APOA5 apolipoprotein A5
Gene ID: 116519, updated on 2-Nov-2024Gene type: protein coding
Also known as: RAP3; APOAV
- See all available tests in GTR for this gene
- Go to complete Gene record for APOA5
- Go to Variation Viewer for APOA5 variants
Summary
The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. GeneReviews: Not available | |
| A genome wide association study identifies common variants associated with lipid levels in the Chinese population. GeneReviews: Not available | |
| A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population. GeneReviews: Not available | |
| A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. GeneReviews: Not available | |
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
| Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. GeneReviews: Not available | |
| Familial type 5 hyperlipoproteinemia | not available |
| Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. GeneReviews: Not available | |
| Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available | |
| Genome-wide association study identifies common variants associated with circulating vitamin E levels. GeneReviews: Not available | |
| Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. GeneReviews: Not available | |
| Genome-wide association study identifies multiple loci influencing human serum metabolite levels. GeneReviews: Not available | |
| Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. GeneReviews: Not available | |
| Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men. GeneReviews: Not available | |
| Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. GeneReviews: Not available | |
| Hypertriglyceridemia 1 | not available |
| Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. GeneReviews: Not available | |
| Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. GeneReviews: Not available | |
| Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. GeneReviews: Not available | |
| Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. GeneReviews: Not available | |
| Newly identified loci that influence lipid concentrations and risk of coronary artery disease. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available | |
| Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. GeneReviews: Not available |
Genomic context
- Location:
- 11q23.3
- Sequence:
- Chromosome: 11; NC_000011.10 (116789367..116792420, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for APOA5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- APOA5 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.