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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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APOC2
apolipoprotein C2
Chromosome 19 Β· 19q13.32
NCBI Gene: 344Ensembl: ENSG00000234906.12HGNC: HGNC:609UniProt: A0A024R0T9
148PubMed Papers
21Diseases
0Drugs
18Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingpositive regulation of fatty acid biosynthetic processnegative regulation of lipid metabolic processnegative regulation of receptor-mediated endocytosisfamilial apolipoprotein C-II deficiencyHyperlipoproteinemia type 1Abnormality of the cardiovascular systemamyloidosis
✦AI Summary

APOC2 is a lipoprotein-associated apolipoprotein that serves as a critical activator of lipoprotein lipase (LPL), the enzyme responsible for triglyceride hydrolysis in circulating lipoproteins 1. APOC2 is a component of multiple lipoprotein classes including chylomicrons, VLDL, LDL, and HDL, where it regulates lipid metabolism and redistribution among tissues 1. The protein functions as a cofactor for lipid-metabolizing enzymes and maintains lipoprotein particle structure 1. APOC2 deficiency causes severe hypertriglyceridemia and chylomicronemia syndrome, characterized by marked triglyceride elevation and chylomicron accumulation that can precipitate life-threatening pancreatitis 23. Mutations in APOC2, such as the c.86A>CC variant identified in Chinese populations, result in absent or severely reduced APOC2 protein and dramatically impaired LPL activity 3. Additionally, post-translational modifications of APOC2 influence disease outcomes; lactylation of APOC2 at lysine 70 promotes extracellular lipolysis and has been linked to immunotherapy resistance in lung cancer 4. In cerebrovascular disease, reduced blood miR-1275 levels, which normally suppress APOC2 expression, correlate with increased ischemic stroke risk, suggesting APOC2 dysregulation contributes to atherosclerotic pathology 5. Therapeutic strategies targeting APOC2, including apoC2 mimetics and lactyl-APOC2-directed antibodies, are emerging as potential treatments for triglyceridemia and immunotherapy resistance 64.

Sources cited
1
APOC2 functions as a cofactor enzyme regulator in lipoprotein metabolism and maintains lipoprotein particle structure
PMID: 6099394
2
APOC2 deficiency causes chylomicronemia syndrome with severe hypertriglyceridemia and pancreatitis risk
PMID: 1557997
3
Novel APOC2 mutations (c.86A>CC) cause severe hypertriglyceridemia and recurrent pancreatitis with reduced LPL activity
PMID: 26772541
4
Lactylation of APOC2 at K70 promotes extracellular lipolysis and immunotherapy resistance in lung cancer
PMID: 38981044
5
miR-1275 suppresses APOC2 expression; reduced miR-1275 correlates with increased ischemic stroke risk
PMID: 31935511
6
APOC2 mimetics are being developed as therapeutic agents to reduce triglyceride levels
PMID: 32332431
Disease Associationsβ“˜21
familial apolipoprotein C-II deficiencyOpen Targets
0.78Strong
Hyperlipoproteinemia type 1Open Targets
0.68Moderate
Abnormality of the cardiovascular systemOpen Targets
0.47Moderate
amyloidosisOpen Targets
0.38Weak
Alzheimer diseaseOpen Targets
0.15Weak
hypertriglyceridemia 2Open Targets
0.10Suggestive
familial hypercholesterolemiaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.07Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.07Suggestive
hypoalphalipoproteinemia, primary, 1Open Targets
0.07Suggestive
Disorder of lipid metabolismOpen Targets
0.07Suggestive
fish eye diseaseOpen Targets
0.07Suggestive
Fish-eye diseaseOpen Targets
0.07Suggestive
Combined hyperlipidemiaOpen Targets
0.07Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.07Suggestive
Duane retraction syndromeOpen Targets
0.06Suggestive
response to statinOpen Targets
0.06Suggestive
Hyperlipoproteinemia 1BUniProt
Pathogenic Variants18
NM_000483.5(APOC2):c.196_197del (p.Ala66fs)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 66
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter)Pathogenic
Familial apolipoprotein C-II deficiency|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 92
NM_000483.5(APOC2):c.10C>T (p.Arg4Ter)Pathogenic
not provided|Familial apolipoprotein C-II deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 4
NM_000483.5(APOC2):c.189C>A (p.Tyr63Ter)Pathogenic
Familial apolipoprotein C-II deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 63
NM_000483.5(APOC2):c.73C>T (p.Gln25Ter)Likely pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2025β†’ Residue 25
NM_000483.5(APOC2):c.216-1G>APathogenic
Familial apolipoprotein C-II deficiency
β˜…β˜†β˜†β˜†2024
NM_000483.5(APOC2):c.79C>T (p.Gln27Ter)Likely pathogenic
Familial apolipoprotein C-II deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 27
NM_000483.5(APOC2):c.274dup (p.Gln92fs)Likely pathogenic
APOLIPOPROTEIN C-II (ST. MICHAEL)|Familial apolipoprotein C-II deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 92
NM_000483.5(APOC2):c.25_26del (p.Leu9fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 9
NM_000483.5(APOC2):c.10del (p.Arg4fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 4
NM_000483.5(APOC2):c.177C>A (p.Tyr59Ter)Likely pathogenic
APOLIPOPROTEIN C-II (PADOVA)|Familial apolipoprotein C-II deficiency|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 59
NM_000483.5(APOC2):c.1A>G (p.Met1Val)Likely pathogenic
APOLIPOPROTEIN C-II (PARIS)|Familial apolipoprotein C-II deficiency
β˜…β˜†β˜†β˜†β†’ Residue 1
NM_000483.5(APOC2):c.255C>A (p.Tyr85Ter)Pathogenic
APOLIPOPROTEIN C-II (AUCKLAND)|Familial apolipoprotein C-II deficiency
β˜†β˜†β˜†β˜†2003β†’ Residue 85
NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter)Pathogenic
Familial apolipoprotein C-II deficiency|APOLIPOPROTEIN C-II (BARI)
β˜†β˜†β˜†β˜†1994β†’ Residue 59
NM_000483.5(APOC2):c.142T>C (p.Trp48Arg)Pathogenic
Familial apolipoprotein C-II deficiency|APOLIPOPROTEIN C-II (WAKAYAMA)
β˜†β˜†β˜†β˜†1993β†’ Residue 48
NM_000483.5(APOC2):c.55+1G>CPathogenic
Familial apolipoprotein C-II deficiency|APOLIPOPROTEIN C-II (HAMBURG)
β˜†β˜†β˜†β˜†1992
NM_000483.5(APOC2):c.118del (p.Gln39_Val40insTer)Pathogenic
not provided|Familial apolipoprotein C-II deficiency
β˜†β˜†β˜†β˜†1988β†’ Residue 39
NM_000483.5(APOC2):c.270del (p.Asp91fs)Pathogenic
Familial apolipoprotein C-II deficiency|APOLIPOPROTEIN C-II (TORONTO)
β˜†β˜†β˜†β˜†1988β†’ Residue 91
View on ClinVar β†—
Related Genes
LCATProtein interaction99%PON1Protein interaction97%LPLProtein interaction94%LPAProtein interaction93%APOFProtein interaction93%APOA1Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Lung
0%
Ovary
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
APOC2LCATPON1LPLLPAAPOFAPOA1
PROTEIN STRUCTURE
Preparing viewer…
PDB1BY6 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.07Tolerant
Observed/Expected LoF0.53 [0.29–1.05]
RankingsWhere APOC2 stands among ~20K protein-coding genes
  • #3,058of 20,598
    Most Researched148 Β· top quartile
  • #2,274of 5,498
    Most Pathogenic Variants18
  • #10,563of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedAPOC2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Lactylated Apolipoprotein C-II Induces Immunotherapy Resistance by Promoting Extracellular Lipolysis.
PMID: 38981044
Adv Sci (Weinh) Β· 2024
1.00
2
Plasma lipoproteins: apolipoprotein structure and function.
PMID: 6099394
J Lipid Res Β· 1984
0.90
3
Apolipoprotein disorders.
PMID: 6806887
Ric Clin Lab Β· 1982
0.80
4
Chylomicronemia syndrome.
PMID: 1557997
Adv Intern Med Β· 1992
0.70
5
A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.
PMID: 26772541
Lipids Health Dis Β· 2016
0.60