ABCG8 (ATP binding cassette subfamily G member 8)

2009-11-01  

Identity

HGNC
LOCATION
2p21
LOCUSID
ALIAS
GBD4,STSL,STSL1
FUSION GENES

Other Information

Locus ID:

NCBI: 64241
MIM: 605460
HGNC: 13887
Ensembl: ENSG00000143921

Variants:

dbSNP: 64241
ClinVar: 64241
TCGA: ENSG00000143921
COSMIC: ABCG8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143921ENST00000272286Q9H221
ENSG00000143921ENST00000644611A0A2R8Y6M1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443796Coronary Artery DiseaseDiseaseClinicalAnnotationassociatedPD15262185, 16103896, 20592455
PA444516HypercholesterolemiaDiseaseClinicalAnnotationassociatedPD15262185, 16103896, 20592455
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD15262185, 16103896, 20592455

References

Pubmed IDYearTitleCitations
190609062009Common variants at 30 loci contribute to polygenic dyslipidemia.552
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
176325092007A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.66
176325092007A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.66
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
156111122005Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion.56
271443562016Crystal structure of the human sterol transporter ABCG5/ABCG8.45
205299922010Genetic regulation of serum phytosterol levels and risk of coronary artery disease.38
205299922010Genetic regulation of serum phytosterol levels and risk of coronary artery disease.38

Citation

Dessen P

ABCG8 (ATP binding cassette subfamily G member 8)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51176/abcg8