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: 64240
MIM: 605459
HGNC: 13886
Ensembl: ENSG00000138075
Variants:
dbSNP: 64240
ClinVar: 64240
TCGA: ENSG00000138075
COSMIC: ABCG5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000138075 | ENST00000405322 | Q9H222 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38108658 | 2024 | Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment. | 1 |
| 38347599 | 2024 | Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses. | 0 |
| 38108658 | 2024 | Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment. | 1 |
| 38347599 | 2024 | Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses. | 0 |
| 35705271 | 2023 | Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5. | 1 |
| 35705271 | 2023 | Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5. | 1 |
| 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 |
| 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 |
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/
