UCSF Pharmacogenetics of Membrane Transporters
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Common Name:BSEP
HGNC Symbol:ABCB11
HGNC Description:ATP-binding cassette, sub-family B (MDR/TAP), member 11
HGNC ID:42
Chromosome:Chr.2(-): 169487695-169596079
Location:2q24
OMIM:603201
OMIM Phenotype:Progressive intrahepatic cholestasis-2
Accessions:AF091582
Nucleotide RefSeq:NM_003742
Protein RefSeq:NP_003733
Entrez:8647
Isoforms:1
Evidence:Substrate In Vitro Evidence: 1. Transport assays using baculovirus-infected Sf9 cells demonstrated high affinity of BSEP for the bile salt taurochlorate (Km 4.25 uM). Inhibition constants for other bile salts were 11 uM for glycocholate, 7 uM for glycochenodeoxycholate, and 28 uM for taurochenodeoxycholate. Taurochlorate transport was competitively inhibited by CsA (Ki 0.5 uM), rifampicin (Ki 31 uM), and glibenclamide (Ki 27.5 uM). Byrne, JA et al. Gastroenterology 2002 Nov, 123(5):1649-58 PMID 12404239 2. Seven PFIC2-associated missense mutations were introduced into rat BSEP. Localization and transport function of the expressed protein were studied in MDCK and Sf9 cells. Five mutations altered protein trafficking. Three mutations abolished transport activity, perhaps due to protein misfolding. One mutation caused rapid (possibly proteasome-mediated) degradation of BSEP. Wang, L; Soroka, CJ; Boyer, JL. J Clin Invest 2002 Oct, 110(7):965-72 PMID 12370274 Substrate In Vivo Evidence: 1. Mutations in ABCB11 are responsible for progressive familial cholestasis (PFIC2), a cholestatic disorder causing severe liver disease in children. Genotype/phenotype studies in patients with polymorphic forms of ABCB11 are ongoing. Thompson, R; Strautnieks, S. Semin Liver Dis 2001 Nov, 21(4):545-50 PMID 11745042 (review) Tissue Distribution Evidence: 1. Northern blotting revealed dominant (if not exclusive) rat BSEP expression in the liver; in situ immunofluorescence studies demonstrated more specifically expression in the canalicular microvilli and subcanalicular vesicles of hepatocytes. Gerloff, T et al. JBC 1998 Apr 17, 273(16):10046-50 2. Northern blotting revealed exclusive expression of mouse BSEP in the liver. Green, RM; Hoda, F; Ward, KL. Gene 2000 Jan 4, 241(1):117-23 PMID 10607905
Tissues:liver
Type:protein coding
Sets:I,IV
PharmGKB ID:PA374
HPRD ID:04436
Substrates:bile salts
Trivial Names:BSEP, PGY4, SPGP, ABC16, PFIC2, PFIC-2
Transcripts:NM_003742 [Chr.2(-): 169487695-169596079]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCB11 RESEQUENCING
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Study Name:ABCB11 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
Promoter
2993
PDE
rs2241338
I169596214-135-13333
CCCTCAGAGGGTTTCCCAAGCACAC T → C CTGTGTTTGGGGTTATTGCTCTGAG
- 
 
n=
T/T=
T/C=
C/C=
C=
130
65
0
0
0.000
130
65
0
0
0.000
130
41
21
3
0.208
130
61
3
1
0.038
n/a
0.000
PMT-272
Exon: 5UTR
2994
PDE
rs56766143
 16959602159-13140
AAACCTTTTAACTCTCCACAGTGGA G → A TCCATTATTTCCTCTGGCTTCCTCA
- 
 
n=
G/G=
G/A=
A/A=
A=
130
65
0
0
0.000
130
65
0
0
0.000
130
65
0
0
0.000
130
64
1
0
0.008
n/a
0.000
PMT-272
 
3429
PDE
rs11568375
 169581572  
TATTATTAACTGCTTTTTTGCGTTG A → - TTTTTTTTTCTGACAGATAATAATG
- 
 
n=
A/A=
A/-=
-/-=
-=
200
94
6
0
0.030
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
 
3430
PDE
rs11568376
I169581482  
CATCTTTTCTAGAATAACTCCATAA T → C ATTCATATCAAAGGCACAAAGCAGA
- 
 
n=
T/T=
T/C=
C/C=
C=
194
97
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
 
3287
PDE
rs4148776
I169579128  
ATTGGAAAGGGTGGTCTTTAAATCC T → C TATGTTTTTCTCATCAGGTTACAAG
- 
 
n=
T/T=
T/C=
C/C=
C=
200
46
46
8
0.310
198
85
14
0
0.071
60
25
5
0
0.083
20
9
1
0
0.050
14
6
1
0
0.071
Set-I
Exon: Coding
3288
PDE
rs3815675
2 pubs		I169579101234108
ATGTTTTTCTCATCAGGTTACAAGA T → C GAGAAGAAAGGTGATGGCGTTAGAG
-36
Asp = Asp
n=
T/T=
T/C=
C/C=
C=
200
97
3
0
0.015
198
96
3
0
0.015
60
16
13
1
0.250
20
9
1
0
0.050
14
5
1
1
0.214
Set-I
Exon: Coding
3289
PDE
rs11568361
IA169578250293167
TTTTTCAAGTTTCGGTTTTCTTCAT C → T AACTGACATTTGGCTGATGTTTGTG
-56
Ser → Leu
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
3290
PDE
rs11568362
I169578243300174
AGTTTCGGTTTTCTTCATCAACTGA C → T ATTTGGCTGATGTTTGTGGGAAGTT
-58
Asp = Asp
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
3291
PDE
rs4148777
5 pubs		IA169578147396270
TTTTTGGCACAATGACAGATGTTTT T → C ATTGACTACGACGTTGAGTTACAAG
-90
Phe = Phe
n=
T/T=
T/C=
C/C=
C=
200
94
6
0
0.030
200
93
7
0
0.035
60
27
3
0
0.050
20
10
0
0
0.000
14
6
1
0
0.071
Set-I
 
3292
PDE
rs11568363
1 pub		 169578020  
AAATGGAACACGTTGTGGGTAGGTT G → A TTTTTGTTTTTAATTTTTTACTTTT
- 
 
n=
G/G=
G/A=
A/A=
A=
200
90
10
0
0.050
200
99
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
3293
PDE
rs11568377
1 pub		I169561466528402
CCCTCTTTTGAAGGTTGCTGAACAT C → T GAGAGCGAAATGATCAAATTTGCCA
-134
Ile = Ile
n=
C/C=
C/T=
T/T=
T=
200
95
3
2
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
 
3294
PDE
rs11568378
1 pub		I169561375  
ATATATTCAAGTTAGTAGCTCCTCC G → A TATAATTTATAGATCAATATCTGAC
- 
 
n=
G/G=
G/A=
A/A=
A=
200
95
3
2
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
3295
PDE
rs11568365
I169560131711585
TAGGGTGGTTTGACTGCAATTCAGT G → C GGGGAGCTGAATACAAGATTCTCTG
-195
Val = Val
n=
G/G=
G/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
3296
PDE
rs11568357
1 pub		I169558634742616
CAAAATCTTTCTGGTTTCTAGTGAT A → G TTAATAAAATCAATGATGCCATAGC
-206
Ile → Val
n=
A/A=
A/G=
G/G=
G=
200
96
3
1
0.025
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
3297
PDE
rs11568358
 169558554822696
TGACCTCGACCATCTGTGGTTTCCT G → T TTGGGATTTTTCAGGGGTTGGAAAC
-232
Leu = Leu
n=
G/G=
G/T=
T/T=
T=
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
Exon: Coding
3298
PDE
rs2287616
2 pubs		IA169555658933807
AGAGTGTGTCCAAGTTTACGGACTA T → C GAGCTGAAGGCCTATGCCAAAGCAG
-269
Tyr = Tyr
n=
T/T=
T/C=
C/C=
C=
200
96
4
0
0.020
200
99
1
0
0.005
60
17
12
1
0.233
20
9
1
0
0.050
14
5
1
1
0.214
Set-I
Exon: Coding
3299
PDE
rs11568372
13 pubs		I1695555751016890
AGAACAGTGGCTGCTTTTGGTGGTG A → G GAAAAGAGAGGTTGAAAGGTTGGTT
-297
Glu → Gly
n=
A/A=
A/G=
G/G=
G=
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
 
3300
PDE
rs7602204
1 pub		 169551057  
GCTGTTTCTGCCGAAATTGACTCAA G → A CATTTTGTCTTCACAGGTATGAGAA
- 
 
n=
G/G=
G/A=
A/A=
A=
200
53
36
11
0.290
200
100
0
0
0.000
50
25
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3301
PDE
rs2287618
2 pubs		I169551055  
TGTTTCTGCCGAAATTGACTCAAGC A → G TTTTGTCTTCACAGGTATGAGAAAA
- 
 
n=
A/A=
A/G=
G/G=
G=
200
3
29
68
0.825
200
8
42
50
0.710
50
0
5
20
0.900
20
2
6
2
0.500
14
0
0
7
1.000
Set-I
Exon: Coding
3302
PDE
rs7563233
6 pubs		IA1695509921083957
CCCAGCGTTGGGGAATTAGAAAAGG A → G ATAGTGATGGGATTCTTTACTGGAT
-319
Gly = Gly
n=
A/A=
A/G=
G/G=
G=
200
48
41
11
0.315
200
99
1
0
0.005
50
25
0
0
0.000
20
7
3
0
0.150
14
7
0
0
0.000
Set-I
 
3303
PDE
rs7560402
1 pub		 169550848  
TTGTCCAGGTACCTTGGACTTATTG A → T CCGAGACATAGCATTTCCTTCTGGT
- 
 
n=
A/A=
A/T=
T/T=
T=
198
83
16
0
0.081
200
100
0
0
0.000
46
23
0
0
0.000
20
10
0
0
0.000
14
7
0
0
0.000
Set-I
 
3304
PDE
rs11568356
I169544760  
ATTTACACATTAACAAAAACACATG A → T AAAATCTCTCTCTTTTCATTTCAGA
- 
 
n=
A/A=
A/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
3305
PDE
rs11568360
I16954136014071281
AAATTGAATTCCATAATGTGACCTT C → T CATTATCCTTCCAGACCAGAGGTGA
-427
Phe = Phe
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
3306
PDE
rs2287622
18 pubs		I16953857414571331
CAGATTCTAAATGACCTCAACATGG T → C CATTAAACCAGGGGAAATGACAGCT
-444
Val → Ala
n=
T/T=
T/C=
C/C=
C=
200
20
54
26
0.530
198
10
65
24
0.571
60
1
18
11
0.667
20
3
4
3
0.500
14
0
1
6
0.929
Set-I
 
3307
PDE
rs2241340
I169536571  
CTAGCCATACATTCCTGGGAGAAAC T → C AAGAGGTCATAGAAGGAAAAAAAGT
- 
 
n=
T/T=
T/C=
C/C=
C=
196
18
50
30
0.561
188
17
36
41
0.628
58
0
12
17
0.793
20
4
3
3
0.450
14
0
1
6
0.929
Set-I
Exon: Coding
3308
PDE
rs11568368
 16953493917971671
ACACCCTTGTTGGAGAAGGAGGAGG C → T CAGATGAGTGGTGGCCAGAAACAAA
-557
Gly = Gly
n=
C/C=
C/T=
T/T=
T=
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
Exon: Coding
3309
PDE
rs11568369
 16953493618001674
CCCTTGTTGGAGAAGGAGGAGGCCA G → C ATGAGTGGTGGCCAGAAACAAAGGG
-558
Gln → His
n=
G/G=
G/C=
C/C=
C=
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
Exon: Coding
3310
PDE
rs11568367
4 pubs		I16953483818981772
GACATGGCCACCTCAGCTCTGGACA A → G TGAGAGTGAAGCCATGGTGCAAGAA
-591
Asn → Ser
n=
A/A=
A/G=
G/G=
G=
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
Exon: Coding
3311
PDE
rs11568370
 16953483619001774
CATGGCCACCTCAGCTCTGGACAAT G → C AGAGTGAAGCCATGGTGCAAGAAGT
-592
Glu → Gln
n=
G/G=
G/C=
C/C=
C=
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
Exon: Coding
3312
PDE
rs11568371
2 pubs		I16953481919171791
TGGACAATGAGAGTGAAGCCATGGT G → T CAAGAAGTGCTGAGTAAGGTTTGTG
-597
Val = Val
n=
G/G=
G/T=
T/T=
T=
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
Exon: Coding
3313
PDE
rs11568364
7 pubs		A16953322921552029
TTGAGTAGATGCAACTGAAGATGAC A → G TGCTTGCGAGGACCTTTAGCAGAGG
-677
Met → Val
n=
A/A=
A/G=
G/G=
G=
200
71
28
1
0.150
200
89
11
0
0.055
60
29
1
0
0.017
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3314
PDE
rs853772
2 pubs		IA169522901  
GAGTACATTTAGATGATTAATATAA C → A CCTCTCTCTGCTCAAGGACAAGGAC
- 
 
n=
C/C=
C/A=
A/A=
A=
198
42
51
6
0.318
198
34
56
9
0.374
52
4
16
6
0.538
20
3
5
2
0.450
14
3
4
0
0.286
Set-I
 
3621
 169509752  
TAAATAGATTTATTTTTCTATTTAT A → AATA ATAAAGTTACTTTCTTGCTTACTAT
- 
 
n=
A/A=
A/AATA=
AATA/AATA=
AATA=
200
82
18
0
0.090
198
99
0
0
0.000
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3316
PDE
rs10930340
 169509750  
AATAGATTTATTTTTCTATTTATAA T → C AAAGTTACTTTCTTGCTTACTATCT
- 
 
n=
T/T=
T/C=
C/C=
C=
200
82
18
0
0.090
198
99
0
0
0.000
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3317
PDE
rs853789
1 pub		A169509734  
TATTTATAATAAAGTTACTTTCTTG C → T TTACTATCTTTCCAAGACTTTTTCA
- 
 
n=
C/C=
C/T=
T/T=
T=
200
86
11
3
0.085
198
46
42
11
0.323
60
30
0
0
0.000
20
7
2
1
0.200
14
3
4
0
0.286
Set-I
Exon: Coding
3318
PDE
rs11568373
2 pubs		IA16950964925382412
ATGGTGTGTGCCTACTTTTTGTAGC A → G ATGGGCTGTGTATCTCTTTTCACCC
-804
Ala = Ala
n=
A/A=
A/G=
G/G=
G=
200
84
16
0
0.080
198
99
0
0
0.000
60
30
0
0
0.000
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
 
3319
PDE
rs11568374
I169509343  
TTCAAGGGGTGAGCTATGGGAGGGG A → C AATAGAAGTATATTAACTGCATTGG
- 
 
n=
A/A=
A/C=
C/C=
C=
164
82
0
0
0.000
194
96
1
0
0.005
60
30
0
0
0.000
18
9
0
0
0.000
14
7
0
0
0.000
Set-I
 
3320
PDE
rs11568379
I169501214  
GTAAAAGCGACTGTGTGTCTGAGAC G → A GGTTGATTGCTTTTTGGTTTGCAGG
- 
 
n=
G/G=
G/A=
A/A=
A=
200
99
1
0
0.005
198
99
0
0
0.000
60
27
3
0
0.050
20
9
1
0
0.050
14
7
0
0
0.000
Set-I
Exon: Coding
3321
PDE
rs497692
6 pubs		I16949726232103084
TGATCTCTGCAGTTGTACTGAGTGC A → G ACAGCTCTTGGAAGAGCCTTCTCTT
-1028
Ala = Ala
n=
A/A=
A/G=
G/G=
G=
196
49
42
7
0.286
194
20
48
29
0.546
60
4
14
12
0.633
16
4
2
2
0.375
14
4
3
0
0.214
Set-I
Exon: Coding
3322
PDE
rs11568359
1 pub		 16949557433843258
TTGATTTTGTTGATTGTAAATTTAC A → G TATCCTTCTCGACCTGACTCGCAAG
-1086
Thr = Thr
n=
A/A=
A/G=
G/G=
G=
200
87
12
1
0.070
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
3323
PDE
rs11568366
I16949209535613435
AGATGATAGATGGTCATGACAGCAA A → G AAAGTAAATGTCCAGTTCCTCCGCT
-1145
Lys = Lys
n=
A/A=
A/G=
G/G=
G=
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
3324
PDE
rs1521808
1 pub		I16949197436823556
AGACAACACCAAAGAAATTCCCATG G → A AAAGAGTCATAGCAGCTGCAAAACA
-1186
Glu → Lys
n=
G/G=
G/A=
A/A=
A=
200
95
5
0
0.025
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
 
3325
PDE
rs579275
1 pub		I169488612  
ATGGTGGGCTGGGGAGCAATCATGC G → A TCTTTGCATCAACTTTCCATCTTCT
- 
 
n=
G/G=
G/A=
A/A=
A=
186
7
40
46
0.710
186
27
48
18
0.452
60
12
14
4
0.367
18
3
3
3
0.500
14
0
3
4
0.786
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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