UCSF Pharmacogenetics of Membrane Transporters
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Common Name:MDR3
HGNC Symbol:ABCB4
HGNC Description:ATP-binding cassette, sub-family B (MDR/TAP), member 4
HGNC ID:45
Chromosome:Chr.7(-): 86869297-86942955
Location:7q21.1
OMIM:171060
OMIM Phenotype:Cholestasis, familial intrahepatic, of pregnancy; Cholestasis, progressive familial intrahepatic, type III; Cholelithiasis
Accessions:M23234, Z35284
Nucleotide RefSeq:NM_000443
Protein RefSeq:NP_000434
Entrez:5244
Isoforms:3
Evidence:Substrate In Vitro Evidence: Phosphatidylcholine (PC) 1. PC-tp transfer to liposomes. A.J. Smith, et al. FEBS Lett. 1994; 354: 263-266. 2. Polarized LLC-PK1 transfected with MDR3. A. van Helvoort, et al. Cell. 1996; 87: 507-517. Digoxin - Polarized LLC-PK1 transfected with MDR3. A.J. Smith, et al. JBC. 2000; 275: 23530-39. Vinblastine - Polarized LLC-PK1 transfected with MDR3. A.J. Smith, et al. JBC. 2000; 275: 23530-39. Paclitaxel - Polarized LLC-PK1 transfected with MDR3. A.J. Smith, et al. JBC. 2000; 275: 23530-39. Aureobasidin A - Yeast expression. Kino K, et al. FEBS Lett. 1996; 399: 29-32. Substrate In Vivo Evidence: Phosphatidylcholine 1. Progressive familial intrahepatic cholestasis (PFIC) in humans. J.M.L. De Vree, et al. PNAS. 1998; 95: 282-287. 2. mdr2 K.O. mouse. J.J.M. Smit, et al. Cell. 1993; 75: 451-462. Tissue Distribution Evidence: Liver 1. Western Blot. J.J.M. Smit, et al. Lab. Invest. 1994; 71: 638-649. 2. TaqMan RT-PCR. Langmann T. Clinical Chemistry. 2003; 49: 230-8. Adrenal Gland and Spleen 1. TaqMan RT-PCR. Langmann T. Clinical Chemistry. 2003; 49: 230-8.
Tissues:Liver, Adrenal Gland, Spleen
Type:protein coding
Sets:I,V
PharmGKB ID:PA268
HPRD ID:01371
Substrates:Phosphatidylcholine, Digoxin, Vinblastine, Paclitaxel, Aureobasidin A
Trivial Names:GBD1, MDR2, MDR3, PGY3, ABC21, MDR2/3, PFIC-3
Transcripts:NM_000443 [Chr.7(-): 86869297-86942955]
NM_018849 [Chr.7(-): 86869297-86942955]
NM_018850 [Chr.7(-): 86869297-86942955]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCB4 Resequencing
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Study Name:ABCB4 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
 
4905
PDE
rs2071645
 86943212-257-495
GGTCGCAGGATAAGACCGAGATCAG C → G CTGGAGCCTCGGGTGCCGAGAAAGC
+ 
 
n=
C/C=
C/G=
G/G=
G=
132
36
20
10
0.303
122
14
13
34
0.664
132
13
15
38
0.689
126
12
12
39
0.714
n/a
0.000
PMT-272
Promoter
4904
PDE
rs55679062
 86943131-176-414
AGGGGCGCAGCCTGCCGCTCTTGCC G → A CCGGGGCGCCCGGCTGGGGCCGCCG
+ 
 
n=
G/G=
G/A=
A/A=
A=
132
35
24
7
0.288
120
55
1
4
0.075
132
56
2
8
0.136
126
57
3
3
0.071
n/a
0.000
PMT-272
Promoter
4903
PDE
rs55976025
 86943112-157-395
CCCAGGCTAGGCGCGGGCCAGGGGC G → C CAGCCTGCCGCTCTTGCCGCCGGGG
+ 
 
n=
G/G=
G/C=
C/C=
C=
132
18
25
23
0.538
120
48
4
8
0.167
130
53
4
8
0.154
126
54
5
4
0.103
n/a
0.000
PMT-272
Promoter
4902
PDE
rs2071646
 86943095-140-378
GCCCGCCCAGCTCTCTCCCCAGGCT A → G GGCGCGGGCCAGGGGCGCAGCCTGC
+ 
 
n=
A/A=
A/G=
G/G=
G=
132
59
7
0
0.053
118
47
9
3
0.127
130
43
14
8
0.231
126
39
19
5
0.230
n/a
0.000
PMT-272
Promoter
4901
PDE
rs72559420
 86943023-68-306
CGCGTCCGGCCCGGGAAACGCCTAC C → A GTTGCAGCCAGGGCGAGGGCCGCGG
+ 
 
n=
C/C=
C/A=
A/A=
A=
132
66
0
0
0.000
114
57
0
0
0.000
130
62
1
2
0.038
124
62
0
0
0.000
n/a
0.000
PMT-272
 
3714
PDE
rs8187785
 86942727 -10
TTGGTTCTGAGGCTGTGGTTTCTCC T → C CAGGCTGAGATGGATCTTGAGGCGG
- 
 
n=
T/T=
T/C=
C/C=
C=
188
83
11
0
0.059
194
97
0
0
0.000
56
28
0
0
0.000
16
8
0
0
0.000
12
6
0
0
0.000
Set-I
 
3715
PDE
rs45552835
 86939943  
TTTGTAACAGTTTTAAATTGAAGCA A → G TTCTATTTTTTACAGCAAACAAAAA
- 
 
n=
A/A=
A/G=
G/G=
G=
186
89
4
0
0.022
186
93
0
0
0.000
60
30
0
0
0.000
14
7
0
0
0.000
10
5
0
0
0.000
Set-I
Exon: Coding
3716
PDE
rs8187789
I86930149223147
TTTCCTTTTTTTAGTTTCGATACTC C → T GATTGGCAGGATAAATTGTTTATGT
-49
Ser = Ser
n=
C/C=
C/T=
T/T=
T=
200
91
9
0
0.045
198
98
1
0
0.005
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
Exon: Coding
3717
PDE
rs2302387
1 pub		I86930121251175
TTGGCAGGATAAATTGTTTATGTCG C → T TGGGTACCATCATGGCCATAGCTCA
-59
Leu = Leu
n=
C/C=
C/T=
T/T=
T=
200
32
52
16
0.420
198
72
26
1
0.141
60
27
3
0
0.050
20
8
2
0
0.100
14
0
4
3
0.714
Set-I
Exon: Coding
3718
PDE
rs8187788
I86930079293217
CATAGCTCACGGATCAGGTCTCCCC C → G TCATGATGATAGTATTTGGAGAGAT
-73
Leu → Val
n=
C/C=
C/G=
G/G=
G=
200
100
0
0
0.000
198
98
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3719
PDE
rs8187787
I86930056316240
CCCTCATGATGATAGTATTTGGAGA G → A ATGACTGACAAATTTGTTGATACTG
-80
Glu = Glu
n=
G/G=
G/A=
A/A=
A=
200
100
0
0
0.000
198
98
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3720
PDE
rs1202283
1 pub		IA86920228580504
AGGAAATAGGATGGTTTGACATCAA C → T GACACCACTGAACTCAATACGCGGC
-168
Asn = Asn
n=
C/C=
C/T=
T/T=
T=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
0
1
0.033
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3721
PDE
rs8187790
 86920185  
TACGCGGCTAACAGAGTAGGTACAT T → C GTTAATGTCACACTTTCATATAGAA
- 
 
n=
T/T=
T/C=
C/C=
C=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3722
PDE
rs8187791
I86918887772696
GCCCTATTCTAGGACTCTCTGCAGC C → T GTTTGGGCAAAGGTATGTGAAAGCT
-232
Ala = Ala
n=
C/C=
C/T=
T/T=
T=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3743
PDE
rs2109505
1 pub		 86917342787711
ATCACTGTTTCTTTTCTGTCCAGAT A → T CTCTCGGCATTTAGTGACAAAGAAC
-237
Ile = Ile
n=
A/A=
A/T=
T/T=
T=
200
48
50
2
0.270
200
66
31
3
0.185
58
21
8
0
0.138
20
8
2
0
0.100
14
0
4
3
0.714
Set-I
Exon: Coding
3744
PDE
rs45596335
 86917341788712
TCACTGTTTCTTTTCTGTCCAGATA C → G TCTCGGCATTTAGTGACAAAGAACT
-238
Leu → Val
n=
C/C=
C/G=
G/G=
G=
200
97
3
0
0.015
200
100
0
0
0.000
58
29
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3723
PDE
rs45624933
 8691061313901314
GTAGTGGCTGTGGGAAGAGCACAAC G → A GTCCAGCTGATACAGAGGCTCTATG
-438
Thr = Thr
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3724
PDE
rs45505699
I86910545  
GTAAGTGGGAAGAACCAAGCTTTCC A → G GAGTGGGAAGCTGGATACAAATTGG
- 
 
n=
A/A=
A/G=
G/G=
G=
200
93
7
0
0.035
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3725
PDE
rs8187793
 86910536  
AAGAACCAAGCTTTCCAGAGTGGGA A → G GCTGGATACAAATTGGCCCTTTGAA
- 
 
n=
A/A=
A/G=
G/G=
G=
200
99
1
0
0.005
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3726
PDE
rs31675
IA86907694  
AATGGTCCTGATACTTCAGCTATTA A → G ATGGTTAAATACTTAATAGGAAATA
- 
 
n=
A/A=
A/G=
G/G=
G=
192
0
9
87
0.953
184
0
17
75
0.908
60
2
10
18
0.767
20
0
1
9
0.950
14
4
3
0
0.214
Set-I
 
3727
PDE
rs45545435
I86907416  
CTGATAAAGTAGTTGTCCTTGAAAT T → C AGAATTTCACCTCATAGGACTGAGT
- 
 
n=
T/T=
T/C=
C/C=
C=
192
94
2
0
0.010
192
96
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3728
PDE
rs8187797
2 pubs		 8690706616601584
AGAAATTTGACACCCTGGTTGGAGA G → C AGAGGGGCCCAGCTGAGTGGTGGGC
-528
Glu → Asp
n=
G/G=
G/C=
C/C=
C=
200
93
6
1
0.040
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3729
PDE
rs8187798
I86898650  
TCAAACTTGTCAACATGCAGGTACT T → C GCTTTTCAGGAATTTTTTCTGCTAT
- 
 
n=
T/T=
T/C=
C/C=
C=
200
100
0
0
0.000
200
98
2
0
0.010
58
29
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3730
PDE
rs45476795
I8689411420281952
GAACTAAATGATGAAAAGGCTGCCA C → A TAGAATGGCCCCAAATGGCTGGAAA
-651
Thr → Asn
n=
C/C=
C/A=
A/A=
A=
200
100
0
0
0.000
198
99
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3731
PDE
rs2230028
3 pubs		I8689411220301954
ACTAAATGATGAAAAGGCTGCCACT A → G GAATGGCCCCAAATGGCTGGAAATC
-652
Arg → Gly
n=
A/A=
A/G=
G/G=
G=
200
42
49
9
0.335
198
80
19
0
0.096
60
28
2
0
0.033
20
8
1
1
0.150
14
7
0
0
0.000
Set-I
 
3732
PDE
rs31668
I86891142  
GATCATAGCGGTAAGTTTGCAAACA C → T CACATAACAGCCTGAATTAGATCAA
- 
 
n=
C/C=
C/T=
T/T=
T=
196
2
9
87
0.934
196
0
16
82
0.918
54
2
9
16
0.759
20
0
1
9
0.950
14
4
3
0
0.214
Set-I
Exon: Coding
3733
PDE
rs8187802
 8688731924012325
CCTTTTTTCTCAACCAGGGTTTCAC G → C TTTGGGAAAGCTGGCGAGATCCTCA
-775
Thr = Thr
n=
G/G=
G/C=
C/C=
C=
200
93
7
0
0.035
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3734
PDE
rs8187801
I8688728124392363
GGCGAGATCCTCACCAGAAGACTGC G → A GTCAATGGCTTTTAAAGCAATGCTA
-788
Arg → Gln
n=
G/G=
G/A=
A/A=
A=
200
86
11
3
0.085
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3735
PDE
rs8187804
 86885927  
TGGAGCTTTGGGAGGCTTTGTCTGG T → G TTTCTTTGCTTGTTTTAATTTTGAA
- 
 
n=
T/T=
T/G=
G/G=
G=
194
96
1
0
0.005
198
99
0
0
0.000
36
18
0
0
0.000
16
8
0
0
0.000
8
4
0
0
0.000
Set-I
 
3736
PDE
rs8187803
 86885893  
CTTGTTTTAATTTTGAACTAACATA A → G ACGTGTATTTTATGCCATAGGACAT
- 
 
n=
A/A=
A/G=
G/G=
G=
194
95
2
0
0.010
198
99
0
0
0.000
36
18
0
0
0.000
16
8
0
0
0.000
8
4
0
0
0.000
Set-I
 
3737
PDE
rs7788404
I86885749  
CTCTACTTGTAGTTTTTTACATAAC A → G TGGTTTTAGATAAGCATGTAGCATA
- 
 
n=
A/A=
A/G=
G/G=
G=
198
63
34
2
0.192
196
79
19
0
0.097
32
14
2
0
0.062
10
4
1
0
0.100
6
3
0
0
0.000
Set-I
 
3738
PDE
rs8187805
 86879121  
CTGTAAGTAGCTTTAGAAATATTAA G → A ATTATTCTATAATAAGGTTTTAGTA
- 
 
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
198
99
0
0
0.000
56
28
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3739
PDE
rs45574932
 8687661730282952
TGTTTTCTGCAATTGTATTTGGTGC A → G GTGGCTCTAGGACATGCCAGTTCAT
-984
Ala = Ala
n=
A/A=
A/G=
G/G=
G=
200
97
3
0
0.015
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3740
PDE
rs8187808
I8687545731873111
AATTTGAAGGAAATATAACATTTAA T → C GAAGTCGTGTTCAACTATCCCACCC
-1037
Asn = Asn
n=
T/T=
T/C=
C/C=
C=
200
98
2
0
0.010
200
100
0
0
0.000
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
Exon: Coding
3741
PDE
rs8187807
 8687542432203144
TGTTCAACTATCCCACCCGAGCAAA C → T GTGCCAGTGCTTCAGGGGCTGAGCC
-1048
Asn = Asn
n=
C/C=
C/T=
T/T=
T=
200
100
0
0
0.000
200
100
0
0
0.000
60
29
1
0
0.017
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3742
PDE
rs8187809
 86873530  
CGAGACGTTACCCCACGTAAGTTAA A → - GAGTAGCTGAAATCAGAAGAGACTA
- 
 
n=
A/A=
A/-=
-/-=
-=
200
100
0
0
0.000
200
99
1
0
0.005
60
30
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3745
PDE
rs31653
1 pub		I86870549  
AACAGTTCATTCAACATATTTATAA T → C TTGGTTAACTTGCAGAAATATGAAA
- 
 
n=
T/T=
T/C=
C/C=
C=
200
1
7
92
0.955
200
0
23
77
0.885
58
1
10
18
0.793
20
1
1
8
0.850
14
5
1
1
0.214
Set-I
Exon: Coding
3746
PDE
rs8187811
I8687046736293553
AGGAGGTCAAAAACAGAGGATTGCT A → G TTGCCCGAGCCCTCATCAGACAACC
-1185
Ile → Val
n=
A/A=
A/G=
G/G=
G=
200
100
0
0
0.000
200
99
1
0
0.005
58
29
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3747
PDE
rs8187810
I86870341  
TATGTCTTATTTAATTTATGAAATA G → T AAGGGATTTTGCTGTCAACCATGAA
- 
 
n=
G/G=
G/T=
T/T=
T=
200
100
0
0
0.000
200
99
1
0
0.005
56
28
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I

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.
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