Identity
HGNC
LOCATION
2p21
LOCUSID
ALIAS
GBD4,STSL,STSL1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 64241
MIM: 605460
HGNC: 13887
Ensembl: ENSG00000143921
Variants:
dbSNP: 64241
ClinVar: 64241
TCGA: ENSG00000143921
COSMIC: ABCG8
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000143921 | ENST00000272286 | Q9H221 |
| ENSG00000143921 | ENST00000644611 | A0A2R8Y6M1 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443796 | Coronary Artery Disease | Disease | ClinicalAnnotation | associated | PD | 15262185, 16103896, 20592455 | |
| PA444516 | Hypercholesterolemia | Disease | ClinicalAnnotation | associated | PD | 15262185, 16103896, 20592455 | |
| PA448500 | atorvastatin | Chemical | ClinicalAnnotation | associated | PD | 15262185, 16103896, 20592455 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38347599 | 2024 | Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses. | 0 |
| 38347599 | 2024 | Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses. | 0 |
| 35129276 | 2022 | Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children. | 5 |
| 35549507 | 2022 | Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program. | 6 |
| 35988751 | 2022 | Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8. | 5 |
| 35129276 | 2022 | Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children. | 5 |
| 35549507 | 2022 | Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program. | 6 |
| 35988751 | 2022 | Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8. | 5 |
| 32546081 | 2021 | ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction. | 7 |
| 33395105 | 2021 | Recent advances in ABCG5 and ABCG8 variants. | 6 |
| 33807969 | 2021 | Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8. | 14 |
| 34310734 | 2021 | NF-κB Regulation of LRH-1 and ABCG5/8 Potentiates Phytosterol Role in the Pathogenesis of Parenteral Nutrition-Associated Cholestasis. | 7 |
| 34510707 | 2021 | The Complex ABCG5/ABCG8 Regulates Vitamin D Absorption Rate and Contributes to its Efflux from the Intestine. | 1 |
| 34845882 | 2021 | The association of cytochrome 7A1 and ATP-binding cassette G8 genotypes with type 2 diabetes among Jordanian patients. | 1 |
| 34906072 | 2021 | Risk of gallstones based on ABCG8 rs11887534 single nucleotide polymorphism among Taiwanese men and women. | 2 |
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
