Reviewed March 2009
What is the official name of the ABCC2 gene?
The official name of this gene is “ATP binding cassette subfamily C member 2.”
ABCC2 is the gene's official symbol. The ABCC2 gene is also known by other names, listed below.
What is the normal function of the ABCC2 gene?
The ABCC2 gene provides instructions for producing a protein called multidrug resistance protein 2 (MRP2). This protein is one of a family of multidrug resistance proteins involved in the transport of substances out of cells. MRP2 is primarily found in the liver, with smaller amounts in the kidneys, intestine, and placenta.
MRP2 transports a variety of substances out of cells. For example, MRP2 clears certain drugs from organs and tissues, playing a part in drug metabolism. Drug metabolism involves the breakdown of drugs into different chemical components allowing the drugs to have their intended effects and eventually be eliminated from the body. MRP2 also transports a substance called bilirubin out of liver cells and into bile (a digestive fluid produced by the liver). Bilirubin is produced during the breakdown of old red blood cells and has an orange-yellow tint.
Does the ABCC2 gene share characteristics with other genes?
The ABCC2 gene belongs to a family of genes called ABC (ATP-binding cassette transporters). It also belongs to a family of genes called ATP (ATPases).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the ABCC2 gene related to health conditions?
- Dubin-Johnson syndrome - caused by mutations in the ABCC2 gene
More than 30 mutations in the ABCC2 gene have been found to cause Dubin-Johnson syndrome. Most of these mutations change single protein building blocks (amino acids) in MRP2. One mutation is most common among Iranian Jews living in Israel; this mutation replaces the amino acid isoleucine with the amino acid phenylalanine at position 1173 in MRP2 (written as Ile1173Phe or I1173F). Another mutation is seen more frequently among Israel's Moroccan-Jewish population; it replaces the amino acid arginine with the amino acid histidine at position 1150 in MRP2 (written as Arg1150His or R1150H).
ABCC2 gene mutations that cause Dubin-Johnson syndrome have a variety of effects on the structure and function of MRP2. Mutations may alter how the protein is made, impair transport of the protein to the cell surface, or cause the protein to be broken down too quickly. A lack of functional MRP2 disrupts the excretion of bilirubin from the body. A buildup of bilirubin causes yellowing of the skin and whites of the eyes (jaundice) in people with Dubin-Johnson syndrome.
- cancers - associated with the ABCC2 gene
Research has shown that the ABCC2 gene is abnormally active (overexpressed) in many types of cancer cells. Increased gene activity means that more MRP2 is produced, which can cause a problem for people receiving drug treatments for cancer. The excess MRP2 may transport certain anticancer drugs out of cancer cells before they can have their intended effect. Cancer cells with too much MRP2 can become resistant to anticancer drugs. This effect has been shown in many different types of cancers with multiple anticancer drugs.
Where is the ABCC2 gene located?
Cytogenetic Location: 10q24
Molecular Location on chromosome 10: base pairs 99,782,598 to 99,852,576
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/1244))
The ABCC2 gene is located on the long (q) arm of chromosome 10 at position 24.
More precisely, the ABCC2 gene is located from base pair 99,782,598 to base pair 99,852,576 on chromosome 10.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about ABCC2?
You and your healthcare professional may find the following resources about ABCC2 helpful.
Educational resources - Information pages
- Cancer Medicine (sixth edition, 2003): Multidrug Resistance Protein Family (http://www.ncbi.nlm.nih.gov/books/NBK13169/)
- The Human ATP-Binding Cassette (ABC) Transporter Superfamily: ABCC Genes (http://www.ncbi.nlm.nih.gov/books/NBK3/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ABCC2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1244%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28ABCC2%5BTI%5D%29%20OR%20%28MRP2%5BTI%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/601107)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ABCC2.html)
- HGNC Gene Family: ATP binding cassette subfamily C (http://www.genenames.org/cgi-bin/genefamilies/set/807)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=53)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1244)
What other names do people use for the ABCC2 gene or gene products?
- ATP-binding cassette, sub-family C (CFTR/MRP), member 2
- canalicular multispecific organic anion transporter
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding ABCC2?
amino acid ;
You may find definitions for these and many other terms in the Genetics Home Reference
- OMIM: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 2 (http://omim.org/entry/601107)
- Hinoshita E, Uchiumi T, Taguchi K, Kinukawa N, Tsuneyoshi M, Maehara Y, Sugimachi K, Kuwano M. Increased expression of an ATP-binding cassette superfamily transporter, multidrug resistance protein 2, in human colorectal carcinomas. Clin Cancer Res. 2000 Jun;6(6):2401-7. (http://www.ncbi.nlm.nih.gov/pubmed/10873092?dopt=Abstract)
- Jedlitschky G, Hoffmann U, Kroemer HK. Structure and function of the MRP2 (ABCC2) protein and its role in drug disposition. Expert Opin Drug Metab Toxicol. 2006 Jun;2(3):351-66. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16863439?dopt=Abstract)
- Keitel V, Nies AT, Brom M, Hummel-Eisenbeiss J, Spring H, Keppler D. A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). Am J Physiol Gastrointest Liver Physiol. 2003 Jan;284(1):G165-74. Epub 2002 Oct 2. (http://www.ncbi.nlm.nih.gov/pubmed/12388192?dopt=Abstract)
- König J, Nies AT, Cui Y, Leier I, Keppler D. Conjugate export pumps of the multidrug resistance protein (MRP) family: localization, substrate specificity, and MRP2-mediated drug resistance. Biochim Biophys Acta. 1999 Dec 6;1461(2):377-94. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10581368?dopt=Abstract)
- Lee JH, Chen HL, Chen HL, Ni YH, Hsu HY, Chang MH. Neonatal Dubin-Johnson syndrome: long-term follow-up and MRP2 mutations study. Pediatr Res. 2006 Apr;59(4 Pt 1):584-9. (http://www.ncbi.nlm.nih.gov/pubmed/16549534?dopt=Abstract)
- Machida I, Wakusawa S, Sanae F, Hayashi H, Kusakabe A, Ninomiya H, Yano M, Yoshioka K. Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan. J Gastroenterol. 2005 Apr;40(4):366-70. (http://www.ncbi.nlm.nih.gov/pubmed/15870973?dopt=Abstract)
- Mor-Cohen R, Zivelin A, Rosenberg N, Shani M, Muallem S, Seligsohn U. 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. 2001 Oct 5;276(40):36923-30. Epub 2001 Jul 26. (http://www.ncbi.nlm.nih.gov/pubmed/11477083?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1244)
- Nies AT, König J, Pfannschmidt M, Klar E, Hofmann WJ, Keppler D. Expression of the multidrug resistance proteins MRP2 and MRP3 in human hepatocellular carcinoma. Int J Cancer. 2001 Nov;94(4):492-9. (http://www.ncbi.nlm.nih.gov/pubmed/11745434?dopt=Abstract)
- Noma B, Sasaki T, Fujimoto Y, Serikawa M, Kobayashi K, Inoue M, Itsuki H, Kamigaki M, Minami T, Chayama K. Expression of multidrug resistance-associated protein 2 is involved in chemotherapy resistance in human pancreatic cancer. Int J Oncol. 2008 Dec;33(6):1187-94. (http://www.ncbi.nlm.nih.gov/pubmed/19020751?dopt=Abstract)
- Toh S, Wada M, Uchiumi T, Inokuchi A, Makino Y, Horie Y, Adachi Y, Sakisaka S, Kuwano M. 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. 1999 Mar;64(3):739-46. (http://www.ncbi.nlm.nih.gov/pubmed/10053008?dopt=Abstract)
- Tsujii H, König J, Rost D, Stöckel B, Leuschner U, Keppler D. Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. Gastroenterology. 1999 Sep;117(3):653-60. (http://www.ncbi.nlm.nih.gov/pubmed/10464142?dopt=Abstract)
- Zhou SF, Wang LL, Di YM, Xue CC, Duan W, Li CG, Li Y. Substrates and inhibitors of human multidrug resistance associated proteins and the implications in drug development. Curr Med Chem. 2008;15(20):1981-2039. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18691054?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.