UCSF Pharmacogenetics of Membrane Transporters
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Common Name:ABCG8
HGNC Symbol:ABCG8
HGNC Description:ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)
HGNC ID:13887
Chromosome:Chr.2(+): 43919607-43959109
Location:2p21
OMIM:605460
OMIM Phenotype:Sitosterolemia
Accessions:NM_022437
Nucleotide RefSeq:NM_022437
Protein RefSeq:NP_071882
Entrez:64241
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 1. 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:PA24412
HPRD ID:05679
Substrates:Cholesterol
Trivial Names:GBD4, STSL, MGC142217
Transcripts:NM_022437 [Chr.2(+): 43919607-43959109]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCG8 Resequencing
[Your browser is not displaying the SVG image of experimental data in gene context.]
Study Name:ABCG8 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
 
4343
PDE
rs72542425
 43919150-457-547
GAGCGCCGGGCCCCGCACTCCTGGG G → A GAGCAGCAGCAGCAAGGGCTCTGCC
+ 
 
n=
G/G=
G/A=
A/A=
A=
126
62
1
0
0.008
134
67
0
0
0.000
136
68
0
0
0.000
132
66
0
0
0.000
PMT-272
 
4344
PDE
rs72542426
 43919184-423-513
GCAGCAAGGGCTCTGCCTTACCTGA C → A GCTGTAGGAGGCATGGAGGATGCCC
+ 
 
n=
C/C=
C/A=
A/A=
A=
128
60
4
0
0.031
134
67
0
0
0.000
136
68
0
0
0.000
132
66
0
0
0.000
PMT-272
 
4345
PDE
rs72542427
 43919273-334-424
CAGGGAGCTCTGGGAGCCTCTGTTT A → C CTTGGAGACCCATGGACCCTCCGGG
+ 
 
n=
A/A=
A/C=
C/C=
C=
128
63
1
0
0.008
134
67
0
0
0.000
136
68
0
0
0.000
132
66
0
0
0.000
PMT-272
 
4346
PDE
rs72542428
 43919296-311-401
TTACTTGGAGACCCATGGACCCTCC G → A GGGGTCAAAGATGAGAGGTCACCCA
+ 
 
n=
G/G=
G/A=
A/A=
A=
128
64
0
0
0.000
134
67
0
0
0.000
136
66
2
0
0.015
132
66
0
0
0.000
PMT-272
Promoter
4347
PDE
rs55853083
 43919440-167-257
CTGCTCCACCTGACCCCGGAGTCCC T → G TGGGACAGCAGGACTGGGACTTGGC
+ 
 
n=
T/T=
T/G=
G/G=
G=
126
62
1
0
0.008
134
67
0
0
0.000
136
68
0
0
0.000
132
64
2
0
0.015
PMT-272
Promoter
4348
PDE
rs67374873
 43919511-96-186
GTACCTTTAGCCAGCGCGTCCTTAT C → G TTGACAGTGGGCAGAACACACACGT
+ 
 
n=
C/C=
C/G=
G/G=
G=
126
62
1
0
0.008
134
67
0
0
0.000
136
68
0
0
0.000
132
66
0
0
0.000
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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