNP:11544587
628+g, tdbSNP:201082652
660+a, gdbSNP:72552727
678+c, tdbSNP:150705788
688+g, tdbSNP:151231558
694+c, tdbSNP:10040427
769+c, tdbSNP:121908890
770+a, gdbSNP:121908889
786+c, tdbSNP:145350949
793+a, gdbSNP:145068530
829+c, tdbSNP:2405518
836+a, gdbSNP:200290813
855+c, tdbSNP:113656768
869+c, tdbSNP:142447950
896+a, gdbSNP:121908888
944+a, gdbSNP:185551386
947+c, tdbSNP:113443763
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
1034+a, gdbSNP:148989838
1055+c, tdbSNP:201262157
1062+a, gdbSNP:143758508
1071+c, tdbSNP:274558
1074+c, tdbSNP:200046767
1075+a, gdbSNP:143013773
1108+c, tdbSNP:121908886
1111+c, tdbSNP:72552729
1114+c, tdbSNP:150278881
1116+c, tdbSNP:146185976
1166+a, cdbSNP:72552730
1168+a, gdbSNP:75783492
1198+a, gdbSNP:77300588
1208+c, tdbSNP:200697217
1242+a, gdbSNP:1045019
1274+c, tdbSNP:142479732
1307+a, tdbSNP:150544263
1315+c, tdbSNP:68018207
1336+a, tdbSNP:61731073
1344+c, gdbSNP:139508856
1377+c, tdbSNP:200637508
1389+c, tdbSNP:202219455
1406+c, tdbSNP:149730454
1425+g, tdbSNP:72552731
1457+c, tdbSNP:144547521
1459+c, tdbSNP:267607054
1460+a, gdbSNP:121908891
1466..1467+, adbSNP:121908887
1493+a, gdbSNP:200125400
1513+a, gdbSNP:139775414
1535+c, tdbSNP:184618759
1583+c, tdbSNP:72552732
1588..1589+at, gcdbSNP:267607053
1600+g, tdbSNP:72552733
1605+c, tdbSNP:58188318
1609+g, tdbSNP:11568514
1618+a, gdbSNP:72552734
1632+a, gdbSNP:142355575
1641+a, gdbSNP:142264458
1644+c, tdbSNP:149521997
1664+c, gdbSNP:60376624
1682+g, tdbSNP:181483390
1697+c, tdbSNP:72552735
1698+c, tdbSNP:140495935
1704+c, tdbSNP:150457229
1705+a, g, tdbSNP:11568513
1715+g, tdbSNP:28383480
1717+a, gdbSNP:145147616
1727+a, gdbSNP:28383481
1756+a, cdbSNP:183379391
1786+c, tdbSNP:11568521
1813+c, tdbSNP:200479243
1816+c, tdbSNP:142391795
1832+a, gdbSNP:28383482
1843+c, gdbSNP:145792427
1850+g, tdbSNP:201307440
1852+a, gdbSNP:11568524
1854+g, tdbSNP:148233131
1879+a, gdbSNP:141181092
1907+a, gdbSNP:150775371
1909+c, tdbSNP:11568525
1985+c, tdbSNP:1045020
2027..2028+, adbSNP:142209594
2027+, adbSNP:60522531
2027+a, cdbSNP:139072908
2031+, gdbSNP:201329220
2032+c, gdbSNP:200713706
2141+g, tdbSNP:138380116
2176+a, tdbSNP:113139850
2209+g, tdbSNP:116252376
2219+a, tdbSNP:190955191
2254+c, tdbSNP:183289645
2408+c, tdbSNP:187964154
2472+c, gdbSNP:137938350
2482+a, gdbSNP:142531910
2538+c, gdbSNP:146004611
2616+g, tdbSNP:148673968
2781+a, gdbSNP:274548
2878..2879+, tdbSNP:71800048
2881+c, tdbSNP:143842799
2886..2887+, t, ttdbSNP:68156016
2894..2895+, t, tadbSNP:34601011
2894+a, tdbSNP:72795171
2895+a, tdbSNP:200950736
2897..2898+a, cdbSNP:14701
2897..2898+, cdbSNP:144261584
2897+a, cdbSNP:9686866
2898..2899+, cdbSNP:71696961
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
Locus Map5q23.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_003060 Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA. On-demand $699.00 18
Title SLC22A5/OCTN2 expression in breast cancer is induced by estrogen via a novel intronic estrogen-response element (ERE) .
Author Wang,C., Uray,I.P., Mazumdar,A., Mayer,J.A. and Brown,P.H.
Journal Breast Cancer Res. Treat. 134 (1), 101-115 (2012)
Title Inhibition of OCTN2-mediated transport of carnitine by etoposide .
Author Hu,C., Lancaster,C.S., Zuo,Z., Hu,S., Chen,Z., Rubnitz,J.E., Baker,S.D. and Sparreboom,A.
Journal Mol. Cancer Ther. 11 (4), 921-929 (2012)
Title Expression and functional analysis of intestinal organic cation/L-carnitine transporter (OCTN) in Crohn's disease .
Author Girardin,M., Dionne,S., Goyette,P., Rioux,J., Bitton,A., Elimrani,I., Charlebois,P., Qureshi,I., Levy,E. and Seidman,E.G.
Journal J Crohns Colitis 6 (2), 189-197 (2012)
Title Genotype-phenotype correlation in primary carnitine deficiency .
Author Rose,E.C., di San Filippo,C.A., Ndukwe Erlingsson,U.C., Ardon,O., Pasquali,M. and Longo,N.
Journal Hum. Mutat. 33 (1), 118-123 (2012)
Title Identification of DLG5 and SLC22A5 gene polymorphisms in Malaysian patients with Crohn's disease .
Author Chua,K.H., Lian,L.H., Kee,B.P., Thum,C.M., Lee,W.S., Hilmi,I. and Goh,K.L.
Journal J Dig Dis 12 (6), 459-466 (2011)
Title Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter .
Author Nezu,J., Tamai,I., Oku,A., Ohashi,R., Yabuuchi,H., Hashimoto,N., Nikaido,H., Sai,Y., Koizumi,A., Shoji,Y., Takada,G., Matsuishi,T., Yoshino,M., Kato,H., Ohura,T., Tsujimoto,G., Hayakawa,J., Shimane,M. and Tsuji,A.
Journal Nat. Genet. 21 (1), 91-94 (1999)
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,P.D., Leibach,F.H. and Ganapathy,V.
Journal Biochem. Biophys. Res. Commun. 246 (3), 589-595 (1998)
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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