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ABCB1

From SNPedia
is agene
is mentioned by
Full nameATP-binding cassette, sub-family B (MDR/TAP), member 1
Other namesMDR1
EntrezGene5243
PheGenI5243
VariationViewer5243
ClinVarABCB1
GeneCardsABCB1
dbSNP5243
DiseasesABCB1
SADR5243
HugeNav5243
wikipediaABCB1
googleABCB1
gopubmedABCB1
EVSABCB1
HEFalMpABCB1
MyGene2ABCB1
23andMeABCB1
UniProtP08183
EnsemblENSG00000085563
OMIM171050
# SNPs46
 Max MagnitudeChromosome positionSummary
rs1002205087,511,858
rs102484201.187,535,670
rs10276036087,550,882
rs10280101087,524,269
rs1045642387,509,329
rs1128501087,566,218
rs1128503087,550,285
rs11983225087,532,204
rs1202184087,584,585
rs1202186087,583,942
rs12720067087,540,040
rs17327442087,583,674
rs20325821.587,531,302
rs2032583087,531,245
rs2091766087,545,188
rs2157926087,641,184
rs2188524087,601,119
rs2214102087,600,185
rs2229107087,509,343
rs2229109087,550,493
rs2235015087,570,248
rs2235035087,549,770
rs22350401.187,536,434
rs2235046087,544,750
rs2235067087,520,606
rs28364274087,504,335
rs2837309387,714,707
rs2840178187,519,012
rs2874650487,602,095
rs3213619087,600,877
rs34976462087,600,893
rs35023033087,544,882
rs35730308087,509,442
rs35810889087,585,532
rs3789243087,591,570
rs3842087,504,050
rs4148737087,541,836
rs4148738087,533,733
rs4148739187,531,733
rs4148740087,522,787
rs4728702087,551,362
rs72552784087,516,598
rs7779562087,515,500
rs7787082087,527,735
rs9282564087,600,124
rs956825087,562,959

Many polymorphisms have been reported for this gene, also known as MDR1.

ABCB1, also called CD243, codes for a cell membrane protein, P-glycoprotein(permeability glycoprotein, abbreviated as P-gp), that transports chemicals out of cells. It is expressed in various tissues, including the blood–brain barrier. Two SNPs are discussed frequently; note that they may be in linkage disequilibrium:

  • rs2032582, also known as G2677T, is mentioned by:
    • [PMID 17120199] The G2677T/A (T) variant in exon 21 is at a 2.6 fold higher risk of developing lung cancer. Another SNP, C3435T (in exon 26) may modulate the influence. (G2677 is also known as Ala893Thr.) The highest risk for lung cancer (up to 20 fold higher risk) is seen for 2677(T;T) plus heterozygous 3435(C;T) carriers.
  • rs1045642, also known as C3435T, is mentioned by:
    • [PMID 17185560] A "Silent" Polymorphism in the MDR1 Gene Changes Substrate Specificity.
    • [PMID 17190370] (R)-lansoprazole (Prevacid) concentrations are significantly increased in CYP2C19 extensive metabolizers with ABCB1 C3435T C allele.
    • [PMID 15536457] In a Korean population, plasma concentrations of fexofenadine (Allegra) were 17% lower in 2677AA/3435CC subjects and 47% higher in the 2677TT/3435TT subjects compared to 2677GG/3435CC subjects.
    • [PMID 11994059] In contrast, in this study no association was observed between the C3435T polymorphism and fexofenadine plasma or urine concentrations in a German Caucasian population.


A general article on MDR1 SNPs is: