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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. [provided by RefSeq, Jul 2008]
ABCC2 (ATP Binding Cassette Subfamily C Member 2) is a Protein Coding gene. Diseases associated with ABCC2 include Dubin-Johnson Syndrome and Bilirubin Metabolic Disorder. Among its related pathways are Statin Pathway - Generalized, Pharmacokinetics and Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling. Gene Ontology (GO) annotations related to this gene include transporter activity and protein domain specific binding. An important paralog of this gene is ABCC1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 17825285 |
GO:0005524 | ATP binding | IEA | -- |
GO:0008514 | organic anion transmembrane transporter activity | IEA,TAS | 7559771 |
GO:0008559 | xenobiotic transmembrane transporting ATPase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IEA | -- |
GO:0009986 | cell surface | IDA | 17825285 |
GO:0016020 | membrane | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006979 | response to oxidative stress | IEA | -- |
GO:0007565 | female pregnancy | IEA | -- |
GO:0009408 | response to heat | IEA | -- |
GO:0010629 | negative regulation of gene expression | IEA,ISS | -- |
GO:0015694 | mercury ion transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cisplatin | Approved | Pharma | Transporter, inducer | Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum | 3412 | |
Methotrexate | Approved | Pharma | Transporter, substrate, inhibitor | Folate antagonist,inhibits DFHR | 1825 | |
Pravastatin | Approved | Pharma | Inhibitor, Competitive, Transporter, substrate | 167 | ||
Ritonavir | Approved, Investigational | Pharma | Transporter, substrate | HIV protease inhibitor | 1023 | |
Sulfinpyrazone | Approved | Pharma | Target, Transporter, inhibitor, substrate, modulator | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3',4'-Dihydrodiol |
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O-Desmethylverapamil (D-702) |
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Compound | Action | Cas Number |
---|---|---|
CP 100356 hydrochloride | 142715-48-8 | |
Fumitremorgin C | 118974-02-0 | |
KS 176 | 1253452-78-6 | |
Vinblastine sulfate | Anti-mitotic agent | 143-67-9 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | ABCC2 30 |
|
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MRP2 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | ABCC2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Abcc2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Abcc2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ABCC2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ABCC2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ABCC2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ABCC2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | abcc2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | abcc2 30 31 |
|
OneToOne | |
zgc66072 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | Sur 32 |
|
|
|
MRP 31 |
|
ManyToMany | |||
CG6214 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | mrp-2 32 |
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|
mrp-8 32 |
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mrp-3 31 |
|
ManyToMany | |||
mrp-7 32 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YCF1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | MRP1 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.9148 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
680397 | Likely Benign: not provided | 99,817,465(+) | T/G | MISSENSE_VARIANT | |
692030 | Pathogenic: Dubin-Johnson syndrome | 99,844,329(+) | G/A | NONSENSE | |
707868 | Conflicting Interpretations: Dubin-Johnson syndrome; not provided | 99,813,059(+) | T/C | MISSENSE_VARIANT | |
708493 | Conflicting Interpretations: Dubin-Johnson syndrome; not provided | 99,784,600(+) | G/A | INTRON_VARIANT | |
710646 | Likely Benign: not provided | 99,793,996(+) | A/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv506n106 | CNV | deletion | 24896259 |
esv3423829 | CNV | duplication | 20981092 |
nsv1046030 | CNV | loss | 25217958 |
nsv1137953 | CNV | deletion | 24896259 |
nsv825539 | CNV | loss | 20364138 |
nsv825540 | CNV | gain | 20364138 |
nsv831960 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dubin-johnson syndrome |
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bilirubin metabolic disorder |
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pseudoxanthoma elasticum |
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cholestasis |
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intrahepatic cholestasis of pregnancy |
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