HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
50 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.
ABCB1
ATP binding cassette subfamily B member 1
Chromosome 7 Β· 7q21.12
NCBI Gene: 5243Ensembl: ENSG00000085563.16HGNC: HGNC:40UniProt: A4D1D2
2,568PubMed Papers
22Diseases
4Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Highly Studied
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingATP bindingABC-type xenobiotic transporter activityefflux transmembrane transporter activityresponse to tramadolencephalopathy, acute transientinflammatory bowel diseasenon-small cell lung carcinoma
✦AI Summary

ABCB1 encodes P-glycoprotein, an ATP-dependent efflux pump that translocates diverse substrates including drugs and phospholipids across cellular membranes 123. The protein catalyzes ATP-driven translocation of phosphatidylcholine, phosphatidylethanolamine, and sphingomyelins from the cytoplasmic to exoplasmic leaflet 3. Structurally, ABCB1 possesses a substrate-binding site within one transmembrane domain, with transmembrane helix 4 playing a central role in conformational transitions necessary for substrate recognition and transport 4. ABCB1's broad substrate specificity enables multidrug resistance in cancer cells through energy-dependent drug efflux, limiting intracellular accumulation 12. At the blood-brain barrier, P-glycoprotein protects the central nervous system by actively extruding substrates including certain antidepressants 5. Clinically, ABCB1 polymorphisms show variable associations with drug responses. Specific SNPs (rs2032583, rs2235015) significantly predict antidepressant treatment outcome in hospitalized patients with major depression 5. However, common polymorphisms (C3435T, C1236T, G2677T/A) do not reliably predict chemotherapy response in breast cancer 6. The TTT haplotype (1236TT-2677TT-3435TT) associates with violent suicide attempt methods, particularly in first-time female attempters 7. Limited evidence suggests associations between specific ABCB1 variants and glucocorticoid-induced avascular necrosis and colorectal cancer risk in Asian populations 89.

Sources cited
1
ABCB1 translocates drugs and phospholipids across membranes and mediates energy-dependent drug efflux in multidrug-resistant cells
PMID: 2897240
2
ABCB1 functions as a drug and phospholipid transporter and efflux pump
PMID: 35970996
3
ABCB1 catalyzes phospholipid flop and translocates drugs across membranes
PMID: 8898203
4
Cryo-EM structures reveal ABCB1 substrate-binding site location and role of transmembrane helix 4 in conformational transitions
PMID: 39806099
5
ABCB1 SNPs rs2032583 and rs2235015 predict antidepressant treatment outcome in hospitalized major depression patients
PMID: 25847751
6
ABCB1 polymorphisms C3435T, C1236T, and G2677T/A do not predict chemotherapy response in breast cancer patients
PMID: 29113667
7
ABCB1 polymorphisms rs1045642 and rs2032582 reduce risk of glucocorticoid-induced avascular necrosis
PMID: 25544111
8
ABCB1 haplotype (1236TT-2677TT-3435TT) increases risk of violent suicide attempts in first-time female attempters
PMID: 25543520
9
ABCB1 rs1045642T associates with colorectal cancer risk in Asian populations; combined haplotypes may better predict genetic susceptibility
PMID: 23279665
Disease Associationsβ“˜22
response to tramadolOpen Targets
0.55Moderate
encephalopathy, acute transientOpen Targets
0.42Moderate
inflammatory bowel diseaseOpen Targets
0.39Weak
non-small cell lung carcinomaOpen Targets
0.34Weak
portal hypertensionOpen Targets
0.32Weak
acute myeloid leukemia by FAB classificationOpen Targets
0.26Weak
generalised epilepsyOpen Targets
0.26Weak
inflammatory bowel disease 13Open Targets
0.24Weak
osteomyelitisOpen Targets
0.22Weak
hyperpituitarismOpen Targets
0.22Weak
gallstonesOpen Targets
0.21Weak
cholelithiasisOpen Targets
0.20Weak
schizophreniaOpen Targets
0.16Weak
breast cancerOpen Targets
0.14Weak
ovarian cancerOpen Targets
0.13Weak
Hereditary breast and ovarian cancer syndromeOpen Targets
0.12Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
cancerOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.11Weak
Encephalopathy, acute transientUniProt
Inflammatory bowel disease 13UniProt
Pathogenic Variants4
NM_001348946.2(ABCB1):c.2380C>T (p.Arg794Ter)Pathogenic
Encephalopathy, acute transient
β˜†β˜†β˜†β˜†2024β†’ Residue 794
NM_001348946.2(ABCB1):c.2786+1G>TPathogenic
Encephalopathy, acute transient
β˜†β˜†β˜†β˜†2024
NM_001348946.2(ABCB1):c.2678C>A (p.Ser893Tyr)Likely pathogenic
Idiopathic generalized epilepsy
β˜†β˜†β˜†β˜†2021β†’ Residue 893
NM_001348946.2(ABCB1):c.554G>T (p.Gly185Val)Pathogenic
COLCHICINE RESISTANCE
β˜†β˜†β˜†β˜†1990β†’ Residue 185
View on ClinVar β†—
Drug Targets4
BIRICODARPhase II
Multidrug resistance-associated protein 1 inhibitor
ovarian cancer
ENCEQUIDARPhase III
P-glycoprotein 1 inhibitor
TARIQUIDARPhase III
P-glycoprotein 1 inhibitor
non-small cell lung carcinoma
VALSPODARPhase III
P-glycoprotein 1 inhibitor
acute myeloid leukemia by FAB classification
Related Genes
UGT1A4Protein interaction98%UGT1A6Protein interaction98%CYP2B6Protein interaction97%CYP2C9Protein interaction96%CYP2C8Protein interaction96%CYP3A4Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
81%
Brain
39%
Heart
26%
Ovary
15%
Lung
7%
Gene Interaction Network
Click a node to explore
ABCB1UGT1A4UGT1A6CYP2B6CYP2C9CYP2C8CYP3A4
PROTEIN STRUCTURE
Preparing viewer…
PDB8Y6H Β· 2.49 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.57Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.47 [0.38–0.57]
RankingsWhere ABCB1 stands among ~20K protein-coding genes
  • #31of 20,598
    Most Researched2,568 Β· top 1%
  • #3,659of 5,498
    Most Pathogenic Variants4
  • #3,799of 17,882
    Most Constrained (LOEUF)0.57 Β· top quartile
Genes detectedABCB1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
ABCB1 gene variants and antidepressant treatment outcome: A meta-analysis.
PMID: 25847751
Am J Med Genet B Neuropsychiatr Genet Β· 2015
1.00
2
ABCB1 gene polymorphisms and response to chemotherapy in breast cancer patients: A meta-analysis.
PMID: 29113667
Surg Oncol Β· 2017
0.90
3
The association between abcb1 gene polymorphism and clopidogrel response variability in stroke ischemic: a cross sectional study.
PMID: 38914966
BMC Neurol Β· 2024
0.84
4
The influence of COMT and ABCB1 gene polymorphisms on sufentanil analgesic effect for postoperative pain in children with fracture.
PMID: 38669362
Medicine (Baltimore) Β· 2024
0.82
5
ABCB1 gene polymorphisms and glucocorticoid-induced avascular necrosis of the femoral head susceptibility: a meta-analysis.
PMID: 25544111
Med Sci Monit Β· 2014
0.80