ANGPT2 (Angiopoietin 2)
Key regulator of angiogenesis and vascular permeability
Gene Information Card
| Symbol | ANGPT2 |
|---|---|
| Full Name | Angiopoietin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 285 ncbi.nlm.nih.gov/gene/285 |
| Ensembl ID | ENSG00000091879 |
| UniProt ID | O15123 |
| OMIM ID | 601922 |
| HGNC ID | 484 |
| Aliases | AGPT2, Ang-2, ANG2, Tie2 ligand |
Description
ANGPT2 encodes angiopoietin 2, a secreted glycoprotein that acts as an antagonist of angiopoietin 1 (ANGPT1) at the TEK (Tie2) receptor. It regulates angiogenesis by destabilizing blood vessels and promoting vascular remodeling, particularly under hypoxic or inflammatory conditions. ANGPT2 is involved in embryonic vascular development, tumor angiogenesis, and vascular permeability in diseases such as sepsis and diabetic retinopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary hemorrhagic telangiectasia (HHT) | Loss-of-function mutations in ANGPT2 impair vascular maturation and stability, leading to telangiectasias and arteriovenous malformations. | ClinVar, OMIM |
| Diabetic retinopathy | Upregulation of ANGPT2 in retinal endothelial cells contributes to vascular leakage and neovascularization. | NCBI Gene, PubMed |
| Sepsis-associated vascular leak | Elevated circulating ANGPT2 disrupts Tie2 signaling, increasing endothelial permeability and organ dysfunction. | UniProt, PubMed |
| Cancer (various) | ANGPT2 overexpression in tumor vasculature promotes angiogenesis and metastasis; associated with poor prognosis in breast, lung, and colorectal cancers. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | High |
| Placenta | 10.2 | High |
| Heart | 8.7 | Medium |
| Liver | 3.1 | Low |
| Brain | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 15.3 | High expression; used as model for angiogenesis studies |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
| MCF7 (breast carcinoma) | 4.5 | Moderate expression |
| A549 (lung carcinoma) | 6.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.40C>T (p.Arg14*) | Nonsense | Rare | Loss of function; associated with HHT |
| c.442G>A (p.Gly148Arg) | Missense | Rare | Likely loss of function; reported in HHT |
| c.1048G>A (p.Glu350Lys) | Missense | Rare | Uncertain significance; ClinVar |
| Amplification (8p23.1) | Copy number gain | 2-5% in cancers | Gain of function; associated with tumor angiogenesis |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg14*, p.Gly148Arg) reduce or abolish ANGPT2 secretion or Tie2 binding, leading to vascular malformations in HHT.
Gain of Function (GOF)
Gene amplification or overexpression in tumors enhances angiogenesis by promoting endothelial cell sprouting and vessel destabilization.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; however, altered ANGPT2/ANGPT1 ratio may functionally mimic dominant-negative effects on Tie2 signaling.
View complete mutation data：
Gene Ontology (GO)
| • Angiogenesis (GO:0001525) | • Receptor antagonist activity (GO:0048019) |
| • Vascular endothelial growth factor receptor signaling pathway (GO:0048010) | • Endothelial cell migration (GO:0043542) |
| • Positive regulation of vascular permeability (GO:0043117) |
Pathways
• Angiopoietin-Tie2 signaling pathway
• VEGF-VEGFR signaling pathway
• Endothelial cell differentiation and sprouting
Protein Summary
Angiopoietin 2 is a 496-amino-acid secreted protein with a coiled-coil domain and a fibrinogen-like domain. It binds to the Tie2 receptor on endothelial cells, acting as a context-dependent antagonist of ANGPT1. Under quiescent conditions, ANGPT2 promotes vessel destabilization; in the presence of VEGF, it facilitates angiogenesis. The protein is stored in Weibel-Palade bodies and released upon endothelial activation. Post-translational modifications include glycosylation and proteolytic processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANGPT2 Knockout HEK293 Cell Line | EDC07528 | Human | 285 | Details Get a Quote |
| ANGPT2 Knockout HeLa Cell Line | EDJ-KQ52619 | Human | 285 | Details Get a Quote |
| ANGPT2 Knockout A-549 Cell Line | EDJ-KQ61098 | Human | 285 | Details Get a Quote |
| ANGPT2 Knockout HCT 116 Cell Line | EDJ-KQ69581 | Human | 285 | Details Get a Quote |
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