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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APOA2
apolipoprotein A2
Chromosome 1 · 1q23.3
NCBI Gene: 336Ensembl: ENSG00000158874.13HGNC: HGNC:601UniProt: P02652
197PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
receptor ligand activitysignaling receptor bindinglipid carrier activityprotein bindingapolipoprotein A-II amyloidosisamyloidosishypercholesterolemia, familial, 1pachyonychia congenita
✦AI Summary

APOA2 (apolipoprotein A2) is a structural component of high-density lipoprotein (HDL) that stabilizes HDL particles and regulates their metabolism 1. The protein facilitates cholesterol binding, efflux, and transport, with involvement in HDL particle assembly and maintenance of cholesterol homeostasis. PPARα activation increases APOA2 production as part of its mechanism for raising plasma HDL levels 1. APOA2 exhibits significant gene-diet interactions, particularly with saturated fat intake. The APOA2 -265T>C polymorphism shows consistent interactions with dietary saturated fat across three independent populations, where individuals carrying the CC genotype with high saturated fat intake (≥22 g/day) demonstrate a 6.2% greater BMI increase and 1.84-fold higher obesity odds compared to TT+TC carriers 2. Similarly, the rs5082 variant demonstrates genotype-dependent weight-loss responses to low-carbohydrate versus low-fat diets 3. Disease relevance includes metabolic and cardiovascular pathophysiology. Mediterranean diet studies demonstrate APOA2 genetic variants interact with dietary interventions to influence cardiovascular disease and diabetes risk 45. APOA2 polymorphisms also associate with altered HDL and APOA1 levels, particularly in obese individuals 6. Emerging evidence implicates APOA2 in neurodegenerative disease, as proteogenomic analysis identified APOA2 among dysregulated proteins in Parkinson's disease pathogenesis 7, and in hepatocellular carcinoma, where APOA2 mRNA stability modulates immune checkpoint regulation via the SAMD4B-APOA2-PD-L1 axis 8.

Sources cited
1
APOA2 is a constituent of HDL whose increased production by PPARα activation contributes to elevated plasma HDL levels
PMID: 17604218
2
APOA2 -265T>C polymorphism shows consistent gene-diet interactions with saturated fat intake affecting BMI and obesity risk across three independent populations
PMID: 19901143
3
APOA2 genetic variants interact with Mediterranean diet interventions to influence cardiovascular disease and diabetes outcomes
PMID: 25940230
4
APOA2 gene polymorphisms demonstrate interactions with Mediterranean diet on cardiovascular risk factors
PMID: 24829485
5
APOA2 rs3813627 SNP associates with low HDL and APOA1 levels in overweight/obese individuals, mediated by BMI
PMID: 32120838
6
APOA2 genotypes at rs5082 variant show differential weight-loss responses to low-carbohydrate versus low-fat diets, dependent on saturated fat intake
PMID: 40310284
7
APOA2 identified as a dysregulated protein with potential roles in Parkinson's disease pathogenesis
PMID: 39080267
8
APOA2 mRNA stability is regulated by SAMD4B-mediated 2'-O-methylation modification and affects PD-L1 levels in hepatocellular carcinoma immune regulation
PMID: 38886351
Disease Associationsⓘ20
apolipoprotein A-II amyloidosisOpen Targets
0.40Weak
amyloidosisOpen Targets
0.38Weak
hypercholesterolemia, familial, 1Open Targets
0.33Weak
pachyonychia congenitaOpen Targets
0.09Suggestive
familial primary localized cutaneous amyloidosisOpen Targets
0.08Suggestive
myocardial infarctionOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
hypertriglyceridemia 2Open Targets
0.07Suggestive
multiple myelomaOpen Targets
0.07Suggestive
gestational diabetesOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.06Suggestive
familial hypercholesterolemiaOpen Targets
0.06Suggestive
metabolic syndromeOpen Targets
0.06Suggestive
Combined hyperlipidemiaOpen Targets
0.06Suggestive
ACys amyloidosisOpen Targets
0.05Suggestive
Hereditary cerebral hemorrhage with amyloidosis, Icelandic typeOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
pancreatic intraductal papillary-mucinous neoplasmOpen Targets
0.05Suggestive
sitosterolemia 2Open Targets
0.05Suggestive
Pathogenic Variants3
NM_001643.2(APOA2):c.301T>A (p.Ter101Arg)Likely pathogenic
not provided
★★☆☆2024→ Residue 101
NM_001643.2(APOA2):c.301T>G (p.Ter101Gly)Likely pathogenic
not provided
★☆☆☆2024→ Residue 101
NM_001643.2(APOA2):c.185+1G>APathogenic
APOLIPOPROTEIN A-II DEFICIENCY
☆☆☆☆1990
View on ClinVar ↗
Related Genes
A2MProtein interaction100%AFPProtein interaction99%AHSGProtein interaction99%ALBProtein interaction99%AMBPProtein interaction99%APOBProtein interaction99%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
0%
Lung
0%
Brain
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
APOA2A2MAFPAHSGALBAMBPAPOB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P02652
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.35Tolerant
Observed/Expected LoF0.39 [0.18–1.01]
RankingsWhere APOA2 stands among ~20K protein-coding genes
  • #2,147of 20,598
    Most Researched197 · top quartile
  • #3,939of 5,498
    Most Pathogenic Variants3
  • #9,855of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedAPOA2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Benefits of the Mediterranean Diet: Insights From the PREDIMED Study.
PMID: 25940230
Prog Cardiovasc Dis · 2015
1.00
2
Mediterranean diet and cardiovascular health: Teachings of the PREDIMED study.
PMID: 24829485
Adv Nutr · 2014
0.90
3
Varicocoele-associated male infertility: Cellular and molecular perspectives of pathophysiology.
PMID: 36040837
Andrology · 2022
0.84
4
Proteogenomic network analysis reveals dysregulated mechanisms and potential mediators in Parkinson's disease.
PMID: 39080267
Nat Commun · 2024
0.80
5
Effects of Recombinant Human Lecithin Cholesterol Acyltransferase on Lipoprotein Metabolism in Humans.
PMID: 38695168
Arterioscler Thromb Vasc Biol · 2024
0.76