General Information of Drug Transporter (DT)
DT ID	DTD0040 Transporter Info
Gene Name	ABCA2
Protein Name	ATP-binding cassette sub-family A member 2
Gene ID	20
UniProt ID	Q9BZC7
Genetic Polymorphisms of DT (GPD)
Genetic Polymorphism	rs241453
Site of GPD	chr6:32828449 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	G>A
Minor Allele Frequency	A=0.2290/849 (Global)
Allele G	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Anti-Ro/SSA production	N.A.	Systemic Lupus Erythematosus	Correlated with the predisposition to systemic lupus erythematosus (compare with allele A)		[ 1]
Genetic Polymorphism	rs2271862
Site of GPD	chr9:137011907 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	G>A / G>C / G>T
Minor Allele Frequency	G=0.3150/623 (Global)
Genotype AA	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Xelox	N.A.	Neutropenia	Genotype AA is associated with decreased likelihood of Neutropenia when treated with XELOX in people with Colorectal Neoplasms and Neoplasm Metastasis as compared to genotypes AG + GG.		[ 2]
Allele G	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Fluorouracil	N.A.	Neutropenia	Allele G is associated with increased clearance of fluorouracil in people with Colorectal Neoplasms as compared to allele A.		[ 3]
References
1	Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC. Genes Immun. 2009 Jun;10(4):350-5.
2	A polymorphism in ABCA2 is associated with neutropenia induced by capecitabine in Japanese patients with colorectal cancer. Cancer Chemother Pharmacol. 2023 Dec;92(6):465-474.
3	Evaluation of ABC gene polymorphisms on the pharmacokinetics and pharmacodynamics of capecitabine in colorectal patients: Implications for dosing recommendations. Br J Clin Pharmacol. 2021 Mar;87(3):905-915.

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