Overview
| Alternate Names: | ATP-binding cassette sub-family G member 5; ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1); ATP-binding cassette, subfamily G, member 5; OTTHUMP00000158956; sterolin 1 |
|---|---|
| Alternate Symbols: | ABCG5; STSL |
| PharmGKB Accession Id: | PA24411 |
Details
| Cytogenetic Location: | chr2 : p21 |
|---|---|
| GP mRNA Boundary†: | chr2 : 43893115 - 43919462 |
| GP Gene Boundary†: | chr2 : 43890115 - 43929462 |
| Strand: | minus |
| Product Name: | ATP-binding cassette, subfamily G, member 5, sterolin 1 |
†
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped
onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries
by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for
potential regulatory regions.
Curated Annotations (
)
-
rs11887534
at chr2:43919751
in
ABCG5,
ABCG8
In a GWAS of cases and controls from an unspecificied population, rs11887534 was found to be associated with gallstones. This finding was replicated in German and Chilean populations.- Variant Name:
- ABCG8:D19H
- Related Diseases:
- Cholelithiasis
- Evidence:
-
PMID:17632509
-
rs4299376
at chr2:43926080
in
ABCG5,
ABCG8
In a case-control study of European populations, rs4299376 was found to be associated with risk of gallstones.- Related Diseases:
- Cholelithiasis
- Evidence:
-
PMID:17632509
Non-Curated Annotations (
)
-
rs6756629
at chr2:43918594
in
ABCG5,
ABCG8
GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 22,562 individuals; Replication Sample Size: NR); (Region: 2p21; Reported Gene(s): ABCG5; Risk Allele: rs6756629-G); (p-value= 0.00000000002).This variant is associated with Cholesterol, total. -
rs6756629
at chr2:43918594
in
ABCG5,
ABCG8
GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 17,797 individuals; Replication Sample Size: NR); (Region: 2p21; Reported Gene(s): ABCG5; Risk Allele: rs6756629-G); (p-value= 0.0000000003).This variant is associated with LDL cholesterol. -
rs11887534
at chr2:43919751
in
ABCG5,
ABCG8
GWAS Results: A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease (Initial Sample Size: 280 cases, 360 controls; Replication Sample Size: 2,000 cases, 1,202 controls; Risk Allele: rs11887534-C).- Related Diseases:
- Cholelithiasis
- Evidence:
-
PMID:17632509
http://www.genome.gov/gwastudies/
-
rs6544713
at chr2:43927385
in
ABCG5,
ABCG8
GWAS results: Common variants at 30 loci contribute to polygenic dyslipidemia. (Initial Sample Size: 19,840 individuals; Replication Sample Size: Up to 20,623 individuals); (Region: 2p21; Reported Gene(s): ABCG8; Risk Allele: rs6544713-T); (p-value= 2E-20).This variant is associated with LDL cholesterol.
Variant names are different names that have been used in the literature and other resources to
refer to the same variant.
Non-curated variant information is accumulated solely by computational methods and has not
been verified by the scientific staff at PharmGKB.
Non-Curated Information
A list of non-curated publications that mention this gene along with other genes is available.
Non-Curated Information
A list of non-curated publications that mention this gene along with other drugs is available.
Curated Information
The following diseases are in curated knowledge about this gene.
Primary phenotype data has been submitted and is available
Primary genotype data has been submitted and is available
| Disease | Relationship | Evidence | |
|---|---|---|---|
|
Cholelithiasis |
|
Publications, Variants |
Non-Curated Information
A list of non-curated publications that mention this gene along with other diseases is available.
LinkOuts
- Ref Seq NT Accession:
- AC_000045
- AC_000134
- NC_000002
- NG_008883
- NG_008884
- NT_022184
- NW_001838769
- NW_927719
- UniProtKB Accesssion:
- ABCG5_HUMAN (Q9H222)
- Ensembl ID:
- ENSG00000138075
- GenAtlas ID:
- ABCG5
- GeneCard ID:
- ABCG5
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.