APOA2: Apolipoprotein A2 - HDL Metabolism and Amyloidosis
Comprehensive genomic and proteomic analysis of APOA2, a key component of high-density lipoprotein particles.
Gene Information Card
| Symbol | APOA2 |
|---|---|
| Full Name | Apolipoprotein A2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 336 ncbi.nlm.nih.gov/gene/336 |
| Ensembl ID | ENSG00000158874 |
| UniProt ID | P02652 |
| OMIM ID | 107670 |
| HGNC ID | 600 |
| Aliases | apoA-II, Apo-AII, APOA2 |
Description
APOA2 (Apolipoprotein A2) encodes apolipoprotein A-II, the second most abundant protein in high-density lipoprotein (HDL) particles. It plays a critical role in HDL metabolism, reverse cholesterol transport, and lipid homeostasis. APOA2 is primarily synthesized in the liver and secreted into plasma. Mutations in this gene are associated with familial visceral amyloidosis and altered HDL levels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial visceral amyloidosis (ostertag type) | Missense mutations (e.g., p.Gly75Ser) lead to amyloid fibril deposition in visceral organs. | ClinVar, OMIM |
| Hyperalphalipoproteinemia | Increased APOA2 levels contribute to elevated HDL cholesterol. | OMIM, NCBI |
| Apolipoprotein A-II deficiency | Loss-of-function variants result in reduced HDL and altered lipid profiles. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 100.0 | High |
| Small intestine | 20.5 | Medium |
| Kidney | 5.2 | Low |
| Adipose tissue | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 100.0 | Hepatocellular carcinoma cell line |
| Caco-2 | 15.0 | Colorectal adenocarcinoma cell line |
| HEK293 | 2.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly75Ser (c.223G>A) | Missense | Rare | Amyloidogenic; causes familial visceral amyloidosis |
| p.Arg149Ser (c.445A>T) | Missense | Rare | Associated with altered HDL levels |
| p.Val50Met (c.148G>A) | Missense | Rare | Potential amyloidogenic variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants (e.g., frameshift or nonsense) reduce APOA2 protein levels, leading to decreased HDL and altered lipid metabolism.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Amyloidogenic missense mutations (e.g., p.Gly75Ser) may act via dominant-negative mechanism by promoting misfolding and aggregation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HDL-mediated lipid transport (Reactome: R-HSA-8963888)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Chylomicron-mediated lipid transport (Reactome: R-HSA-174800)
Protein Summary
Apolipoprotein A-II (UniProt P02652) is a 77-amino acid mature protein (after signal peptide cleavage) that forms homodimers via a disulfide bond at Cys6. It is a major component of HDL particles, modulating HDL structure and function. The protein is involved in reverse cholesterol transport and has anti-inflammatory properties. Mutations can lead to amyloid fibril formation and systemic amyloidosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOA2 Knockout HEK293 Cell Line | EDJ-KQ4066 | Human | 336 | Details Get a Quote |
| APOA2 Knockout HCT 116 Cell Line | EDJ-KQ25098 | Human | 336 | Details Get a Quote |
| APOA2 Knockout Hep-G2 Cell Line | EDJ-KZ545 | Human | 336 | Details Get a Quote |
| APOA2 Knockout HeLa Cell Line | EDJ-KQ52630 | Human | 336 | Details Get a Quote |
| APOA2 Knockout A-549 Cell Line | EDJ-KQ61105 | Human | 336 | Details Get a Quote |
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