ABCG5 Chromosome 2
ATP binding cassette subfamily G member 5
Upload your DNA to see your personal genotypes for variants in ABCG5.
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 as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, 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
ENSG00000138075
Associated Conditions (11)
Sitosterolemia 1
Sitosterolemia
Sitosterolemia 2
Cardiovascular phenotype
ABCG5-related disorder
Hyperuricemic nephropathy
familial juvenile type 4
Thrombocytopenia
Short-rib thoracic dysplasia 15 with polydactyly
Hypercholesterolemia
Abnormal circulating lipid concentration
Key Variants
RS114868704
Conflicting classifications of pathogenicity
Sitosterolemia 1, Sitosterolemia 1
Health Risk
RS115590670
Conflicting classifications of pathogenicity
Sitosterolemia, Sitosterolemia 2, Cardiovascular phenotype
Health Risk
RS1212418813
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Sitosterolemia, Cardiovascular phenotype
Health Risk
RS1268790878
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1280347803
Conflicting classifications of pathogenicity
Sitosterolemia, Sitosterolemia
Health Risk
RS1280735521
Conflicting classifications of pathogenicity
Sitosterolemia, Cardiovascular phenotype, Sitosterolemia
Health Risk
RS1378141167
Conflicting classifications of pathogenicity
Sitosterolemia, Sitosterolemia
Health Risk
RS140341571
Conflicting classifications of pathogenicity
Sitosterolemia, Sitosterolemia
Health Risk
RS140899003
Conflicting classifications of pathogenicity
Sitosterolemia 1, Sitosterolemia, Cardiovascular phenotype
Health Risk
RS141016088
Conflicting classifications of pathogenicity
Sitosterolemia, Sitosterolemia 1, Cardiovascular phenotype
Health Risk
RS141386201
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Sitosterolemia, Cardiovascular phenotype
Health Risk
RS141828689
Conflicting classifications of pathogenicity
Sitosterolemia, Sitosterolemia 1, Cardiovascular phenotype
Health Risk
All Variants (96)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769429015 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia 1, Sitosterolemia 2, Sitosterolemia |
| RS770103215 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia 1, Cardiovascular phenotype, Sitosterolemia |
| RS771802286 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia 1, Sitosterolemia, Cardiovascular phenotype |
| RS772295351 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia, Sitosterolemia 2, Sitosterolemia |
| RS773296588 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia, Cardiovascular phenotype, ABCG5-related disorder |
| RS777313666 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia, Cardiovascular phenotype, Sitosterolemia |
| RS777411661 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia 1, Cardiovascular phenotype, Sitosterolemia |
| RS778605187 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia, Cardiovascular phenotype, Sitosterolemia |
| RS779676205 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia, Sitosterolemia |
| RS886044572 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia, ABCG5-related disorder, Sitosterolemia |
| RS886056030 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia 1, Cardiovascular phenotype, Sitosterolemia 1 |
| RS897344189 | Health Risk | Conflicting classifications of pathogenicity | Sitosterolemia 2, Cardiovascular phenotype, Sitosterolemia 2 |
| RS1482373824 | Health Risk | Likely pathogenic | Sitosterolemia 2, Sitosterolemia 2 |
| RS2466053172 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Sitosterolemia 2, Short-rib thoracic dysplasia 15 with polydactyly |
| RS370368811 | Health Risk | Likely pathogenic | Sitosterolemia, Sitosterolemia, Sitosterolemia |
| RS754893727 | Health Risk | Likely pathogenic | Sitosterolemia, Sitosterolemia |
| RS768019354 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS780744534 | Health Risk | Likely pathogenic | Sitosterolemia, Sitosterolemia |
| RS1158082114 | Health Risk | Pathogenic | — |
| RS1171022283 | Health Risk | Pathogenic | Sitosterolemia, Sitosterolemia |
| RS119479066 | Health Risk | Pathogenic | Sitosterolemia 2, ABCG5-related disorder, Sitosterolemia |
| RS119479067 | Health Risk | Pathogenic | Sitosterolemia 2, Sitosterolemia, Sitosterolemia 2 |
| RS119480070 | Health Risk | Pathogenic | Sitosterolemia 2, Sitosterolemia 2 |
| RS1344704197 | Health Risk | Pathogenic | Sitosterolemia, Sitosterolemia |
| RS140111105 | Health Risk | Pathogenic | Sitosterolemia, Sitosterolemia 2, Cardiovascular phenotype |
| RS1404218188 | Health Risk | Pathogenic | Sitosterolemia, Sitosterolemia, Sitosterolemia |
| RS1428480606 | Health Risk | Pathogenic | Sitosterolemia, Sitosterolemia |
| RS1470569820 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1553372935 | Health Risk | Pathogenic | — |
| RS2104830594 | Health Risk | Pathogenic | — |
| RS2465896835 | Health Risk | Pathogenic | Sitosterolemia, Sitosterolemia |
| RS2465951776 | Health Risk | Pathogenic | Sitosterolemia, Sitosterolemia |
| RS2466150084 | Health Risk | Pathogenic | Cardiovascular phenotype, Sitosterolemia, Cardiovascular phenotype |
| RS387906912 | Health Risk | Pathogenic | Sitosterolemia 2, Sitosterolemia 2 |
| RS575266356 | Health Risk | Pathogenic | Sitosterolemia, Cardiovascular phenotype, Sitosterolemia |
| RS755809709 | Health Risk | Pathogenic | Sitosterolemia, Sitosterolemia |
| RS760929179 | Health Risk | Pathogenic | — |
| RS770488364 | Health Risk | Pathogenic | Sitosterolemia, Sitosterolemia |
| RS781098379 | Health Risk | Pathogenic | Hypercholesterolemia, Abnormal circulating lipid concentration, Cardiovascular phenotype |
| RS119479065 | Health Risk | Pathogenic/Likely pathogenic | Sitosterolemia 2, Sitosterolemia, Sitosterolemia 2 |
| RS119480069 | Health Risk | Pathogenic/Likely pathogenic | Sitosterolemia 2, Sitosterolemia, Cardiovascular phenotype |
| RS145300824 | Health Risk | Pathogenic/Likely pathogenic | Sitosterolemia, Cardiovascular phenotype, Sitosterolemia 2 |
| RS1558738919 | Health Risk | Pathogenic/Likely pathogenic | Sitosterolemia 2, Sitosterolemia, Sitosterolemia 2 |
| RS754944896 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Sitosterolemia 2, Cardiovascular phenotype |
| RS762031825 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Sitosterolemia 1, Sitosterolemia |
| RS869025350 | Health Risk | Pathogenic/Likely pathogenic | Sitosterolemia, Sitosterolemia |