APOC3 (Apolipoprotein C3) Gene
Key regulator of triglyceride metabolism and cardiovascular risk
Gene Information Card
| Symbol | APOC3 |
|---|---|
| Full Name | Apolipoprotein C3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 345 ncbi.nlm.nih.gov/gene/345 |
| Ensembl ID | ENSG00000110245 |
| UniProt ID | P02656 |
| OMIM ID | 107720 |
| HGNC ID | 610 |
| Aliases | APOCIII, Apo-CIII, MGC150353 |
Description
APOC3 encodes apolipoprotein C3, a component of very low-density lipoproteins (VLDL) and chylomicrons. It inhibits lipoprotein lipase and hepatic lipase, thereby delaying catabolism of triglyceride-rich particles. Elevated APOC3 levels are associated with hypertriglyceridemia and increased cardiovascular risk, while loss-of-function variants reduce triglycerides and coronary artery disease risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertriglyceridemia, familial | APOC3 gain-of-function or overexpression impairs triglyceride clearance | OMIM #145750 |
| Cardiovascular disease | Elevated APOC3 promotes atherogenic dyslipidemia | ClinVar, NCBI |
| APOC3 deficiency | Loss-of-function mutations reduce triglycerides and protect against coronary artery disease | OMIM #107720 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Small intestine | 8.3 | Medium |
| Adipose tissue | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| Caco-2 | 9.8 | Colorectal adenocarcinoma cell line |
| THP-1 | 1.5 | Monocytic cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.55C>T (p.Arg19Ter) | Nonsense | 0.1% in East Asians | Loss of function, reduced triglycerides |
| c.110C>T (p.Thr37Met) | Missense | 0.5% in Europeans | Gain of function, increased triglycerides |
| c.56G>A (p.Arg19Gln) | Missense | 0.2% in Africans | Loss of function, reduced triglycerides |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg19Ter) reduce APOC3 activity, lowering plasma triglycerides and cardiovascular risk.
Gain of Function (GOF)
Missense variants (e.g., p.Thr37Met) increase APOC3 activity, elevating triglycerides and cardiovascular risk.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported for APOC3.
View complete mutation data：
Gene Ontology (GO)
| • lipid binding | • lipoprotein lipase inhibitor activity |
| • triglyceride-rich lipoprotein particle remodeling | • chylomicron remnant clearance |
| • high-density lipoprotein particle assembly |
Pathways
• Lipoprotein metabolism
• Triglyceride metabolism
• PPAR signaling pathway
• Chylomicron-mediated lipid transport
Protein Summary
Apolipoprotein C3 is a 99-amino acid protein secreted mainly by the liver and intestine. It circulates on VLDL, chylomicrons, and HDL. By inhibiting lipoprotein lipase and hepatic lipase, it delays clearance of triglycerides from plasma. Its expression is regulated by PPARα and insulin. Loss-of-function mutations are protective against hypertriglyceridemia and coronary artery disease, making APOC3 a therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOC3 Knockout HEK293 Cell Line | EDJ-KQ3340 | Human | 345 | Details Get a Quote |
| APOC3 Knockout HeLa Cell Line | EDJ-KQ52637 | Human | 345 | Details Get a Quote |
| APOC3 Knockout A-549 Cell Line | EDJ-KQ61112 | Human | 345 | Details Get a Quote |
| APOC3 Knockout HCT 116 Cell Line | EDJ-KQ69598 | Human | 345 | Details Get a Quote |
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