APOC2 Gene - Apolipoprotein C2
A key regulator of lipoprotein lipase activity and triglyceride metabolism
Gene Information Card
| Symbol | APOC2 |
|---|---|
| Full Name | apolipoprotein C2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 344 ncbi.nlm.nih.gov/gene/344 |
| Ensembl ID | ENSG00000130244 |
| UniProt ID | P02655 |
| OMIM ID | 608083 |
| HGNC ID | 609 |
| Aliases | APO-CII, APOC-II, apo-CII |
Description
The APOC2 gene encodes apolipoprotein C-II, a component of chylomicrons, very low-density lipoproteins (VLDL), and high-density lipoproteins (HDL). This protein is a cofactor for lipoprotein lipase (LPL), which hydrolyzes triglycerides in plasma lipoproteins. Defects in APOC2 cause familial chylomicronemia syndrome (type I hyperlipoproteinemia), characterized by severe hypertriglyceridemia and recurrent pancreatitis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial chylomicronemia syndrome (FCS) | Loss-of-function mutations in APOC2 impair activation of lipoprotein lipase, leading to defective clearance of triglyceride-rich lipoproteins. | OMIM #608083; multiple case reports in ClinVar and literature |
| Hypertriglyceridemia, familial | APOC2 deficiency results in elevated plasma triglycerides and chylomicrons. | OMIM #144650; NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Small intestine | 35.1 | High |
| Adipose tissue | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Skeletal muscle | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 62.0 | Hepatocellular carcinoma cell line |
| Caco-2 | 45.3 | Colorectal adenocarcinoma cell line |
| THP-1 | 2.1 | Monocytic cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense/start loss | Rare | Loss of protein function; associated with chylomicronemia |
| c.130C>T (p.Gln44*) | Nonsense | Rare | Premature truncation; loss of LPL activation |
| c.284_285delAG (p.Glu95Valfs*2) | Frameshift | Rare | Frameshift leading to non-functional protein |
Mutation functional classification
Loss of Function (LOF)
Most APOC2 mutations are loss-of-function, leading to reduced or absent apoC-II protein, impairing LPL activation and causing hypertriglyceridemia.
Gain of Function (GOF)
No gain-of-function mutations reported for APOC2.
Dominant Negative (DN)
No dominant-negative mutations reported; APOC2 deficiency is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • lipid transporter activity (GO:0005319) | • heparin binding (GO:0008201) |
| • cholesterol transporter activity (GO:0017127) | • high-density lipoprotein particle (GO:0034364) |
| • very-low-density lipoprotein particle (GO:0034361) | • lipoprotein metabolic process (GO:0042157) |
Pathways
• Chylomicron-mediated lipid transport (Reactome: R-HSA-174800)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Triglyceride catabolism (KEGG: hsa04975)
Protein Summary
Apolipoprotein C-II (apoC-II) is a 79-amino acid protein primarily synthesized in the liver and intestine. It circulates on chylomicrons, VLDL, and HDL. The protein activates lipoprotein lipase (LPL), enabling hydrolysis of triglycerides into free fatty acids and glycerol. Structural analysis reveals an N-terminal lipid-binding domain and a C-terminal LPL-activating region. Deficiency or dysfunction of apoC-II leads to severe hypertriglyceridemia and risk of pancreatitis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOC2 Knockout HEK293 Cell Line | EDJ-KQ50125 | Human | 344 | Details Get a Quote |
| APOC2 Knockout HeLa Cell Line | EDJ-KQ52636 | Human | 344 | Details Get a Quote |
| APOC2 Knockout A-549 Cell Line | EDJ-KQ61111 | Human | 344 | Details Get a Quote |
| APOC2 Knockout HCT 116 Cell Line | EDJ-KQ69597 | Human | 344 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
