ABCG8 Chromosome 2
ATP binding cassette subfamily G member 8
Upload your DNA to see your personal genotypes for variants in ABCG8.
What This Gene Does
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ATP binding cassette subfamily G
Locus Type
gene with protein product
Location
2p21
Ensembl
ENSG00000143921
Associated Conditions (10)
Sitosterolemia 1
Cardiovascular phenotype
ABCG8-related disorder
Thrombocytopenia
Abnormal bleeding
Sitosterolemia
Gallbladder disease 4
Gastric cancer
Early-onset coronary artery disease
Abnormal circulating lipid concentration
Key Variants
RS1041083656
Conflicting classifications of pathogenicity
Sitosterolemia 1, Cardiovascular phenotype, Sitosterolemia 1
Health Risk
RS113005049
Conflicting classifications of pathogenicity
ABCG8-related disorder, Sitosterolemia 1, Thrombocytopenia
Health Risk
RS114404835
Conflicting classifications of pathogenicity
ABCG8-related disorder, Cardiovascular phenotype, ABCG8-related disorder
Health Risk
RS117221284
Conflicting classifications of pathogenicity
Sitosterolemia 1, ABCG8-related disorder, Cardiovascular phenotype
Health Risk
RS1326764043
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS137852989
Conflicting classifications of pathogenicity
Sitosterolemia 1, Cardiovascular phenotype, Sitosterolemia
Health Risk
RS137852990
Conflicting classifications of pathogenicity
Sitosterolemia 1, ABCG8-related disorder, Cardiovascular phenotype
Health Risk
RS139677898
Conflicting classifications of pathogenicity
Sitosterolemia 1, Cardiovascular phenotype, Sitosterolemia 1
Health Risk
RS139859350
Conflicting classifications of pathogenicity
Cardiovascular phenotype, ABCG8-related disorder, Cardiovascular phenotype
Health Risk
RS139902223
Conflicting classifications of pathogenicity
Sitosterolemia 1, Cardiovascular phenotype, ABCG8-related disorder
Health Risk
RS140690030
Conflicting classifications of pathogenicity
Sitosterolemia 1, ABCG8-related disorder, Cardiovascular phenotype
Health Risk
RS140778634
Conflicting classifications of pathogenicity
Sitosterolemia 1, Cardiovascular phenotype, Sitosterolemia 1
Health Risk
All Variants (140)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1558863867 | Health Risk | Likely pathogenic | — |
| RS2104947953 | Health Risk | Likely pathogenic | — |
| RS2466201941 | Health Risk | Likely pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS2466203768 | Health Risk | Likely pathogenic | Early-onset coronary artery disease, Early-onset coronary artery disease |
| RS2466280534 | Health Risk | Likely pathogenic | — |
| RS762279471 | Health Risk | Likely pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS763568449 | Health Risk | Likely pathogenic | — |
| RS764857208 | Health Risk | Likely pathogenic | — |
| RS774129955 | Health Risk | Likely pathogenic | — |
| RS1000291485 | Health Risk | Pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS1317214046 | Health Risk | Pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS1349667660 | Health Risk | Pathogenic | — |
| RS137852992 | Health Risk | Pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS137852993 | Health Risk | Pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS137854891 | Health Risk | Pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS141909291 | Health Risk | Pathogenic | — |
| RS1439167347 | Health Risk | Pathogenic | — |
| RS1558796310 | Health Risk | Pathogenic | — |
| RS1668974150 | Health Risk | Pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS2104919976 | Health Risk | Pathogenic | — |
| RS2466158443 | Health Risk | Pathogenic | — |
| RS2466277676 | Health Risk | Pathogenic | — |
| RS2466292637 | Health Risk | Pathogenic | Abnormal circulating lipid concentration, Abnormal circulating lipid concentration |
| RS370422066 | Health Risk | Pathogenic | — |
| RS375005392 | Health Risk | Pathogenic | — |
| RS748233241 | Health Risk | Pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS754182905 | Health Risk | Pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS762540907 | Health Risk | Pathogenic | — |
| RS770488528 | Health Risk | Pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS780072835 | Health Risk | Pathogenic | Cardiovascular phenotype, Sitosterolemia 1, Cardiovascular phenotype |
| RS934115584 | Health Risk | Pathogenic | ABCG8-related disorder, Sitosterolemia 1, ABCG8-related disorder |
| RS957176669 | Health Risk | Pathogenic | Sitosterolemia, Sitosterolemia 1, Sitosterolemia |
| RS137852987 | Health Risk | Pathogenic/Likely pathogenic | Sitosterolemia, Sitosterolemia 1, ABCG8-related disorder |
| RS137852988 | Health Risk | Pathogenic/Likely pathogenic | Sitosterolemia, Sitosterolemia 1, Cardiovascular phenotype |
| RS137852991 | Health Risk | Pathogenic/Likely pathogenic | Sitosterolemia, Sitosterolemia 1, Cardiovascular phenotype |
| RS1456237152 | Health Risk | Pathogenic/Likely pathogenic | ABCG8-related disorder, Sitosterolemia, Sitosterolemia 1 |
| RS371646728 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS387906323 | Health Risk | Pathogenic/Likely pathogenic | Sitosterolemia 1, Sitosterolemia 1 |
| RS544500542 | Health Risk | Pathogenic/Likely pathogenic | Sitosterolemia 1, ABCG8-related disorder, Sitosterolemia |
| RS770023485 | Health Risk | Pathogenic/Likely pathogenic | Sitosterolemia 1, Sitosterolemia 1 |