ABCG5 (ATP binding cassette subfamily G member 5)

2014-11-01  

Identity

HGNC
LOCATION
2p21
LOCUSID
ALIAS
STSL,STSL2

Other Information

Locus ID:

NCBI: 64240
MIM: 605459
HGNC: 13886
Ensembl: ENSG00000138075

Variants:

dbSNP: 64240
ClinVar: 64240
TCGA: ENSG00000138075
COSMIC: ABCG5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138075ENST00000405322Q9H222

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Fat digestion and absorptionKEGGko04975
Fat digestion and absorptionKEGGhsa04975
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Trafficking of dietary sterolsREACTOMER-HSA-265473

References

Pubmed IDYearTitleCitations
190609112009Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.392
122088682002Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol.160
145042692003ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion.122
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
156111122005Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion.56
271443562016Crystal structure of the human sterol transporter ABCG5/ABCG8.45
203709132010Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data.35
174039002007Cooperative interaction between hepatocyte nuclear factor 4 alpha and GATA transcription factors regulates ATP-binding cassette sterol transporters ABCG5 and ABCG8.34
176262662007Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol.33
204039972010Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer.30

Citation

Dessen P

ABCG5 (ATP binding cassette subfamily G member 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60045/abcg5