UCSF Pharmacogenetics of Membrane Transporters
Gene View

You are in: PMT » Data Access » Transporter List » ABCG2

Common Name:MXR
HGNC Symbol:ABCG2
HGNC Description:ATP-binding cassette, sub-family G (WHITE), member 2
HGNC ID:74
Chromosome:Chr.4(-): 89230440-89299035
Location:4q22
OMIM:603756
OMIM Phenotype:None
Accessions:AF103796
Nucleotide RefSeq:NM_004827
Protein RefSeq:NP_004818
Entrez:9429
Isoforms:1
Evidence:Substrate In Vitro Evidence: 1. Wild-type MXR, two mutant variants found in drug-selected tumor cells (R482 G and R482T), and a catalytic center mutant (K86M) were expressed in Sf9 insect cells. The K86M was not functional. Wild-type and the R482 mutants transported mitoxantrone and Hoechst 33342; only the R482 mutants transported Rho123. MXR-specific transport was inhibited by fumitremorgin C. Ozvegy, C et al. JBC 2002 Dec 13, 277(50):47980-90 PMID 12374800. 2. Wild-type MXR and the R482T mutant were introduced to MCF7 cells. Both transfectants showed strong resistance to indolocarbazoles. The indolocarbazole compound A was transported by membrane vesicles. This transport was inhibited by another indocarbazole compound, but not by mitoxantrone. Nakagawa, R et al. Biochem Biophys Res Comm 2002 Dec 13, 299(4):669-75 PMID 12459192. 3. SN-38-selected PC-6/SN2-5H human lung carcinoma cells overexpress MXR. Membrane vesicles from these cells transported SN-38 and SN-38-glucuronide. Nakatoni, K et al. Biochem Biophys Res Comm 2001 Nov 9, 288(4):827-32 PMID 11688982. 4. When overexpressed in cell lines, MXR confers high levels of resistance to anthracyclines, mitoxantrone, bisantrene, and the camptothecins topotecan and SN-38. Ejendal, KR; Hrycyna, CA. Curr Prot Pept Sci 2002 Oct, 3(5):503-11 PMID 12369998. Substrate In Vivo Evidence: 1. MXR may play a role in MDR in acute myeloid leukemia. Ejendal, KR; Hrycyna, CA. Curr Prot Pept Sci 2002 Oct, 3(5):503-11 PMID 12369998. Tissue Distribution Evidence: 1. IHC demonstrated MXR expression at the blood-brain barrier (the luminal surface of microvessel endothelium). Cooray, HC et al. Neuroreport 2002 Nov 15, 13(16):2059-63 PMID 12438926. 2. RT-PCR showed that MXR expression varied widely in breast cancer cell lines and in primary breast carcinomas. There was no indication that elevated MXR expression in breast carcinomas confers resistance to anthracyclines. Faneyte, IF et al. Clin Cancer Res 2002 Apr, 8(4):1068-74 PMI 11948115. 3. MXR is abundantly expressed in placenta, liver, intestine, and stem cells. Ejendal, KR; Hrycyna, CA. Curr Prot Pept Sci 2002 Oct, 3(5):503-11 PMID 12369998.
Tissues:blood-brain barrier, placenta, liver, intestine, stem cells
Type:protein coding
Sets:II,IV
PharmGKB ID:PA390
HPRD ID:04783
Substrates:antrancyclines, mitoxantrone, bisantrene, topotecan, SN-38
Trivial Names:MRX, MXR, ABCP, BCRP, BMDP, MXR1, ABC15, BCRP1, CD338, CDw338, EST157481, MGC102821
Transcripts:NM_004827 [Chr.4(-): 89230440-89299035]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCG2 Resequencing
[Your browser is not displaying the SVG image of experimental data in gene context.]
Study Name:ABCG2 Resequencing
Experiments:
SNP impact: P - Public  D - Discovered  E - Exclusive  (dbSNP build 130)
SNP array availability: I - found on Illumina Human1M-Duo BeadChip  A - found on Affymetrix Genome-Wide SNP Array 6.0  
FeaturePMT SNP IDdbSNP/ PubMedSNP Array AvailabilityGenomic PositionTranscript PositionCoding PositionNucleotide ChangeStrand, '+' or '-'Amino Acid PositionAmino Acid ChangeStatisticsAA FreqCA FreqAS FreqME FreqPA FreqSample Set
 
3110
PDE
rs59172759
 89299519-484-19348
GGCGCAAGCATCCACTTTCTCAGAA T → A CCCATTCACCAGAAACCACCCATTT
- 
 
n=
T/T=
T/A=
A/A=
A=
120
55
5
0
0.042
92
46
0
0
0.000
130
65
0
0
0.000
116
58
0
0
0.000
n/a
0.000
PMT-272
 
3111
PDE
rs59370292
 89299518-483-19347
GCGCAAGCATCCACTTTCTCAGAAT C → T CCATTCACCAGAAACCACCCATTTA
- 
 
n=
C/C=
C/T=
T/T=
T=
120
60
0
0
0.000
92
46
0
0
0.000
130
64
1
0
0.008
116
58
0
0
0.000
n/a
0.000
PMT-272
 
3112
PDE
rs58132660
 89299459-424-19288
TGGGTGCGAGCAGCGCTTGTGACTG G → A GCAACCTGTGCGTCAGCGTCCCCGG
- 
 
n=
G/G=
G/A=
A/A=
A=
120
60
0
0
0.000
92
46
0
0
0.000
130
65
0
0
0.000
116
57
1
0
0.009
n/a
0.000
PMT-272
 
3113
PDE
rs45604438
 89299425-390-19254
TGCGTCAGCGTCCCCGGTGCTTCGG C → A GCTCCGGCCAGTGACGGCGACCAAA
- 
 
n=
C/C=
C/A=
A/A=
A=
120
51
9
0
0.075
92
46
0
0
0.000
130
65
0
0
0.000
116
56
2
0
0.017
n/a
0.000
PMT-272
 
3114
PDE
rs2231134
I89299375-340-19204
ACCCAGCTAGGTCAGACGAGGTACT G → C ATCAGCCCAATGAGCGCCTGGTGAT
- 
 
n=
G/G=
G/C=
C/C=
C=
120
57
3
0
0.025
92
40
6
0
0.065
130
65
0
0
0.000
116
52
5
1
0.060
n/a
0.000
PMT-272
 
3115
PDE
rs57327643
 89299301-266-19130
CATTCCGTTCGATCCCGGAGGCGGG ATTTGTG → - GGCTTGTCCCTGCGTGTCA
- 
 
n=
ATTTGTG/ATTTGTG=
ATTTGTG/-=
-/-=
-=
130
60
5
0
0.038
96
45
2
1
0.042
130
65
0
0
0.000
128
58
6
0
0.047
n/a
0.000
PMT-272
Promoter
3116
PDE
rs61535534
 89299186-151-19015
CAGGACACGTGTGCGCTTTCAGCCG G → C GTCGCAGGGCGCTTATCGCGGCCCG
- 
 
n=
G/G=
G/C=
C/C=
C=
130
65
0
0
0.000
96
48
0
0
0.000
130
65
0
0
0.000
128
63
1
0
0.008
n/a
0.000
PMT-272
Promoter
3117
PDE
rs61181041
 89299119-84-18948
CTCACCCCCGCCCGCGAACCCCGAC C → T TGGGGAAACCCGGGGCGCTGGGGAG
- 
 
n=
C/C=
C/T=
T/T=
T=
130
65
0
0
0.000
96
48
0
0
0.000
130
64
1
0
0.008
128
64
0
0
0.000
n/a
0.000
PMT-272
Exon: 5UTR
Promoter
3118
PDE
rs2231135
 8929901818-18847
AAGTTCGTGTCAGCGCTGCCTGAGC T → C CGTCCCCTGGATGTCCGGGTCTCCC
- 
 
n=
T/T=
T/C=
C/C=
C=
130
61
4
0
0.031
96
45
2
1
0.042
130
65
0
0
0.000
128
58
6
0
0.047
n/a
0.000
PMT-272
Exon: 5UTR
3119
PDE
rs61225678
 8929896472-18793
GCGGCCACCCGCCGGCTCCCATCGT G → A ACCTCCAGCCGCAGCGCCTCCCACG
- 
 
n=
G/G=
G/A=
A/A=
A=
130
65
0
0
0.000
96
48
0
0
0.000
130
64
1
0
0.008
128
64
0
0
0.000
n/a
0.000
PMT-272
Exon: Coding
4619
PDE
rs2231137
17 pubs		I8928013852734
CAGTAATGTCGAAGTTTTTATCCCA G → A TGTCACAAGGAAACACCAATGGCTT
-12
Val → Met
n=
G/G=
G/A=
A/A=
A=
156
66
12
0
0.077
152
66
10
0
0.066
114
28
27
2
0.272
94
35
10
2
0.149
2
1
0
0
0.000
Set-II
 
4620
PDE
rs4148152
IA89279933  
GAACTTGTAAAAAGACAGCTTTTTA A → G TTTACCTACAGTGAACCTCACAGGT
- 
 
n=
A/A=
A/G=
G/G=
G=
156
70
8
0
0.051
152
66
10
0
0.066
114
28
27
2
0.272
94
35
9
3
0.160
2
1
0
0
0.000
Set-II
 
4621
PDE
rs34124189
 89272814  
GTAAATCAGTCTGTTTTTGTGTTTA C → T AGTGGGATCATGAAACCTGGTCTCA
- 
 
n=
C/C=
C/T=
T/T=
T=
160
76
4
0
0.025
160
80
0
0
0.000
118
59
0
0
0.000
100
50
0
0
0.000
8
4
0
0
0.000
Set-II
 
4622
PDE
rs2231138
1 pub		I89272742  
GTGGAGGCAAATCTTCGTGAGTATA A → G GAGAGTATAAGTAAGCGTTTTCTGT
- 
 
n=
A/A=
A/G=
G/G=
G=
160
71
9
0
0.056
160
72
8
0
0.050
118
49
10
0
0.085
100
37
12
1
0.140
8
4
0
0
0.000
Set-II
Exon: Coding
4623
PDE
rs2231139
1 pub		IA89271988862369
CCAATTTCAAATGTAATTCAGGTTA C → T GTGGTACAAGTAAGTATTAGTGGGT
-123
Tyr = Tyr
n=
C/C=
C/T=
T/T=
T=
158
66
13
0
0.082
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
4624
PDE
rs2231142
49 pubs		I89271347914421
CACTCTGACGGTGAGAGAAAACTTA C → A AGTTCTCAGCAGCTCTTCGGCTTGC
-141
Gln → Lys
n=
C/C=
C/A=
A/A=
A=
160
78
2
0
0.013
160
67
13
0
0.081
120
21
29
10
0.408
100
28
18
4
0.260
12
5
0
1
0.167
Set-II
 
4625
PDE
rs2231144
1 pub		 89261984  
ACTGGTTGTTATCATTGACAATTAT A → G ATATTTGTGATTTAGGTTGGAACTC
- 
 
n=
A/A=
A/G=
G/G=
G=
160
37
37
6
0.306
160
76
4
0
0.025
120
58
2
0
0.017
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
Exon: Coding
4626
PDE
rs12721643
4 pubs		I892618841109616
AATGGAGCTTATCACTGATCCTTCC A → C TCTTGTTCTTGGATGAGCCTACAAC
-206
Ile → Leu
n=
A/A=
A/C=
C/C=
C=
160
80
0
0
0.000
160
79
1
0
0.006
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
4627
PDE
rs34678167
2 pubs		 892583211298805
CTCAGGAAGACTTATGTTCCACGGG C → T CTGCTCAGGAGGCCTTGGGATACTT
-269
Pro → Ser
n=
C/C=
C/T=
T/T=
T=
160
80
0
0
0.000
160
80
0
0
0.000
120
59
1
0
0.008
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
4628
PDE
rs2231147
1 pub		I89258267  
ATCAGCTGGTATGGTTGACTTTTTT A → G TGCTGTAAAATGCTTCATTAATAGA
- 
 
n=
A/A=
A/G=
G/G=
G=
160
51
28
1
0.188
160
79
1
0
0.006
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
4629
PDE
rs34347380
 89255262  
CTTTGTTTTCCAAGACCATCAAGTT T → C GTGTTTTTGAGCTGCCTTCTTTCAT
- 
 
n=
T/T=
T/C=
C/C=
C=
160
80
0
0
0.000
160
80
0
0
0.000
118
59
0
0
0.000
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
Exon: Coding
4630
PDE
rs34881799
 892536741492999
ATAAGCCACTCATAGAAAAATTAGC G → A GAGATTTATGTCAACTCCTCCTTCT
-333
Ala = Ala
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
80
0
0
0.000
120
60
0
0
0.000
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
Exon: Coding
4631
PDE
rs35622453
1 pub		 8925357515911098
AGAAGAAGATCACAGTCTTCAAGGA G → A ATCAGCTACACCACCTCCTTCTGTC
-366
Glu = Glu
n=
G/G=
G/A=
A/A=
A=
160
80
0
0
0.000
160
80
0
0
0.000
120
59
1
0
0.008
100
42
7
1
0.090
12
6
0
0
0.000
Set-II
 
4632
PDE
rs2231148
2 pubs		I89247502  
TATATTATACTAATAAATGGTGTGT A → T TAAGTTTTTATCTCTAATTGAAACT
- 
 
n=
A/A=
A/T=
T/T=
T=
158
66
12
1
0.089
158
34
33
12
0.361
118
33
21
5
0.263
100
35
12
3
0.180
12
5
1
0
0.083
Set-II
 
4633
PDE
rs34485575
 89247463  
CTAATTGAAACTCTTCCCCTTTTTT T → - GCATTTTTCTTTTTGAAAAGATCAT
- 
 
n=
T/T=
T/-=
-/-=
-=
158
79
0
0
0.000
158
79
0
0
0.000
118
59
0
0
0.000
100
50
0
0
0.000
12
5
1
0
0.083
Set-II
 
4634
PDE
rs2231149
 89247308  
AGAAAATGCTGTTACTTTCTTCAAG C → T TTATTGAAATCCATTAAGAATTTGA
- 
 
n=
C/C=
C/T=
T/T=
T=
158
79
0
0
0.000
158
79
0
0
0.000
118
56
3
0
0.025
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
4635
PDE
rs2231150
1 pub		I89247293  
TTTCTTCAAGCTTATTGAAATCCAT T → G AAGAATTTGAATTTAAGACAAGTAT
- 
 
n=
T/T=
T/G=
G/G=
G=
158
78
1
0
0.006
158
79
0
0
0.000
118
59
0
0
0.000
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
 
4636
PDE
rs35518113
 89247260  
TGAATTTAAGACAAGTATAGTGTAA A → C TGTCATTCTTTTATTGAGGGTAGGA
- 
 
n=
A/A=
A/C=
C/C=
C=
158
78
1
0
0.006
158
76
3
0
0.019
118
59
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
4637
PDE
rs2231151
1 pub		I89247248  
AAGTATAGTGTAAATGTCATTCTTT T → C ATTGAGGGTAGGATGAGTCAGTTTA
- 
 
n=
T/T=
T/C=
C/C=
C=
158
75
4
0
0.025
158
79
0
0
0.000
118
59
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
4638
PDE
rs34402665
 89247180  
TGCTCTGTTGCCCAGGCTGGAGTGC A → G GTGACGCGATCTCAGCTCACTGCAA
- 
 
n=
A/A=
A/G=
G/G=
G=
158
79
0
0
0.000
158
78
1
0
0.006
118
59
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
4639
PDE
rs2231152
 89241524  
CTGTCTAAGAATGCTGAGTTGACTG C → T GGTGATTTGGTTCCCCTTTTCATGG
- 
 
n=
C/C=
C/T=
T/T=
T=
160
78
2
0
0.013
160
80
0
0
0.000
118
59
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
4640
PDE
rs45460598
 89241391  
AAGCTCTTCATGTGAGTAGGTCTTT G → T TTCTAGGAACGGGGCTGTCCAGCAG
- 
 
n=
G/G=
G/T=
T/T=
T=
160
75
5
0
0.031
160
80
0
0
0.000
118
59
0
0
0.000
100
49
1
0
0.010
12
6
0
0
0.000
Set-II
 
4641
PDE
rs2231153
1 pub		I89241386  
CTTCATGTGAGTAGGTCTTTGTTCT A → G GGAACGGGGCTGTCCAGCAGCAGGG
- 
 
n=
A/A=
A/G=
G/G=
G=
160
10
25
45
0.719
160
70
9
1
0.069
118
34
23
2
0.229
100
36
11
3
0.170
12
3
2
1
0.333
Set-II
 
4642
PDE
rs2231155
2 pubs		 89239462  
CAAAACAAAAAAGGACATGTCTTTA G → A TCTTGCCTATGGGTGAAGTCAGTTG
- 
 
n=
G/G=
G/A=
A/A=
A=
156
57
18
3
0.154
160
77
3
0
0.019
116
58
0
0
0.000
100
48
2
0
0.020
12
6
0
0
0.000
Set-II
Exon: Coding
4643
PDE
rs34156107
 8923766221071614
GTCAGAGTGTGGTTTCTGTAGCAAC A → G CTTCTCATGACCATCTGTTTTGTGT
-538
Thr = Thr
n=
A/A=
A/G=
G/G=
G=
160
80
0
0
0.000
160
80
0
0
0.000
120
59
1
0
0.008
100
50
0
0
0.000
10
5
0
0
0.000
Set-II
Exon: Coding
4644
PDE
rs35965584
1 pub		 8923765221171624
GGTTTCTGTAGCAACACTTCTCATG A → G CCATCTGTTTTGTGTTTATGATGGT
-542
Thr → Ala
n=
A/A=
A/G=
G/G=
G=
160
77
3
0
0.019
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
10
5
0
0
0.000
Set-II
 
4645
PDE
rs2231157
1 pub		I89237589  
TGTTTGCTCTGATAAGGAATTGTTT T → C TTTCCTTCATTTCTTCCTGCACATT
- 
 
n=
T/T=
T/C=
C/C=
C=
160
61
16
3
0.138
160
31
34
15
0.400
120
34
24
2
0.233
100
23
20
7
0.340
10
2
2
1
0.400
Set-II
 
4646
PDE
rs34262876
 89237564  
TTTTCCTTCATTTCTTCCTGCACAT T → G CACTTGTCATGTAAAACCTGTTTTG
- 
 
n=
T/T=
T/G=
G/G=
G=
158
79
0
0
0.000
160
80
0
0
0.000
120
59
1
0
0.008
100
50
0
0
0.000
10
5
0
0
0.000
Set-II
 
4647
PDE
rs2231162
I89235806  
TGAAATTACTCAAGCAGGCCTGACT T → C TTAGTATTTGCTTTTTGTAGATTTT
- 
 
n=
T/T=
T/C=
C/C=
C=
160
17
35
28
0.569
160
0
8
72
0.950
120
2
24
34
0.767
100
2
12
36
0.840
12
1
2
3
0.667
Set-II
 
4648
PDE
rs34245094
 89235647  
GTGACTGCATTCCCAAGCTAGGAAC A → G ATGGAAATCAAGTGTCCTCATCTCA
- 
 
n=
A/A=
A/G=
G/G=
G=
160
79
1
0
0.006
160
80
0
0
0.000
120
60
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
 
4649
PDE
rs2231164
I89234881  
TGTGATAACTCTTTGGAAACTTCTT G → A AAATTTAAAACTGTTTACCTTGCCC
- 
 
n=
G/G=
G/A=
A/A=
A=
160
44
27
9
0.281
160
2
22
56
0.838
120
16
32
12
0.467
100
11
16
23
0.620
10
1
2
2
0.600
Set-II
 
4650
PDE
rs34063838
 89232620  
TAGGCTCCTTTAAGGAACAGTGGAT A → G TACTGAGTAACATTTGACGGATGCT
- 
 
n=
A/A=
A/G=
G/G=
G=
158
79
0
0
0.000
158
79
0
0
0.000
118
58
1
0
0.008
100
50
0
0
0.000
12
6
0
0
0.000
Set-II
Exon: Coding
4651
PDE
rs34783571
4 pubs		 8923252023511858
AGAATATTTGGTAAAGCAGGGCATC G → A ATCTCTCACCCTGGGGCTTGTGGAA
-620
Asp → Asn
n=
G/G=
G/A=
A/A=
A=
158
78
1
0
0.006
158
78
1
0
0.006
118
59
0
0
0.000
100
50
0
0
0.000
12
6
0
0
0.000
Set-II

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.
Copyright 2009, UCSF Pharmacogenetics of Membrane Transporters. All rights reserved.