UCSF Pharmacogenetics of Membrane Transporters
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Common Name:ABCG5
HGNC Symbol:ABCG5
HGNC Description:ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)
HGNC ID:13886
Chromosome:Chr.2(-): 43893115-43919462
Location:2p21
OMIM:605459
OMIM Phenotype:Sitosterolemia
Accessions:NM_022436
Nucleotide RefSeq:NM_022436
Protein RefSeq:NP_071881
Entrez:64240
Isoforms:1
Evidence:Substrate In Vivo Evidence: Cholesterol 1. ABCG5/G8 adenovirus expression in ABCG5/G8 null mice. Graf GA, et al. JBC. 2003; 278: 48275-82. 2. ABCG5/G8 K.O. mouse. Yu L, et al. JBC. 2003; 278:15565-70. Tissue Distribution Evidence: Small Intestine 1. RT-PCR. Berge KE, et al. Science. 2000; 290:1771-5. 2. TaqMan RT-PCR. Langmann T, et al. Clinical Chemistry. 2003; 49: 230-8. Liver 1. RT-PCR. Berge KE, et al. Science. 2000; 290:1771-5. 2. TaqMan RT-PCR. Langmann T, et al. Clinical Chemistry. 2003; 49: 230-8. Gallbladder - RT-PCR. Tauscher A, et al. Biochem Biophys Res Commun. 2003; 307:1021-8
Tissues:Small intestine, Liver, Gallbladder
Type:protein coding
Sets:V
PharmGKB ID:PA24411
HPRD ID:05678
Substrates:Cholesterol
Trivial Names:STSL
Transcripts:NM_022436 [Chr.2(-): 43893115-43919462]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCG5 Resequencing
[Your browser is not displaying the SVG image of experimental data in gene context.]
Study Name:ABCG5 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 FreqSample Set
 
4353
PDE
rs72647317
 43919856-394-534
TCAGGAGCCTTCTGTCCTAGCACCA C → A CCGGACATCAAGCAGTGTGAGGACA
+ 
 
n=
C/C=
C/A=
A/A=
A=
132
64
2
0
0.015
130
65
0
0
0.000
134
67
0
0
0.000
128
64
0
0
0.000
PMT-272
 
4352
PDE
rs11887534
2 pubs		 43919751-289-429
GCTGCCGAAAGGGGCCACTCCCCAG G → C ATACCTCGGTGAGTGAGCAATGGGA
+ 
 
n=
G/G=
G/C=
C/C=
C=
132
59
6
1
0.061
132
57
9
0
0.068
136
65
3
0
0.022
130
46
18
1
0.154
PMT-272
 
4351
PDE
rs72647316
 43919747-285-425
GAGGGCTGCCGAAAGGGGCCACTCC C → A CAGGATACCTCGGTGAGTGAGCAAT
+ 
 
n=
C/C=
C/A=
A/A=
A=
132
63
3
0
0.023
132
66
0
0
0.000
136
68
0
0
0.000
130
65
0
0
0.000
PMT-272
Promoter
4350
PDE
rs72647315
 43919682-220-360
TAAGAGAGCTGCAGCCCAGGGTCAC A → C GACCTGTGGGCCCCATGGCCGGGAA
+ 
 
n=
A/A=
A/C=
C/C=
C=
132
52
13
1
0.114
132
66
0
0
0.000
136
68
0
0
0.000
130
65
0
0
0.000
PMT-272
Promoter
4349
PDE
rs3806471
1 pub		 43919678-216-356
GGTCTAAGAGAGCTGCAGCCCAGGG T → G CACAGACCTGTGGGCCCCATGGCCG
+ 
 
n=
T/T=
T/G=
G/G=
G=
132
23
36
7
0.379
132
29
31
6
0.326
136
1
20
47
0.838
130
29
31
5
0.315
PMT-272
Promoter
4348
PDE
rs67374873
 43919511-49-189
GTACCTTTAGCCAGCGCGTCCTTAT C → G TTGACAGTGGGCAGAACACACACGT
+ 
 
n=
C/C=
C/G=
G/G=
G=
132
65
1
0
0.008
132
66
0
0
0.000
136
68
0
0
0.000
128
64
0
0
0.000
PMT-272
Exon: 5UTR
Promoter
4347
PDE
rs55853083
 4391944023-118
CTGCTCCACCTGACCCCGGAGTCCC T → G TGGGACAGCAGGACTGGGACTTGGC
+ 
 
n=
T/T=
T/G=
G/G=
G=
132
65
1
0
0.008
130
65
0
0
0.000
136
68
0
0
0.000
128
62
2
0
0.016
PMT-272

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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