Gene:
ABCG8
ATP-binding cassette, sub-family G (WHITE), member 8
PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.
PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.
PharmGKB contains no Clinical Variants that meet the highest level of criteria.
To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.
Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.
The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.
The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.
The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.
Links in the "Drugs" column lead to PharmGKB Drug Pages.
List of all variant annotations for ABCG8
|
Variant?
(147) |
Alternate Names ? | Chemicals ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs11887534 | NC_000002.11:g.44066247G>C, NC_000002.12:g.43839108G>C, NG_008883.1:g.4712C>G, NG_008884.1:g.5145G>C, NM_022436.2:c.-429C>G, NM_022437.2:c.55G>C, NP_071882.1:p.Asp19His, XM_005264480.1:c.-429C>G, XM_005264480.2:c.-429C>G, XM_005264481.1:c.-429C>G, XM_005264483.1:c.55G>C, XM_005264483.2:c.55G>C, XM_006712073.2:c.-429C>G, XM_006712074.2:c.-429C>G, XM_011533024.1:c.-429C>G, XM_011533025.1:c.-1172C>G, XM_011533026.1:c.-429C>G, XM_011533027.1:c.-1287C>G, XM_011533029.1:c.76-5399G>C, XM_011533030.1:c.76-5399G>C, XM_011533031.1:c.-153-5399G>C, XP_005264540.1:p.Asp19His, XR_939707.1:n.566-5399G>C, rs17495905 |
G > C
|
SNP |
D19H
|
Overview
| Alternate Names: | gallbladder disease 4; sterolin 2 |
|---|---|
| Alternate Symbols: | GBD4 |
| PharmGKB Accession Id: | PA24412 |
Details
| Cytogenetic Location: | chr2 : p21 - p21 |
|---|---|
| GP mRNA Boundary†: | chr2 : 44066103 - 44105947 |
| GP Gene Boundary†: | chr2 : 44056103 - 44108947 |
| Strand: | plus |
Visualization
UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.
View on UCSC BrowserPharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
-
Statin Pathway, Pharmacodynamics
Genes involved in mediating statin effects on hepatic cholesterol metabolism and consequent effects on plasma lipoprotein transport.
Curated Information ?
| Evidence | Disease |
|---|---|
| Coronary Artery Disease | |
| Hypercholesterolemia |
Publications related to ABCG8: 9
LinkOuts
- UniProtKB:
- ABCG8_HUMAN (Q9H221)
- Ensembl:
- ENSG00000143921
- GenAtlas:
- ABCG8
- GeneCard:
- ABCG8
- MutDB:
- ABCG8
- ALFRED:
- LO022621N