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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ABCC2
ATP binding cassette subfamily C member 2
Chromosome 10 Β· 10q24.2
NCBI Gene: 1244Ensembl: ENSG00000023839.12HGNC: HGNC:53UniProt: Q92887
361PubMed Papers
21Diseases
0Drugs
189Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingABC-type xenobiotic transporter activitybilirubin transmembrane transporter activityABC-type glutathione S-conjugate transporter activityDubin-Johnson syndromeIntrahepatic cholestasis of pregnancygenetic disordercholestasis
✦AI Summary

ABCC2 is an ATP-dependent transporter belonging to the ABC family that actively transports conjugated organic anions across cell membranes, including sulfate-, glucuronide-, and glutathione-conjugates of xenobiotics and endogenous compounds 1234. It plays a critical role in hepatobiliary excretion of bilirubin and other glucuronide conjugates, contributing to bilirubin detoxification 23. ABCC2 mediates transport of anticancer drugs (anthracyclines, vinca alkaloids, methotrexate) and HIV protease inhibitors, conferring resistance to chemotherapeutic agents including cisplatin, doxorubicin, and etoposide 135. Disease associations include Dubin-Johnson syndrome and multidrug resistance in various cancers. In colorectal cancer, elevated ABCC2 expression occurs early in adenoma-carcinoma progression 6. However, in gastric cancer, high ABCC2 expression correlates with better prognosis through GSH efflux-mediated ferroptosis vulnerability 7. ABCC2 genetic variants (rs717620, rs3740067, rs3740073) associate with chemotherapy toxicity and survival outcomes in pancreatic cancer 8 and irinotecan toxicity 9. Polymorphisms also influence oxcarbazepine maintenance doses in epilepsy treatment 10. Clinical significance includes ABCC2 as a potential therapeutic target and biomarker for cancer prognosis and drug response prediction.

Sources cited
1
ABCC2 transports conjugated organic anions and anticancer drugs, conferring drug resistance
PMID: 10220572
2
ABCC2 mediates hepatobiliary excretion of glucuronidated bilirubin in detoxification
PMID: 10421658
3
ABCC2 transports glucuronide conjugates, anticancer drugs, and HIV protease inhibitors
PMID: 11500505
4
ABCC2 transports glutathione-conjugates and sulfated bile salts
PMID: 16332456
5
ABCC2 transports HIV drugs and anticancer agents
PMID: 12441801
6
High ABCC2 expression is an early event in colorectal adenoma-carcinoma sequence
PMID: 25793771
7
High ABCC2 expression in gastric cancer induces ferroptosis vulnerability through GSH efflux and correlates with better prognosis
PMID: 39095325
8
ABCC2 SNPs (rs717620, rs3740067, rs3740073) associate with survival outcomes in pancreatic cancer
PMID: 30629142
9
ABCC2 variations contribute to irinotecan toxicity in cancer patients
PMID: 20602618
10
ABCC2 polymorphisms influence oxcarbazepine maintenance doses in epilepsy treatment
PMID: 25823783
Disease Associationsβ“˜21
Dubin-Johnson syndromeOpen Targets
0.82Strong
Intrahepatic cholestasis of pregnancyOpen Targets
0.48Moderate
genetic disorderOpen Targets
0.47Moderate
cholestasisOpen Targets
0.47Moderate
hypothyroidismOpen Targets
0.32Weak
Abnormality of the liverOpen Targets
0.29Weak
prostatitisOpen Targets
0.28Weak
autosomal recessive inherited pseudoxanthoma elasticumOpen Targets
0.26Weak
cataractOpen Targets
0.18Weak
non-alcoholic steatohepatitisOpen Targets
0.08Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
migraine disorderOpen Targets
0.08Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.08Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.07Suggestive
rectal adenocarcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
cholestasis, progressive familial intrahepatic, 12Open Targets
0.07Suggestive
intrahepatic cholestasisOpen Targets
0.07Suggestive
Dubin-Johnson syndromeUniProt
Pathogenic Variants189
NM_000392.5(ABCC2):c.3741+1G>APathogenic
Dubin-Johnson syndrome|not provided|ABCC2-related disorder
β˜…β˜…β˜†β˜†2026
NM_000392.5(ABCC2):c.3258+1G>APathogenic
not provided|ABCC2-related disorder|Dubin-Johnson syndrome
β˜…β˜…β˜†β˜†2026
NM_000392.5(ABCC2):c.1967+1G>APathogenic
not provided|Autosomal recessive inherited pseudoxanthoma elasticum|ABCC2-related disorder
β˜…β˜…β˜†β˜†2026
NM_000392.5(ABCC2):c.3337del (p.Val1114fs)Pathogenic
not provided|Dubin-Johnson syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 1114
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp)Pathogenic
not provided|Dubin-Johnson syndrome|ABCC2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 393
NM_000392.5(ABCC2):c.3811C>T (p.Arg1271Ter)Pathogenic
not provided|Dubin-Johnson syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1271
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter)Pathogenic
Dubin-Johnson syndrome|not provided|ABCC2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 1066
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter)Pathogenic
not provided|ABCC2-related disorder|Dubin-Johnson syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 325
NM_000392.5(ABCC2):c.3741+1G>TPathogenic
not provided|Dubin-Johnson syndrome|ABCC2-related disorder
β˜…β˜…β˜†β˜†2025
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His)Pathogenic
Dubin-Johnson syndrome|ABCC2-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1150
NM_000392.5(ABCC2):c.2325del (p.Tyr776fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 776
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs)Pathogenic
Dubin-Johnson syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 788
NM_000392.5(ABCC2):c.4144C>T (p.Gln1382Ter)Pathogenic
ABCC2-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1382
NM_000392.5(ABCC2):c.1968-1G>CPathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_000392.5(ABCC2):c.3463del (p.Thr1155fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1155
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg)Pathogenic
not provided|Dubin-Johnson syndrome|ABCC2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 693
NM_000392.5(ABCC2):c.584_590del (p.Pro194_Ser195insTer)Pathogenic
Dubin-Johnson syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 194
NM_000392.5(ABCC2):c.333+1G>ALikely pathogenic
not provided|Dubin-Johnson syndrome
β˜…β˜…β˜†β˜†2025
NM_000392.5(ABCC2):c.3399_3400del (p.Tyr1134fs)Pathogenic
not provided|Dubin-Johnson syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1134
NM_000392.5(ABCC2):c.3825C>G (p.Tyr1275Ter)Pathogenic
not provided|ABCC2-related disorder|Dubin-Johnson syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1275
View on ClinVar β†—
Related Genes
RDXProtein interaction100%SLC35A2Protein interaction99%UGT1A4Protein interaction98%UGT1A8Protein interaction98%UGT1A6Protein interaction98%UGT1A1Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
1%
Lung
1%
Ovary
0%
Heart
0%
Brain
0%
Gene Interaction Network
Click a node to explore
ABCC2RDXSLC35A2UGT1A4UGT1A8UGT1A6UGT1A1
PROTEIN STRUCTURE
Preparing viewer…
PDB9C12 Β· 2.75 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.76–0.98]
RankingsWhere ABCC2 stands among ~20K protein-coding genes
  • #852of 20,598
    Most Researched361 Β· top 5%
  • #368of 5,498
    Most Pathogenic Variants189 Β· top 10%
  • #9,425of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedABCC2
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
DS-8201a, a new HER2-targeting antibody-drug conjugate incorporating a novel DNA topoisomerase I inhibitor, overcomes HER2-positive gastric cancer T-DM1 resistance.
PMID: 28677116
Int J Cancer Β· 2017
1.00
2
SOX2 promotes chemoresistance, cancer stem cells properties, and epithelial-mesenchymal transition by Ξ²-catenin and Beclin1/autophagy signaling in colorectal cancer.
PMID: 33953166
Cell Death Dis Β· 2021
0.90
3
Pharmacogenetics to optimize immunosuppressant therapy in systemic lupus erythematosus: a scoping review.
PMID: 40208755
Pharmacogenomics Β· 2025
0.88
4
Irinotecan pharmacogenomics.
PMID: 20602618
Pharmacogenomics Β· 2010
0.80
5
ABCC2 induces metabolic vulnerability and cellular ferroptosis via enhanced glutathione efflux in gastric cancer.
PMID: 39095325
Clin Transl Med Β· 2024
0.70