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Gene Review

SLC22A5  -  solute carrier family 22 (organic...

Homo sapiens

Synonyms: CDSP, High-affinity sodium-dependent carnitine cotransporter, OCTN2, OCTN2VT, Organic cation/carnitine transporter 2, ...
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Disease relevance of SLC22A5


High impact information on SLC22A5


Chemical compound and disease context of SLC22A5


Biological context of SLC22A5


Anatomical context of SLC22A5


Associations of SLC22A5 with chemical compounds


Physical interactions of SLC22A5

  • Coexpression of PDZK2 did not affect carnitine transport activity of OCTN2 with deletion of the last four amino acids, which were found to be important for the interaction, suggesting involvement of physical interaction of the two proteins in the increase of cell surface expression of OCTN2 [18].

Other interactions of SLC22A5

  • The expression of Pgp, BCRP, OCTN2 and MCT1 differed along the small intestine, but the expression differences were greater than five-fold only for Pgp [19].
  • Between the ileum and colon, seven transcripts were differentially expressed, and MCT1, OCTN2 and MRP3 were expressed at higher levels in the colon than in the small intestine [19].
  • Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease [20].
  • In two non-consanguineous Hungarian Roma (Gypsy) children who presented with cardiomyopathy and decreased plasma carnitine levels, we identified homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2 carnitine transporter [3].
  • Reduction in CRAT, CPT 2, and OCTN2 was more than 85% [21].

Analytical, diagnostic and therapeutic context of SLC22A5


  1. Functional variants of OCTN cation transporter genes are associated with Crohn disease. Peltekova, V.D., Wintle, R.F., Rubin, L.A., Amos, C.I., Huang, Q., Gu, X., Newman, B., Van Oene, M., Cescon, D., Greenberg, G., Griffiths, A.M., St George-Hyslop, P.H., Siminovitch, K.A. Nat. Genet. (2004) [Pubmed]
  2. Analysis of chromosome 5q31-32 and psoriasis: confirmation of a susceptibility locus but no association with SNPs within SLC22A4 and SLC22A5. Friberg, C., Björck, K., Nilsson, S., Inerot, A., Wahlström, J., Samuelsson, L. J. Invest. Dermatol. (2006) [Pubmed]
  3. Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families. Melegh, B., Bene, J., Mogyorósy, G., Havasi, V., Komlósi, K., Pajor, L., Oláh, E., Kispál, G., Sumegi, B., Méhes, K. Am. J. Med. Genet. A (2004) [Pubmed]
  4. Prevalence of SLC22A4 1672T and SLC22A5 -207C Combination Defined TC Haplotype in Hungarian Ulcerative Colitis Patients. Magyari, L., Bene, J., Komlósi, K., Talián, G., Faragó, B., Csöngei, V., Járomi, L., Sáfrány, E., Sipeky, C., Lakner, L., Varga, M., Gasztonyi, B., Melegh, B. Pathol. Oncol. Res. (2007) [Pubmed]
  5. Carnitine transport by organic cation transporters and systemic carnitine deficiency. Lahjouji, K., Mitchell, G.A., Qureshi, I.A. Mol. Genet. Metab. (2001) [Pubmed]
  6. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. 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., Tsuji, A. Nat. Genet. (1999) [Pubmed]
  7. Evidence for the association of the SLC22A4 and SLC22A5 genes with type 1 diabetes: a case control study. Santiago, J.L., Martínez, A., de la Calle, H., Fernández-Arquero, M., Figueredo, M.A., de la Concha, E.G., Urcelay, E. BMC Med. Genet. (2006) [Pubmed]
  8. Characteristics of L-carnitine transport in cultured human hepatoma HLF cells. Yokogawa, K., Miya, K., Tamai, I., Higashi, Y., Nomura, M., Miyamoto, K., Tsuji, A. J. Pharm. Pharmacol. (1999) [Pubmed]
  9. Prevention of venous thromboembolism in trauma patients. Knudson, M.M., Lewis, F.R., Clinton, A., Atkinson, K., Megerman, J. The Journal of trauma. (1994) [Pubmed]
  10. Combination erythropoietin-hydroxyurea therapy in sickle cell disease: experience from the National Institutes of Health and a literature review. Little, J.A., McGowan, V.R., Kato, G.J., Partovi, K.S., Feld, J.J., Maric, I., Martyr, S., Taylor, J.G., Machado, R.F., Heller, T., Castro, O., Gladwin, M.T. Haematologica (2006) [Pubmed]
  11. Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease. Babusukumar, U., Wang, T., McGuire, E., Broeckel, U., Kugathasan, S. Am. J. Gastroenterol. (2006) [Pubmed]
  12. Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population. Martínez, A., Del Carmen Martín, M., Mendoza, J.L., Taxonera, C., Díaz-Rubio, M., de la Concha, E.G., Urcelay, E. Eur. J. Hum. Genet. (2006) [Pubmed]
  13. The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. Noble, C.L., Nimmo, E.R., Drummond, H., Ho, G.T., Tenesa, A., Smith, L., Anderson, N., Arnott, I.D., Satsangi, J. Gastroenterology (2005) [Pubmed]
  14. PDZK1 directly regulates the function of organic cation/carnitine transporter OCTN2. Kato, Y., Sai, Y., Yoshida, K., Watanabe, C., Hirata, T., Tsuji, A. Mol. Pharmacol. (2005) [Pubmed]
  15. Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. Tamai, I., Ohashi, R., Nezu, J., Yabuuchi, H., Oku, A., Shimane, M., Sai, Y., Tsuji, A. J. Biol. Chem. (1998) [Pubmed]
  16. cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. Wu, X., Prasad, P.D., Leibach, F.H., Ganapathy, V. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
  17. Cisplatin and Oxaliplatin, but Not Carboplatin and Nedaplatin, Are Substrates for Human Organic Cation Transporters (SLC22A1-3 and Multidrug and Toxin Extrusion Family). Yonezawa, A., Masuda, S., Yokoo, S., Katsura, T., Inui, K. J. Pharmacol. Exp. Ther. (2006) [Pubmed]
  18. PDZ Adaptor Protein PDZK2 Stimulates Transport Activity of Organic Cation/Carnitine Transporter OCTN2 by Modulating Cell Surface Expression. Watanabe, C., Kato, Y., Sugiura, T., Kubo, Y., Wakayama, T., Iseki, S., Tsuji, A. Drug Metab. Dispos. (2006) [Pubmed]
  19. Regional levels of drug transporters along the human intestinal tract: Co-expression of ABC and SLC transporters and comparison with Caco-2 cells. Englund, G., Rorsman, F., R??nnblom, A., Karlbom, U., Lazorova, L., Gr??sj??, J., Kindmark, A., Artursson, P. European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences. (2006) [Pubmed]
  20. Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease. Yamazaki, K., Takazoe, M., Tanaka, T., Ichimori, T., Saito, S., Iida, A., Onouchi, Y., Hata, A., Nakamura, Y. J. Hum. Genet. (2004) [Pubmed]
  21. Downregulation of carnitine acyltransferases and organic cation transporter OCTN2 in mononuclear cells in healthy elderly and patients with myelodysplastic syndromes. Karlic, H., Lohninger, A., Laschan, C., Lapin, A., Böhmer, F., Huemer, M., Guthann, E., Rappold, E., Pfeilstöcker, M. J. Mol. Med. (2003) [Pubmed]
  22. Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency. Amat di San Filippo, C., Wang, Y., Longo, N. J. Biol. Chem. (2003) [Pubmed]
  23. Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter. Amat di San Filippo, C., Longo, N. J. Biol. Chem. (2004) [Pubmed]
  24. Organic cation/carnitine transporter OCTN2 (Slc22a5) is responsible for carnitine transport across apical membranes of small intestinal epithelial cells in mouse. Kato, Y., Sugiura, M., Sugiura, T., Wakayama, T., Kubo, Y., Kobayashi, D., Sai, Y., Tamai, I., Iseki, S., Tsuji, A. Mol. Pharmacol. (2006) [Pubmed]
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