ABCC2
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ATP-binding cassette, sub-family C (CFTR/MRP), member 2
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Identifiers | ||||||||||||||
Symbol(s) | ABCC2; ABC30; CMOAT; DJS; KIAA1010; MRP2; cMRP | |||||||||||||
External IDs | OMIM: 601107 MGI: 1352447 HomoloGene: 68052 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 1244 | 12780 | ||||||||||||
Ensembl | ENSG00000023839 | ENSMUSG00000025194 | ||||||||||||
Uniprot | Q92887 | Q8VI46 | ||||||||||||
Refseq | NM_000392 (mRNA) NP_000383 (protein) |
NM_013806 (mRNA) NP_038834 (protein) |
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Location | Chr 10: 101.53 - 101.6 Mb | Chr 19: 43.84 - 43.89 Mb | ||||||||||||
Pubmed search | [1] | [2] |
ATP-binding cassette, sub-family C (CFTR/MRP), member 2, also known as ABCC2, is a human gene.[1]
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily, which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia.[1]
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[edit] See also
[edit] References
[edit] Further reading
- Keppler D, König J (2001). "Hepatic secretion of conjugated drugs and endogenous substances.". Semin. Liver Dis. 20 (3): 265–72. PMID 11076395.
- Gerk PM, Vore M (2002). "Regulation of expression of the multidrug resistance-associated protein 2 (MRP2) and its role in drug disposition.". J. Pharmacol. Exp. Ther. 302 (2): 407–15. doi: . PMID 12130697.
- Mayer R, Kartenbeck J, Büchler M, et al. (1995). "Expression of the MRP gene-encoded conjugate export pump in liver and its selective absence from the canalicular membrane in transport-deficient mutant hepatocytes.". J. Cell Biol. 131 (1): 137–50. PMID 7559771.
- Büchler M, König J, Brom M, et al. (1996). "cDNA cloning of the hepatocyte canalicular isoform of the multidrug resistance protein, cMrp, reveals a novel conjugate export pump deficient in hyperbilirubinemic mutant rats.". J. Biol. Chem. 271 (25): 15091–8. PMID 8662992.
- Taniguchi K, Wada M, Kohno K, et al. (1996). "A human canalicular multispecific organic anion transporter (cMOAT) gene is overexpressed in cisplatin-resistant human cancer cell lines with decreased drug accumulation.". Cancer Res. 56 (18): 4124–9. PMID 8797578.
- Paulusma CC, Kool M, Bosma PJ, et al. (1997). "A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome.". Hepatology 25 (6): 1539–42. doi: . PMID 9185779.
- van Kuijck MA, Kool M, Merkx GF, et al. (1997). "Assignment of the canalicular multispecific organic anion transporter gene (CMOAT) to human chromosome 10q24 and mouse chromosome 19D2 by fluorescent in situ hybridization.". Cytogenet. Cell Genet. 77 (3-4): 285–7. PMID 9284939.
- Wada M, Toh S, Taniguchi K, et al. (1998). "Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.". Hum. Mol. Genet. 7 (2): 203–7. PMID 9425227.
- Evers R, Kool M, van Deemter L, et al. (1998). "Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA.". J. Clin. Invest. 101 (7): 1310–9. PMID 9525973.
- Kajihara S, Hisatomi A, Mizuta T, et al. (1999). "A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome.". Biochem. Biophys. Res. Commun. 253 (2): 454–7. doi: . PMID 9878557.
- Toh S, Wada M, Uchiumi T, et al. (1999). "Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.". Am. J. Hum. Genet. 64 (3): 739–46. PMID 10053008.
- Schaub TP, Kartenbeck J, König J, et al. (1999). "Expression of the MRP2 gene-encoded conjugate export pump in human kidney proximal tubules and in renal cell carcinoma.". J. Am. Soc. Nephrol. 10 (6): 1159–69. PMID 10361853.
- Tsujii H, König J, Rost D, et al. (1999). "Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome.". Gastroenterology 117 (3): 653–60. PMID 10464142.
- Kocher O, Comella N, Gilchrist A, et al. (1999). "PDZK1, a novel PDZ domain-containing protein up-regulated in carcinomas and mapped to chromosome 1q21, interacts with cMOAT (MRP2), the multidrug resistance-associated protein.". Lab. Invest. 79 (9): 1161–70. PMID 10496535.
- Tanaka T, Uchiumi T, Hinoshita E, et al. (1999). "The human multidrug resistance protein 2 gene: functional characterization of the 5'-flanking region and expression in hepatic cells.". Hepatology 30 (6): 1507–12. doi: . PMID 10573531.
- St-Pierre MV, Serrano MA, Macias RI, et al. (2000). "Expression of members of the multidrug resistance protein family in human term placenta.". Am. J. Physiol. Regul. Integr. Comp. Physiol. 279 (4): R1495–503. PMID 11004020.
- Keitel V, Kartenbeck J, Nies AT, et al. (2001). "Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin-Johnson syndrome.". Hepatology 32 (6): 1317–28. doi: . PMID 11093739.
- Ito S, Ieiri I, Tanabe M, et al. (2001). "Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects.". Pharmacogenetics 11 (2): 175–84. PMID 11266082.
- Mor-Cohen R, Zivelin A, Rosenberg N, et al. (2001). "Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.". J. Biol. Chem. 276 (40): 36923–30. doi: . PMID 11477083.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.