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Overview
| Alternate Names: | ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; ATP-binding cassette, subfamily B, member 1; DOXORUBICIN RESISTANCE; Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.; P glycoprotein 1; P glycoprotein 1/multiple drug resistance 1; P-GLYCOPROTEIN 1; PGY1; P-glycoprotein 1; P-glycoprotein-1/multiple drug resistance-1; colchicin sensitivity; doxorubicin resistance; multidrug resistance 1; multidrug resistance protein 1 |
|---|---|
| Alternate Symbols: | ABC20; ABCB1; CD243; CLCS; GP170; MDR1; MGC163296; NM_000927.1; P-GP; P-gp; PGY1 |
| PharmGKB Accession Id: | PA267 |
Details
| Cytogenetic Location: | chr7 : q21.12 |
|---|---|
| GP mRNA Boundary†: | chr7 : 86970884 - 87180500 |
| GP Gene Boundary†: | chr7 : 86967884 - 87190500 |
| Strand: | minus |
| Product Name: | ATP-binding cassette sub-family B member 1, P glycoprotein 1, colchicin sensitivity, doxorubicin resistance, multidrug resistance 1 |
†
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped
onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries
by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for
potential regulatory regions.
Introduction
The ABCB1 gene is a member of the ATP-binding cassette (ABC) transporter superfamily. The gene is also known as the multidrug-resistance 1 (MDR1) gene and its protein product is called P-glycoprotein (P-gp). ABCB1 is expressed in barrier and excretory tissues that have protective or elimination roles, such as the intestines, liver, kidney, blood-brain barrier, and placenta. ABCB1 over-expression in tumors has been implicated in multidrug resistance to cancer chemotherapeutic agents. Located on the plasma membrane, P-gp can transport a wide range of endogenous and exogenous compounds out of the cell [PMID: 10331089]. Substrates of P-gp include anticancer agents, cardiac drugs and HIV protease inhibitors. Studies have demonstrated the existence of interindividual variability in P-gp expression and function as well as clinical phenotypes related to P-gp [PMID: 7473127].
ABCB1 is located on chromosome 7q21.1 and was originally cloned by Riordan et al. in 1985 [PMID: 2863759]. The gene consists of 29 exons spanning nearly 200 kb of genomic DNA; however only 27 exons code for P-gp. There are multiple transcriptional start sites but the primary start site produces an mRNA transcript of 4360 bp that contains 28 exons. Currently, there is no evidence for the existence of splice variants. P-glycoprotein has 1280 amino acids, 12 transmembrane domains and two ATP-binding domains [PMID: 10331089].
ABCB1 has approximately 116 polymorphic sites in Caucasians and 127 in African Americans with a minor allele frequency greater than 5% (www.hapmap.org [PMID: 12893986, 11503014, 10716719]). Some of the most commonly studied variants are 1236C>T, 2677G>A/T and 3435C>T and the most commonly studied haplotype involves the 1236, 2677 and 3435 SNPs. There are many other ABCB1 variants such as -129C>T (5'-UTR), 61A>G (Asn21Asp) and 1199G>A (Ser400Asn) that have been studied in vivo and in vitro. To date, there is no clear consensus on the impact of any of these variants on drug disposition, response or toxicity. For the most commonly studied phenotypes, i.e. intestinal absorption and CNS penetration, discordant results have been published and appropriately powered studies are still needed to clarify these results. Helpful review papers have been written that summarize the substantial body of work covering ABCB1 polymorphisms and their potential impact on cellular and clinical phenotypes [PMID: 12505329, 12406646, 14749689, 15212152].
In-Depth Annotations (
)
-
rs1045642
at chr7:86976581
in
ABCB1
This SNP is well-studied but there is no clear consensus on its significance for drug disposition, response or toxicity.- Variant Name:
- ABCB1:3435C>T
- Evidence:
-
http://www.pharmgkb.org/.../variant.jsp#ImportantVariantInformationforABCB1-3435
-
rs1045642
at chr7:86976581
in
ABCB1
3435TT homozygotes showed statistically different fenofexadine area under the concentration curve (AUC) values for 0-4 hours (p = 0.036) than CC homozygotes.- Variant Name:
- ABCB1:3435C>T (ABCB1:3853C>T (dbSNP build 130))
- Related Drugs:
- fexofenadine
- Evidence:
-
PMID:11503014
-
rs1045642
at chr7:86976581
in
ABCB1
There was no significant association between the genotype C3435T distribution and the risk of Cyclosporin A failure in steroid resistance ulcerative colitis (p = 0.23).- Variant Name:
- ABCB1:3435C>T (ABCB1:3853C>T (dbSNP build 130))
- Related Drugs:
- cyclosporine
- Related Diseases:
- Colitis, Ulcerative
- Evidence:
-
PMID:17206635
-
rs2032582
at chr7:86998554
in
ABCB1
This SNP is well-studied but there is no clear consensus on its significance for drug disposition, response or toxicity.- Variant Name:
- ABCB1:2677G>A/T
- Evidence:
-
http://www.pharmgkb.org/.../variant.jsp#ImportantVariantInformationforABCB1-2677
-
rs2032582
at chr7:86998554
in
ABCB1
893Ser-expressing (ABCB1:2677G>T (Ala893Ser)) cells showed 47% lower intracellular digoxin concentration (p < .002) than Ala893-expressing cells; and 893Ser/Ser homozygotes showed statistically different fenofexadine area under the concentration curve (AUC) values for 0-4 hours (p = 0.054) than 893Ala/Ala homozygotes.- Variant Name:
- ABCB1:2677G>T/A (ABCB1:3095G>T/A (dbSNP build 130)) (Ala893Ser/Thr)
- Related Drugs:
- digoxin, fexofenadine
- Evidence:
-
PMID:11503014
-
rs2032582
at chr7:86998554
in
ABCB1
There is a significant association between the G2677T/A polymorphism distribution and the risk for cyclosporin A (CsA) failure in patients from France and Belgium with steroid resistance ulcerative colitis (p = 0.0001), defined as requiring colectomy within 30 days of CsA initiation. The 2677 TT genotype was significantly associated with the risk compared with the two other genotypes (odds ratio, 3.77; 95% confidence interval, 1.42-9.97, p = 0.007).- Variant Name:
- ABCB1:2677G>T/A (ABCB1:3095G>T/A (dbSNP build 130)) (Ala893Ser/Thr)
- Related Drugs:
- cyclosporine
- Related Diseases:
- Colitis, Ulcerative
- Evidence:
-
PMID:17206635
-
rs2032582
at chr7:86998554
in
ABCB1
The non-alanine bearing ABCB1:2677G>T/A variant is predictive of tacrolimus-induced neurotoxicity in patients after liver transplantation- Variant Name:
- ABCB1:2677G>T/A (3095G>T/A (dbSNP build 130)) (Ala893Ser/Thr)
- Related Drugs:
- tacrolimus
- Related Diseases:
- liver transplantation
- Evidence:
-
PMID:12352921
-
rs1128503
at chr7:87017537
in
ABCB1
This SNP is well known, but there is no clear consensus on its significance for drug disposition, response or toxicity.- Variant Name:
- ABCB1:1236C>T
- Evidence:
-
http://www.pharmgkb.org/.../variant.jsp#ImportantVariantInformationforABCB1-1236
Curated Annotations (
)
-
rs1045642
at chr7:86976581
in
ABCB1
rs1045642 is associated with altered inhibition by verapamil and cyclosporin A of substrate uptake in vitro.- Variant Name:
- ABCB1:C3435T
- Related Drugs:
- cyclosporine, verapamil
- Evidence:
-
PMID:17185560
-
rs1045642
at chr7:86976581
in
ABCB1
Individuals that are homozygotes for 3435T alleles of ABCB1 have increased risk of developing nortriptyline-induced postural hypotension.This variant is also associated with expression level and in vivo function of ABCB1.- Variant Name:
- ABCB1: 3435C>T
- Related Drugs:
- nortriptyline
- Related Diseases:
- Depression, Depressive Disorder, Depressive Disorder, Major, Hypotension
- Evidence:
-
PMID:12082591
-
rs1045642
at chr7:86976581
in
ABCB1
The T allele of this SNP is associated with nortriptyline-induced postural hypotension in patients treated for major depression. This SNP is not associated with response to treatment with nortriptyline or fluoxetine.- Variant Name:
- ABCB1:3435C>T
- Related Drugs:
- nortriptyline
- Related Diseases:
- Hypotension, Orthostatic
- Evidence:
-
PMID:12082591
-
rs1045642
at chr7:86976581
in
ABCB1
Indian rheumatoid arthritis patients heterozygous for this SNP (CT genotype) had about double the risk of non-response to methotrexate.- Variant Name:
- ABCB1:C3435T, MDR1:C3435T
- Related Drugs:
- methotrexate
- Related Diseases:
- Arthritis, Rheumatoid
- Evidence:
-
PMID:19093297
-
rs1045642
at chr7:86976581
in
ABCB1
The C3435T variant (rs1045642) at exon 26 in the ABCB1 was showed to influence clopidogrel absorption in patients with a cardiovascular disease. Plasma concentrations of clopidogrel and its active metabolite were reduced in patients carrying the TT genotype.- Variant Name:
- ABCB1: C3435T
- Related Drugs:
- clopidogrel
- Related Diseases:
- Cardiovascular Diseases
- Evidence:
-
PMID:17112805
PMID:19106083
-
rs1045642
at chr7:86976581
in
ABCB1
(R)-lansoprazole concentrations significantly increased in CYP2C19 extensive metabolizers with the ABCB1 C3435T C allele, but not TT genotype, after renal transplantation and treatment with tacrolimus and lansoprazole.- Variant Name:
- ABCB1:3435C>T
- Related Drugs:
- lansoprazole, tacrolimus
- Related Diseases:
- Gastroesophageal Reflux, Transplantation
- Evidence:
-
PMID:17190370
-
rs1045642
at chr7:86976581
in
ABCB1
In a study of HIV patients in South Africa, participants who experienced hepatotoxicity were less likely to have at least one T allele of the variant ABCB1:3435C>T.- Variant Name:
- ABCB1:3435C>T, MDR1 3435C>T
- Related Drugs:
- efavirenz
- Related Diseases:
- HIV
- Evidence:
-
PMID:16912957
-
rs1045642
at chr7:86976581
in
ABCB1
Decreased risk of hepatotoxicity was associated with ABCB1:3435C>T in a study of HIV patients receiving either efavirenz- or nevirapine-containing drug regimens.- Variant Name:
- ABCB1:3435C>T, MDR1 3435C>T
- Related Drugs:
- efavirenz, nevirapine
- Related Diseases:
- HIV
- Evidence:
-
PMID:16912956
-
rs1045642
at chr7:86976581
in
ABCB1
Patients with this variant with metastatic breast cancer treated with palitaxel showed a significantly lower disease control rate and lower overall survival rate than the CC variant allele.- Variant Name:
- ABCB1:3435 C>T
- Related Drugs:
- paclitaxel
- Related Diseases:
- Breast Neoplasms
- Evidence:
-
PMID:18836089
-
rs1045642
at chr7:86976581
in
ABCB1
Patients with both rs1045642 and rs2032582 variants have been associated with neutropenia from paclitaxel.- Variant Name:
- ABCB1:3435 C>T
- Related Drugs:
- paclitaxel
- Related Diseases:
- Neutropenia
- Evidence:
-
PMID:16950614
-
rs1045642
at chr7:86976581
in
ABCB1
In Slovak (White) breast cancer patients (n=221) receiving anthracycline-based chemotherapy, the CC genotype of ABCB1:3435C>T was associated with longer time to progression.- Variant Name:
- ABCB1:3435C>T; MDR1 C3435T
- Related Drugs:
- doxorubicin, epirubicin
- Related Diseases:
- Breast Neoplasms
- Evidence:
-
PMID:19752884
-
rs1045642
at chr7:86976581
in
ABCB1
Risk or phenotype-associated allele: T. Phenotype: In subjects carrying one or two T alleles of this variant, the plasma olanzapine level alone was positively associated with percent change in Brief Psychiatric Rating Scale (BPRS) score. As olanzapine plasma levels increased, the BPRS score increased. Study size: 41. Study population/ethnicity: Patients with schizophrenia; > 90% Caucasian. Significance metric(s): p = 0.02. Type of association: CO.- Variant Name:
- PGP C3435T; ABCB1:3435C>T
- Related Drugs:
- olanzapine
- Related Diseases:
- Schizophrenia
- Evidence:
-
PMID:17038883
-
rs1045642
at chr7:86976581
in
ABCB1
Functional study of rs1045642 (3435C>T) and rs1128503 (2677G>T/A): in LLC-PK1 cells expressing wild-type (2677G/3435C) or polymorphic (2677G/3435T, 2677A/3435C, 2677A/3435T, 2677T/3435C, 2677T/3435T) constructs of ABCB1 in vitro, no significant differences were observed in transcellular efflux of structurally diverse P-gp substrates, verapamil, digoxin, vinblastine or cyclosporin A.- Variant Name:
- ABCB1: c.3435C>T, mRNA 3853C>T
- Related Drugs:
- cyclosporine, digoxin, verapamil, vinblastine
- Evidence:
-
PMID:12781336
-
rs1045642
at chr7:86976581
in
ABCB1
Functional study of rs1045642 (3435C>T) and rs2032582 (2677G>T/A): in LLC-PK1 cells expressing wild-type (2677G/3435C) or polymorphic (2677G/3435T, 2677A/3435C, 2677A/3435T, 2677T/3435C, 2677T/3435T) constructs of ABCB1 in vitro, no significant differences were observed in transcellular efflux of structurally diverse P-gp substrates, verapamil, digoxin, vinblastine or cyclosporin A.- Variant Name:
- ABCB1: c.3435C>T, mRNA 3853C>T, p.Ile1145Ile
- Related Drugs:
- cyclosporine, digoxin, verapamil, vinblastine
- Evidence:
-
PMID:12781336
-
rs1045642
at chr7:86976581
in
ABCB1
No significant association between allelic ABCB1 variants, C3435T (rs1045642) and G2677T/A (Ala893Ser) (rs2032582), and phase 1 or phase 2 viral decay, changes in lymphocyte subsets over time, or plasma trough ritonavir concentrations among 31 HIV-infected individuals initiating antiretroviral therapy.- Variant Name:
- ABCB1: c.3435C>T, mRNA 3853C>T, p.Ile1145Ile
- Related Drugs:
- ritonavir
- Evidence:
-
PMID:14600574
-
rs1045642
at chr7:86976581
in
ABCB1
Haplotypes derived from the SNPs 2677G > T (rs2032582) and 3435C > T (rs1045642) do not influence the pharmacokinetics of tacrolimus in renal transplant patients- Variant Name:
- ABCB1: c.3435C>T, mRNA 3853C>T
- Related Drugs:
- tacrolimus
- Related Diseases:
- Transplantation
- Evidence:
-
PMID:15521904
-
rs1045642
at chr7:86976581
in
ABCB1
ABCB1 rs2032582 and rs1045642 genotype and peripheral blood lymphocyte efflux of P-gp substrate, rhodamine 123 (Rh123), in vitro, in healthy males: there was no significant difference in Rh123 efflux in CD56+ NK cells after 5, 10, 15, and 30 min efflux, or in CD4+ T-helper cells after 15, 30, 60, and 90 min between individuals with different genotypes. Rh123 efflux was not enhanced by a 10-day administration of P-gp inducer, rifampin, in vivo in 15 individuals before and after rifampin treatment. No genotypic effect was observed for inhibition of Rh123 efflux by P-pg inhibitor, verapamil, in vitro with CD56+ and CD4+.- Variant Name:
- ABCB1:3435C>T, mRNA 3853C>T, Ile1145Ile
- Related Drugs:
- rifampin, verapamil
- Evidence:
-
PMID:12914549
-
rs1045642
at chr7:86976581
in
ABCB1
Risk or phenotype-associated allele: None. Phenotype: Efflux of P-glycoprotein substrates (verapamil; digoxin; vinblastine; cyclosporin A) in vitro were not significantly affected by combined mutations for rs1128503 (2677G>T/A) and rs1045642 (3435C>T) in LLC-PK1 cell lines. Study size: Triplicate cell assays. Study population/ethnicity: N/A. Significance metric(s): Not significant, p > 0.05. Type of association: FA- Variant Name:
- ABCB1:3435C>T, mRNA 3853C>T, Ile1145Ile
- Related Drugs:
- cyclosporine, digoxin, verapamil, vinblastine
- Evidence:
-
PMID:12781336
-
rs1045642
at chr7:86976581
in
ABCB1
Risk or phenotype-associated allele: 3435 CT and TT genotypes. Phenotype: ABCB1 polymorphisms were associated with risk for coronary artery disease (CAD) (p<0.05). Carriers of 3435 CT and TT genotypes (63%) and 2677 non-GG (non 893Ala/Ala) genotypes (64%) had higher frequency of family history of coronary artery disease (CAD) than the 3435CC (44%, p = 0.042) and 2677GG (46%, p = 0.043) carriers. The frequency of CAD in those carrying the 3435/2677 T/T haplotype (67%) was higher than that found in 3435/2677 non-T/T individuals (47%, p = 0.021). ABCB1 substrates (antiarrhythmics, beta-blockers, diuretics, ACE inhibitors, and others) or inhibitors (antiarrhythmics, calcium antagonists, calcium channel blockers, antidepressants and others) did not affect the baseline ABCB1 expression, but ABCB1 inhibitors reversed the effects of atorvastatin on both ABCB1 and ABCC1 transporters. Study size: 136. Study population/ethnicity: Hypercholesterolemic individuals, treated with atorvastatin (10mg/day/4 weeks), evaluated for CAD risk factors at the Institute Dante Pazzanese of Cardiology and the Hospital of the Sao Paulo University in Sao Paulo City, Brazil. Significance metric(s): p < 0.05. Type of association: GN; PD; FA- Variant Name:
- ABCB1:3435C>T, mRNA 3853C>T, Ile1145Ile
- Related Drugs:
- atorvastatin
- Related Diseases:
- Coronary Artery Disease, Hypercholesterolemia
- Evidence:
-
PMID:18851956
-
rs1045642
at chr7:86976581
in
ABCB1
Clinical outcome and P-gp activity was studied in Asian patients with de novo acute myeloid leukemia taking cytarabine and idarubicin, relative to ABCB1 genotypes, C3435T (rs1045642) and G2677T/A (rs2032582, Ala893Ser/Thr). Three-year event-free survival (EFS) was higher in 2677 GG homozygotes (893Ala/Ala) (60.6%) versus non-GG genotypes (893Ser allele-harboring subjects) (21.9%; p = 0.02), and in 3435 CC homozygotes versus non-CC genotypes (p = 0.01), and for 2677GG (893Ala/Ala)/3435CC diplotypes (58.2%) versus other diplotypes (22.6%; p = 0.04); although no significant genotypic or haplotypic association was observed for overall survival (OS). The rate of complete remission was significantly higher in 3435 CC (p = 0.05) and 2677 GG (893Ala/Ala) (p = 0.04) homozygotes, and for the 3435CC/2677GG diplotype (p = 0.03) compared to non-GC haplotype homozygotes. Using an in vitro daunorubicin accumulation assay with leukemic mononuclear cells from AML patients, 3435 CC homozygotes showed significantly lower P-gp activity (7.5%) than for CT (10.7%) and TT (19.9%) genotypes (p = 0.029); and G2677T/A (Ala893Ser/Thr) genotype had no effect (p = 0.181).- Variant Name:
- ABCB1:3435C>T, mRNA 3853C>T, p.Ile1145Ile
- Related Drugs:
- cytarabine, idarubicin
- Related Diseases:
- Leukemia, Myeloid, Acute
- Evidence:
-
PMID:16331627
-
rs1045642
at chr7:86976581
in
ABCB1
Risk or phenotype-associated allele: none. Phenotype: There was no significant association between systemic exposure of tipifarnib (AUC levels) and rs1045642 genotype. Study size: 28 (16 male). Study population/ethnicity: Caucasian cancer patients, aged 34-75. Significance metric(s): Not significant, p = 0.92. Type of association: GN; PK- Variant Name:
- ABCB1: c.3435C>T, mRNA 3853C>T, p.Ile1145Ile; ABCB1*6
- Related Drugs:
- Tipifarnib
- Evidence:
-
PMID:15122075
-
rs1045642
at chr7:86976581
in
ABCB1
Risk or phenotype-associated allele: C. Phenotype: This variant is associated with nevirapine-induced hepatotoxicity in patients from Mozambique, with the T allele showing a protective effect. Study size: 156 (78 with nevirapine-induced hepatotoxicity and 78 without adverse events). Study population/ethnicity: HIV infected patients from Mozambique. Significance metric(s): p = 0.038; odds ratio: 0.42. Type of association: GN; CO- Variant Name:
- c.3435C>T
- Related Drugs:
- nevirapine
- Related Diseases:
- Drug Toxicity, HIV Infections
- Evidence:
-
PMID:20017669
-
rs72552784
at chr7:86983850
in
ABCB1
Drug efflux and cell surface expression (by MRK-16 and C219 probes) of P-gp was not different between wild-type and variant forms (single mutants: N21D, F103L, S400N, A893S, A998T, and double mutants: 21D-S400N, N21D-A893S, and S400N-A893S) in an in vitro vaccinia virus-based transient expression system. Fluroescent substrates included calcein AM, bodipy-FL-forskolin, bodipy-FL-verapamil, bodipy-FL-vinblastine, bodipy-FL-prazosin, bisantrene, and bodipy-FL-paclitaxel. There was a slight increase in wild-type P-gp efflux of bodipy-FL-paclitaxel over mutants.- Variant Name:
- ABCB1: c.2995G>A, mRNA 3413G>A, p.Ala999Thr
- Related Drugs:
- bisantrene, calcein, forskolin, prazosin, verapamil, vinblastine
- Evidence:
-
PMID:12065748
-
rs4148740
at chr7:86990039
in
ABCB1
This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.- Related Drugs:
- amitriptyline, citalopram, paroxetine, venlafaxine
- Related Diseases:
- Depression
- Evidence:
-
PMID:18215618
-
rs10280101
at chr7:86991521
in
ABCB1
This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.- Related Drugs:
- amitriptyline, citalopram, paroxetine, venlafaxine
- Related Diseases:
- Depression
- Evidence:
-
PMID:18215618
-
rs7787082
at chr7:86994987
in
ABCB1
This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.- Related Drugs:
- amitriptyline, citalopram, paroxetine, venlafaxine
- Related Diseases:
- Depression
- Evidence:
-
PMID:18215618
-
rs2032583
at chr7:86998497
in
ABCB1
This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.- Related Drugs:
- amitriptyline, citalopram, paroxetine, venlafaxine
- Related Diseases:
- Depression
- Evidence:
-
PMID:18215618
-
rs2032582
at chr7:86998554
in
ABCB1
In multiple myeloma patients treated with dexamethasone, doxorubicin, and vincristine, followed by autologous stem cell transformation (ASCT), treatment efficacy was not related to this variant. However, the overall survival of patients with the G/G genotype of this variant was significantly lower than that of patients carrying T/T or G/T alleles. In ASCT nonresponders, diplotype analysis of this variant together with another variant (ABCB1 C3435T) showed that GC/GC patients survived for less time than GC/TT and TT/TT patients.- Variant Name:
- MDR1 G2677T/A, MDR1 (2677G, 893 Ala), MDR1 (2677T, 893 Ser), MDR1 (2677A, 893 Thr)
- Related Drugs:
- dexamethasone, doxorubicin, vincristine
- Related Diseases:
- Multiple Myeloma
- Evidence:
-
PMID:18408561
-
rs2032582
at chr7:86998554
in
ABCB1
This study suggests a possible association of ABCB1 variants with SSRIs response. In a Japanese major depression sample this non-synonymous SNP showed significant association with treatment response to paroxetine.- Related Drugs:
- paroxetine
- Related Diseases:
- Depression
- Evidence:
-
PMID:17913323
-
rs2032582
at chr7:86998554
in
ABCB1
A study of 83 patients found that patients heterozygous for this variant in ABCB1 had a significantly higher clearance of paclitaxel than most other ABCB1 variants.- Variant Name:
- ABCB1: G2677T/A; Ala893Ser/Thr
- Related Drugs:
- paclitaxel
- Related Diseases:
- Ovarian Neoplasms
- Evidence:
-
PMID:19143748
-
rs2032582
at chr7:86998554
in
ABCB1
This variant maybe associated with drug resistance in chinese epilepsy patients. Sample size: 464 chinese epilepsy patients (270 drug responsive, 194 drug resistant).- Variant Name:
- ABCB1: 2677T/A>G
- Related Drugs:
- carbamazepine, clobazam, clonazepam, gabapentin, lamotrigine, levetiracetam, phenobarbital, phenytoin, topiramate, valproic acid, vigabatrin
- Related Diseases:
- Epilepsy
- Evidence:
-
PMID:19450124
-
rs2032582
at chr7:86998554
in
ABCB1
This variant have been associated with response to palitaxel.- Variant Name:
- ABCB1: 2677G>T/A
- Related Drugs:
- paclitaxel
- Evidence:
-
PMID:16467099
-
rs2032582
at chr7:86998554
in
ABCB1
Patients with epithelial ovarian cancer, with this variant, have been associated with response to taxane- and platinum-based therapy and gastrointestinal toxicity.- Variant Name:
- ABCB1: 2677G>T/A
- Related Drugs:
- carboplatin, cisplatin, docetaxel, paclitaxel, taxanes
- Related Diseases:
- Ovarian Neoplasms
- Evidence:
-
PMID:19203783
-
rs2032582
at chr7:86998554
in
ABCB1
Patients with both rs1045642 and rs2032582 variants have been associated with neutropenia from paclitaxel.- Variant Name:
- ABCB1: 2677G>T/A
- Related Drugs:
- paclitaxel
- Related Diseases:
- Neutropenia
- Evidence:
-
PMID:16950614
-
rs2032582
at chr7:86998554
in
ABCB1
Drug efflux and cell surface expression (by MRK-16 and C219 probes) of P-gp was not different between wild-type and variant forms (single mutants: N21D, F103L, S400N, A893S, A998T, and double mutants: 21D-S400N, N21D-A893S, and S400N-A893S) in an in vitro vaccinia virus-based transient expression system. Fluroescent substrates included calcein AM, bodipy-FL-forskolin, bodipy-FL-verapamil, bodipy-FL-vinblastine, bodipy-FL-prazosin, bisantrene, and bodipy-FL-paclitaxel. There was a slight increase in wild-type P-gp efflux of bodipy-FL-paclitaxel over mutants.- Variant Name:
- ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
- Related Drugs:
- bisantrene, calcein, forskolin, prazosin, verapamil, vinblastine
- Evidence:
-
PMID:12065748
-
rs2032582
at chr7:86998554
in
ABCB1
Functional study of rs1045642 (3435C>T) and rs2032582 (2677G>T/A): in LLC-PK1 cells expressing wild-type (2677G/3435C) or polymorphic (2677G/3435T, 2677A/3435C, 2677A/3435T, 2677T/3435C, 2677T/3435T) constructs of ABCB1 in vitro, no significant differences were observed in transcellular efflux of structurally diverse P-gp substrates, verapamil, digoxin, vinblastine or cyclosporin A.- Variant Name:
- ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
- Related Drugs:
- cyclosporine, digoxin, verapamil, vinblastine
- Evidence:
-
PMID:12781336
-
rs2032582
at chr7:86998554
in
ABCB1
No significant association between allelic ABCB1 variants, C3435T (rs1045642) and G2677T/A (Ala893Ser) (rs2032582), and phase 1 or phase 2 viral decay, changes in lymphocyte subsets over time, or plasma trough ritonavir concentrations among 31 HIV-infected individuals initiating antiretroviral therapy.- Variant Name:
- ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
- Related Drugs:
- ritonavir
- Evidence:
-
PMID:14600574
-
rs2032582
at chr7:86998554
in
ABCB1
Haplotypes derived from the SNPs 2677G > T (rs2032582) and 3435C > T (rs1045642) do not influence the pharmacokinetics of tacrolimus in renal transplant patients- Variant Name:
- ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
- Related Drugs:
- tacrolimus
- Related Diseases:
- Transplantation
- Evidence:
-
PMID:15521904
-
rs2032582
at chr7:86998554
in
ABCB1
peak blood concentration of cyclosporin A (CsA) was significantly lower in in myasthenia gravis patients harboring the 2677 T allele (893Ser); and trough CsA levels were significantly greater in 2677 TT homozygotes versus CC homozygotes- Variant Name:
- ABCB1:2677G>T/A, mRNA 3095G>T/A, Ala893Ser/Thr
- Related Drugs:
- cyclosporine
- Related Diseases:
- Myasthenia Gravis
- Evidence:
-
PMID:18717915
-
rs2032582
at chr7:86998554
in
ABCB1
ABCB1 rs2032582 and rs1045642 genotype and peripheral blood lymphocyte efflux of P-gp substrate, rhodamine 123 (Rh123), in vitro, in healthy males: there was no significant difference in Rh123 efflux in CD56+ NK cells after 5, 10, 15, and 30 min efflux, or in CD4+ T-helper cells after 15, 30, 60, and 90 min between individuals with different genotypes. Rh123 efflux was not enhanced by a 10-day administration of P-gp inducer, rifampin, in vivo in 15 individuals before and after rifampin treatment. No genotypic effect was observed for inhibition of Rh123 efflux by P-pg inhibitor, verapamil, in vitro with CD56+ and CD4+.- Variant Name:
- ABCB1:2677G>T/A, mRNA 3095G>T/A, Ala893Ser/Thr
- Related Drugs:
- rhodamine 123, rifampin, verapamil
- Evidence:
-
PMID:12914549
-
rs2032582
at chr7:86998554
in
ABCB1
Risk or phenotype-associated allele: 2677 T (893Ser) and A (893Thr) alleles. Phenotype: Carriers of 3435 CT and TT genotypes (63%) and 2677 non-GG (non 893Ala/Ala) genotypes (64%) had higher frequency of family history of coronary artery disease (CAD) than the 3435CC (44%, p = 0.042) and 2677GG (46%, p = 0.043) carriers. The frequency of CAD in those carrying the 3435/2677 T/T haplotype (67%) was higher than that found in 3435/2677 non-T/T individuals (47%, p = 0.021). Reduction in ABCB1 expression in peripheral blood mononuclear cells was associated with 2677 T and A alleles (p = 0.039). ABCC1 mRNA expression was reduced 50% in response to atorvastatin (p < 0.05), and correlated with 2677 T (893Ser) allele carriers versus 2677 GG (893Ala/Ala) homozygotes (p = 0.04). Increased response to atorvastatin was found in 2677A allele carriers (OR = 5.69, 95% CI = 1.28-25.24, p = 0.022). ABCB1 substrates (antiarrhythmics, beta-blockers, diuretics, ACE inhibitors, and others) or inhibitors (antiarrhythmics, calcium antagonists, calcium channel blockers, antidepressants and others) did not affect the baseline ABCB1 expression, but ABCB1 inhibitors reversed the effects of atorvastatin on both ABCB1 and ABCC1 transporters. Study size: 136. Study population/ethnicity: Hypercholesterolemic individuals, treated with atorvastatin (10mg/day/4 weeks), evaluated for CAD risk factors at the Institute Dante Pazzanese of Cardiology and the Hospital of the Sao Paulo University in Sao Paulo City, Brazil. Significance metric(s): p < 0.05. Type of association: GN; PD; FA- Variant Name:
- ABCB1:2677G>T/A, 3095G>T/A, Ala893Ser/Thr
- Related Drugs:
- atorvastatin
- Related Diseases:
- Coronary Artery Disease, Hypercholesterolemia
- Evidence:
-
PMID:18851956
-
rs2032582
at chr7:86998554
in
ABCB1
Clinical outcome and P-gp activity was studied in Asian patients with de novo acute myeloid leukemia taking cytarabine and idarubicin, relative to ABCB1 genotypes, C3435T (rs1045642) and G2677T/A (rs2032582, Ala893Ser/Thr). Three-year event-free survival (EFS) was higher in 2677 GG homozygotes (893Ala/Ala) (60.6%) versus non-GG genotypes (893Ser allele-harboring subjects) (21.9%; p = 0.02), and in 3435 CC homozygotes versus non-CC genotypes (p = 0.01), and for 2677GG (893Ala/Ala)/3435CC diplotypes (58.2%) versus other diplotypes (22.6%; p = 0.04); although no significant genotypic or haplotypic association was observed for overall survival (OS). The rate of complete remission was significantly higher in 3435 CC (p = 0.05) and 2677 GG (893Ala/Ala) (p = 0.04) homozygotes, and for the 3435CC/2677GG diplotype (p = 0.03) compared to non-GC haplotype homozygotes. Using an in vitro daunorubicin accumulation assay with leukemic mononuclear cells from AML patients, 3435 CC homozygotes showed significantly lower P-gp activity (7.5%) than for CT (10.7%) and TT (19.9%) genotypes (p = 0.029); and G2677T/A (Ala893Ser/Thr) genotype had no effect (p = 0.181).- Variant Name:
- ABCB1:2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
- Related Drugs:
- cytarabine, idarubicin
- Related Diseases:
- Leukemia, Myeloid, Acute
- Evidence:
-
PMID:16331627
-
rs2032582
at chr7:86998554
in
ABCB1
Risk or phenotype-associated allele: none. Phenotype: There was no significant association between systemic exposure of tipifarnib (AUC levels) and rs2032582 genotype. Study size: 28 (16 male). Study population/ethnicity: Caucasian cancer patients, aged 34-75. Significance metric(s): Not significant, p = 0.92. Type of association: GN; PK- Variant Name:
- ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr; ABCB1*7
- Related Drugs:
- Tipifarnib
- Evidence:
-
PMID:15122075
-
rs2032582
at chr7:86998554
in
ABCB1
Functional study of rs1045642 (3435C>T) and rs1128503 (2677G>T/A): in LLC-PK1 cells expressing wild-type (2677G/3435C) or polymorphic (2677G/3435T, 2677A/3435C, 2677A/3435T, 2677T/3435C, 2677T/3435T) constructs of ABCB1 in vitro, no significant differences were observed in transcellular efflux of structurally diverse P-gp substrates, verapamil, digoxin, vinblastine or cyclosporin A.- Variant Name:
- ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
- Related Drugs:
- cyclosporine, digoxin, verapamil, vinblastine
- Evidence:
-
PMID:12781336
-
rs4148739
at chr7:86998985
in
ABCB1
This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.- Related Drugs:
- amitriptyline, citalopram, paroxetine, venlafaxine
- Related Diseases:
- Depression
- Evidence:
-
PMID:18215618
-
rs11983225
at chr7:86999456
in
ABCB1
This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.- Related Drugs:
- amitriptyline, citalopram, paroxetine, venlafaxine
- Related Diseases:
- Depression
- Evidence:
-
PMID:18215618
-
rs10248420
at chr7:87002922
in
ABCB1
This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.- Related Drugs:
- amitriptyline, citalopram, paroxetine, venlafaxine
- Related Diseases:
- Depression
- Evidence:
-
PMID:18215618
-
rs2235040
at chr7:87003686
in
ABCB1
This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.- Related Drugs:
- amitriptyline, citalopram, paroxetine, venlafaxine
- Related Diseases:
- Depression
- Evidence:
-
PMID:18215618
-
rs12720067
at chr7:87007292
in
ABCB1
This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.- Related Drugs:
- amitriptyline, citalopram, paroxetine, venlafaxine
- Related Diseases:
- Depression
- Evidence:
-
PMID:18215618
-
rs1128503
at chr7:87017537
in
ABCB1
peak blood concentration of cyclosporin A (CsA) was significantly lower in myasthenia gravis patients harboring the 1236 T allele; and trough CsA levels were significantly greater in 1236 TT homozygotes versus CC homozygotes- Variant Name:
- ABCB1:1236T>C, mRNA 1654T>C, Gly412Gly
- Related Drugs:
- cyclosporine
- Related Diseases:
- Myasthenia Gravis
- Evidence:
-
PMID:18717915
-
rs1128503
at chr7:87017537
in
ABCB1
Risk or phenotype-associated allele: None. Phenotype: Efflux of P-glycoprotein substrates (verapamil; digoxin; vinblastine; cyclosporin A) in vitro were not significantly affected by combined mutations for rs1128503 (2677G>T/A) and rs1045642 (3435C>T) in LLC-PK1 cell lines. Study size: Triplicate cell assays. Study population/ethnicity: N/A. Significance metric(s): Not significant, p > 0.05. Type of association: FA- Variant Name:
- ABCB1:2677G>T/A, mRNA 3095G>T/A, Ala893Ser/Thr
- Related Drugs:
- cyclosporine, digoxin, verapamil, vinblastine
- Evidence:
-
PMID:12781336
-
rs1128503
at chr7:87017537
in
ABCB1
Risk or phenotype-associated allele: rs1128503 TT genotype. Phenotype: Systemic exposure of tipifarnib, based on plasma AUC levels, were 46.5% higher for patients homozygous for ABCB1*8 (3435TT) compared to the CT and CC genotypes. Study size: 28 (16 male). Study population/ethnicity: Caucasian cancer patients, aged 34-75. Significance metric(s): p = 0.047. Type of association: GN; PK- Variant Name:
- ABCB1: c.1236T>C, mRNA 1654T>C, p.Gly412Gly; ABCB1*8
- Related Drugs:
- Tipifarnib
- Evidence:
-
PMID:15122075
-
rs1128503
at chr7:87017537
in
ABCB1
Risk or phenotype-associated allele: T Phenotype: Carriers of the T variant of ABCB1:1236C>T had lower Autism Treatment Evaluation Checklist (ATEC) scores, indicating improved symptoms and response to risperidone, than CC homozygotes. Study size: 45 Study population/ethnicity: Children with Autism receiving risperidone Significance metric(s): p = 0.002 Type of association: PD- Variant Name:
- ABCB1 1236C>T, ABCB1:1236C>T
- Related Drugs:
- risperidone
- Related Diseases:
- Autistic Disorder
- Evidence:
-
PMID:19997080
-
rs2229109
at chr7:87017745
in
ABCB1
Drug efflux and cell surface expression (by MRK-16 and C219 probes) of P-gp was not different between wild-type and variant forms (single mutants: N21D, F103L, S400N, A893S, A998T, and double mutants: 21D-S400N, N21D-A893S, and S400N-A893S) in an in vitro vaccinia virus-based transient expression system. Fluroescent substrates included calcein AM, bodipy-FL-forskolin, bodipy-FL-verapamil, bodipy-FL-vinblastine, bodipy-FL-prazosin, bisantrene, and bodipy-FL-paclitaxel. There was a slight increase in wild-type P-gp efflux of bodipy-FL-paclitaxel over mutants.- Variant Name:
- ABCB1: c.1199G>A, mRNA 1617G>A, p.Ser400Asn
- Related Drugs:
- bisantrene, calcein, forskolin, prazosin, verapamil, vinblastine
- Evidence:
-
PMID:12065748
-
rs2235015
at chr7:87037500
in
ABCB1
This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.- Related Drugs:
- amitriptyline, citalopram, paroxetine, venlafaxine
- Related Diseases:
- Depression
- Evidence:
-
PMID:18215618
-
rs3789243
at chr7:87058822
in
ABCB1
This variant maybe associated with drug resistance in chinese epilepsy patients. Sample size: 464 chinese epilepsy patients (270 drug responsive, 194 drug resistant).- Related Drugs:
- carbamazepine, clobazam, clonazepam, gabapentin, lamotrigine, levetiracetam, phenobarbital, phenytoin, topiramate, valproic acid, vigabatrin
- Related Diseases:
- Epilepsy
- Evidence:
-
PMID:19450124
-
rs9282564
at chr7:87067376
in
ABCB1
Drug efflux and cell surface expression (by MRK-16 and C219 probes) of P-gp was not different between wild-type and variant forms (single mutants: N21D, F103L, S400N, A893S, A998T, and double mutants: 21D-S400N, N21D-A893S, and S400N-A893S) in an in vitro vaccinia virus-based transient expression system. Fluroescent substrates included calcein AM, bodipy-FL-forskolin, bodipy-FL-verapamil, bodipy-FL-vinblastine, bodipy-FL-prazosin, bisantrene, and bodipy-FL-paclitaxel. There was a slight increase in wild-type P-gp efflux of bodipy-FL-paclitaxel over mutants.- Variant Name:
- ABCB1: c.61A>G, mRNA 479A>G, p.Asn21Asp
- Related Drugs:
- bisantrene, calcein, forskolin, prazosin, verapamil, vinblastine
- Evidence:
-
PMID:12065748
-
rs3213619
at chr7:87068129
in
ABCB1
This variant is in exon 1b of ABCB1 and may be associated with tacrolimus pharmacokinetics in renal transplant recipients. It was also associated with lower ABCB1 mRNA expression and possibly being an useful invasive marker predicting poorly-differentiated colorectal adenocarcinomas and thereby the poor prognosis of the Japanese patients in the study.- Variant Name:
- ABCB1:T-129C
- Evidence:
-
PMID:16819187
PMID:16906020
PMID:17548681
PMID:17635180
PMID:19285054
Non-Curated Annotations (
)
-
rs28364274
at chr7:86971587
in
ABCB1
(i) Decreased intracellular calcein levels (increased function), (ii) increased intracellular BODIPy-FL- paclitaxel levels (decreased function), in transfected cells- Variant Name:
- ABCB1: V1251I
- Related Drugs:
- calcein, paclitaxel
- Evidence:
-
PMID:19940846
-
rs2229107
at chr7:86976595
in
ABCB1
Increased resistance to daunorubicin, doxorubicin, valinomycin, or actinomycin D in transformed yeast- Variant Name:
- ABCB: S1141T
- Related Drugs:
- Actinomycines, daunorubicin, doxorubicin, valinomycin
- Evidence:
-
PMID:19940846
-
rs35730308
at chr7:86976694
in
ABCB1
Decreased resistance to daunorubicin, doxorubicin, valinomycin, or actinomycin D in transformed yeast- Variant Name:
- ABCB1: W1108R
- Related Drugs:
- Actinomycines, daunorubicin, doxorubicin, valinomycin
- Evidence:
-
PMID:19940846
-
rs2032582
at chr7:86998554
in
ABCB1
Decreased intracellular calcein levels (increased function) in transfected cells- Variant Name:
- ABCB1:A893T
- Related Drugs:
- calcein
- Evidence:
-
PMID:19940846
-
rs2032582
at chr7:86998554
in
ABCB1
Increased intracellular BODIPy-FL- paclitaxel levels (decreased function) in transfected cells- Variant Name:
- ABCB1: A893S
- Related Drugs:
- paclitaxel
- Evidence:
-
PMID:19940846
-
rs35023033
at chr7:87012134
in
ABCB1
Increased resistance to daunorubicin, doxorubicin, valinomycin, or actinomycin D in transformed yeast- Variant Name:
- ABCB1: R669C
- Related Drugs:
- Actinomycines, daunorubicin, doxorubicin, valinomycin
- Evidence:
-
PMID:19940846
-
rs10276036
at chr7:87018134
in
ABCB1
The AUCs of irinotecan, SN-38, SN-38 glucuronide, and APC are influenced by rs3740066, rs2306283, rs35605, rs10276036, and rs717620 .- Variant Name:
- ABCB1: IVS9 ¿44a>G
- Related Drugs:
- irinotecan, SN-38
- Evidence:
-
PMID:19940846
-
rs35810889
at chr7:87052784
in
ABCB1
Increased resistance to daunorubicin, doxorubicin, valinomycin, or actinomycin D in transformed yeast- Variant Name:
- ABCB1: M89T
- Related Drugs:
- Actinomycines, daunorubicin, doxorubicin, valinomycin
- Evidence:
-
PMID:19940846
Variant names are different names that have been used in the literature and other resources to
refer to the same variant.
Non-curated variant information is accumulated solely by computational methods and has not
been verified by the scientific staff at PharmGKB.
Curated Information
The following genes are in curated knowledge about this gene.
| Gene | Relationship | Evidence | |
|---|---|---|---|
|
NR1I2 |
|
Publications |
|
|
NR1I3 |
|
Publications |
Non-Curated Information
A list of non-curated publications that mention this gene along with other genes is available.
PharmGKB Curated Pathways
- Antiplatelet Drug Clopidogrel Pathway (PK)
- Citalopram (PK)
- Codeine and Morphine Pathway (PK)
- Doxorubicin Pathway
- Erlotinib Pathway (PK)
- Etoposide Pathway
- Gefitinib Pathway (PK)
- Imatinib
- Irinotecan Pathway
- Irinotecan Pathway (Cancer)
- Methotrexate Pathway
- Proton Pump Inhibitor (PK)
- Statin Pathway (Atorvastatin, Lovastatin and Simvastatin PK)
- Statin Pathway (PK)
- Statin Pathway (Pravastatin PK)
- Taxane Pathway
- Vinca Alkaloids PK
- Warfarin Pathway (PK)
BioCarta Pathways†
- hypoxia and p53 in the cardiovascular system - (BioCarta via Pathway Interaction Database)
- multi-drug resistance factors - (BioCarta via Pathway Interaction Database)
PID Pathways†
†
External pathways not curated by PharmGKB.
Curated Information
The following drugs are in curated knowledge about this gene.
| Drug Class | Relationship | Evidence | |
|---|---|---|---|
|
|
antidepressants |
|
Publications |
|
|
antineoplastic agents |
|
Publications, Pathways |
|
|
antithrombotic agents |
|
Pathways |
|
|
calcium channel blockers |
|
Publications |
|
|
farnesyltransferase inhibitors |
|
Publications |
|
|
hmg coa reductase inhibitors |
|
Publications, Pathways |
|
|
non-nucleoside reverse transcriptase inhibitors |
|
Publications |
|
|
nucleosides and nucleotides excl. reverse transcriptase inhibitors |
|
Publications |
|
|
opioids |
|
Pathways |
|
|
pesticides |
|
Publications |
|
|
protease inhibitors |
|
Publications |
|
|
taxanes |
|
Variants |
|
|
vinca alkaloids and analogues |
|
Pathways |
|
|
vitamin d and analogues |
|
Publications |
|
|
xenobiotics |
|
Publications |
Non-Curated Information
A list of non-curated publications that mention this gene along with other drugs is available.
Curated Information
The following diseases are in curated knowledge about this gene.
Non-Curated Information
A list of non-curated publications that mention this gene along with other diseases is available.
Curated Phenotype Datasets
These datasets are sorted alphabetically by title.
- Midazolam and docetaxel clearance
- PK
Submitted by Mary Relling, PharmD involving ABCB1, CYP3A4, CYP3A5, docetaxel, midazolam, and Neoplastic Processes - Pharmacogenetic Risk Factors for Osteonecrosis of the Hip Among Children With Leukemia
- CO
Submitted by Mary Relling, PharmD involving ABCB1, CYP3A4, CYP3A5, GSTM1, GSTP1, GSTT1, MTHFR, NR3C1, SLC19A1, TPMT, TYMS, UGT1A1, VDR, dexamethasone, methotrexate, prednisone, , Osteonecrosis and Precursor Cell Lymphoblastic Leukemia-Lymphoma - Pharmacokinetics of etoposide, catechol metabolite
- PK
Submitted by Mary Relling, PharmD involving ABCB1, CYP3A4, CYP3A5, GSTP1, UGT1A1, VDR, etoposide, and Precursor Cell Lymphoblastic Leukemia-Lymphoma - RNA expression in metabolite and transport genes
- FA
Submitted by Howard McLeod, PharmD involving ABCB1, ABCC1, ABCC2, ABCC3, ABCC4, ABCG2, ATM, ATR, BAK1, BAX, BCL2, BCL2L1, CCNA2, CCND1, CDA, CDC2, CDC25C, CDC37, CDC45L, CDK2, CDK4, CDKN1A, CDKN1B, CDKN2A, CES1, CES2, CYP3A4, CYP3A5, DCK, DDB1, DHFR, DPYD, DPYS, DRG1, DTYMK, DUT, E2F1, ECGF1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, FASLG, FDXR, FPGS, GGH, GSTM1, GSTP1, HMGB1, MAP4, MLH1, MPO, MSH2, MSH6, MTHFR, NFKB1, NME1, NME2, NT5C, PARP1, POLB, POLH, PTGS1, PTGS2, RAD9A, RB1, RRM1, RRM2, SOD1, TDP1, TK1, TOP1, TOP2A, TP53, TUBB, TYMS, UCK2, UGT1A1, UMPS, UNG, UPB1, UPP1, XPA, XPC, XRCC1, and Colonic Neoplasms - Tacrolimus dosing and Steroid Weaning in pediatric heart transplant patients
- CO
- PK
Submitted by Burckart GJ involving ABCB1, CYP3A4, CYP3A5, glucocorticoids, prednisone, tacrolimus, and Organ Transplantation
Additional Datasets
These datasets are minimally curated and are sorted alphabetically by title.
- A Comparison of the Pharmacokinetics and Pharmacodynamics of Docetaxel between African-American and Caucasian Cancer Patients: CALGB 9871
- ABCB1 Cellular Phenotype Results for 3 Variant Sites (+89A>T, +146G>A and +193A>G)
- ABCB1 Cellular Phenotype Results for 9 Variant Sites (N21D, S400T, R669C,?)
- Drug resistance of nine ABCB1 polymorphisms
- Functional SNPs in ABCB1 Polymorphisms
- Genetic Variants in Non-nucleoside Reverse Transcriptase Inhibitor (NNRTI) associated Adverse Effects and Response to Therapy
- Genetic Variants in Selective Serotonin Reuptake Inhibitors (SSRIs) associated Adverse Events
- Genetic Variants in Tricyclic Antidepressant associated Adverse Events
- Pharmacogenetics of Minimal Residual Disease Response in Children with B-Precursor Acute Lymphoblastic Leukemia (ALL): A Report from the Children's Oncology Group
- PMT06_044.xml
- Resistance Levels of Nine ABCB1 Variants to Four Drugs
Downloads
You must sign in before you can download data.
LinkOuts
- Entrez Gene ID:
- 5243
- OMIM Accession:
- 171050
- 612244
- UCSC Genome Browser ID:
- NM_000927
- Ref Seq NM Accession:
- NM_000927
- Ref Seq NP Accession:
- AAA59575
- AAA59576
- AAA88047
- AAA88048
- AAB69423
- AAB70218
- AAI30425
- AAM49149
- AAR83914
- AAR91621
- AAR91622
- AAW82430
- ACF94687
- ACF94688
- BAD92207
- BAF82848
- CAA41558
- CAL38230
- EAL24173
- EAW76940
- EAW76941
- EAW76942
- EAW76943
- NP_000918
- O60213
- P08183
- Q59GY9
- Q6TBL4
- Ref Seq NT Accession:
- AC_000050
- AC_000068
- AC_000139
- NC_000007
- NG_011513
- NT_007933
- NT_079595
- NW_001839064
- NW_923574
- UniProtKB Accesssion:
- MDR1_HUMAN (P08183)
- Ensembl ID:
- ENSG00000085563
- GenAtlas ID:
- ABCB1
- GeneCard ID:
- ABCB1
- SOURCE ID:
- ABCB1
- MutDB ID:
- ABCB1
- PromoLign ID:
- ortho_3172
- ALFRED ID:
- LO000310E
- HuGE ID:
- ABCB1
- Comparative Toxicogenomics Acc ID:
- 5243
- ModBase:
- P08183
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.