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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 Acetaminophen Pathway (therapeutic doses), Pharmacokinetics and Phenytoin Pathway, Pharmacokinetics. 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: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:0015127 | bilirubin transmembrane transporter activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
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:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006855 | drug transmembrane transport | IEA | -- |
GO:0006979 | response to oxidative stress | IEA | -- |
GO:0007565 | female pregnancy | IEA | -- |
GO:0009408 | response to heat | IEA | -- |
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 | 3240 | |
Methotrexate | Approved | Pharma | Transporter, substrate, inhibitor | Folate antagonist,inhibits DFHR | 1757 | |
Pravastatin | Approved | Pharma | Competitive, Inhibitor, Transporter, substrate | 161 | ||
Ritonavir | Approved, Investigational | Pharma | Transporter, substrate, inducer | HIV protease inhibitor | 941 | |
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 32 |
|
||
MRP2 33 |
|
OneToOne | |||
cow (Bos Taurus) |
Mammalia | ABCC2 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Abcc2 32 |
|
||
mouse (Mus musculus) |
Mammalia | Abcc2 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | ABCC2 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | ABCC2 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | ABCC2 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | ABCC2 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | abcc2 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | abcc2 33 32 |
|
OneToOne | |
zgc66072 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Sur 34 |
|
|
|
MRP 33 |
|
ManyToMany | |||
CG6214 34 |
|
|
|||
worm (Caenorhabditis elegans) |
Secernentea | mrp-2 34 |
|
|
|
mrp-8 34 |
|
|
|||
mrp-3 33 |
|
ManyToMany | |||
mrp-7 34 |
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|
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baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YCF1 33 |
|
OneToMany | |
thale cress (Arabidopsis thaliana) |
eudicotyledons | MRP1 32 |
|
||
wheat (Triticum aestivum) |
Liliopsida | Ta.9148 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
ManyToMany |
SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1054194575 | uncertain-significance, Dubin-Johnson syndrome | 99,831,976(+) | G/A | downstream_transcript_variant, genic_downstream_transcript_variant, splice_acceptor_variant | |
rs112339372 | likely-benign, not specified, not provided | 99,830,781(+) | G/A | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
rs112758556 | uncertain-significance, likely-benign, Dubin-Johnson syndrome, not specified, not provided | 99,830,429(+) | C/A/T | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
rs113646094 | benign, likely-benign, uncertain-significance, not specified, Dubin-Johnson syndrome, not provided | 99,804,255(+) | C/G/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
rs1137968 | likely-benign, Dubin-Johnson syndrome | 99,847,104(+) | G/T | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, 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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cholestasis |
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intrahepatic cholestasis of pregnancy |
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hyperbilirubinemia, rotor type |
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