ANXA2 Gene (Annexin A2): Structure, Function, and Clinical Significance
A comprehensive overview of the ANXA2 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | ANXA2 |
|---|---|
| Full Name | Annexin A2 |
| Gene Type | protein coding |
| Chromosomal Location | 15q22.2 |
| NCBI Gene ID | 302 ncbi.nlm.nih.gov/gene/302 |
| Ensembl ID | ENSG00000182718 |
| UniProt ID | P07355 |
| OMIM ID | 151740 |
| HGNC ID | 537 |
| Aliases | ANX2, ANX2L4, CAL1H, LIP2, P36, PAP-IV |
Description
The ANXA2 gene encodes annexin A2, a calcium-dependent phospholipid-binding protein. Annexin A2 is involved in various cellular processes including exocytosis, endocytosis, membrane organization, cell proliferation, and apoptosis. It exists as a monomer or as a heterotetramer with S100A10 (p11). ANXA2 is overexpressed in many cancers and plays roles in tumor progression, invasion, and metastasis. It also functions in fibrinolysis by acting as a co-receptor for plasminogen and tissue plasminogen activator on the cell surface.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of ANXA2 promotes tumor cell proliferation, invasion, and metastasis through regulation of plasmin generation and signaling pathways. | Numerous studies; COSMIC database lists ANXA2 as frequently altered in various cancers. |
| Antiphospholipid Syndrome (APS) | ANXA2 acts as a binding site for antiphospholipid antibodies on endothelial cells, contributing to thrombosis. | Clinical studies and experimental models. |
| Acute Promyelocytic Leukemia (APL) | ANXA2 is overexpressed on leukemic promyelocytes, increasing plasmin generation and contributing to bleeding diathesis. | Clinical observations and in vitro studies. |
| Pre-eclampsia | Altered ANXA2 expression in placental tissues may affect trophoblast invasion and vascular remodeling. | Case-control studies. |
| Alzheimer's Disease | ANXA2 is involved in amyloid-beta clearance and neuroinflammation; altered expression in brain tissues. | Neuropathological studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | High | High |
| Lung | High | High |
| Kidney | High | High |
| Thyroid | High | High |
| Adipose tissue | Medium | Medium |
| Liver | Medium | Medium |
| Brain | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical adenocarcinoma cell line; high ANXA2 expression. |
| A549 | High | Lung carcinoma cell line; high ANXA2 expression. |
| MCF7 | Medium | Breast adenocarcinoma cell line; moderate expression. |
| HepG2 | Medium | Hepatocellular carcinoma cell line; moderate expression. |
| K562 | Low | Chronic myelogenous leukemia cell line; low expression. |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of start codon; functional impact unknown. |
| c.77C>T (p.Pro26Leu) | Missense | Rare | Reported in ClinVar; clinical significance uncertain. |
| c.103G>A (p.Gly35Arg) | Missense | Rare | Reported in ClinVar; likely benign. |
| c.118A>G (p.Thr40Ala) | Missense | Rare | Reported in ClinVar; uncertain significance. |
| c.145C>T (p.Arg49Cys) | Missense | Rare | Reported in ClinVar; uncertain significance. |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations have been described for ANXA2 in human disease. Knockout models in mice show mild phenotypes, suggesting functional redundancy.
Gain of Function (GOF)
Gene amplification and overexpression are common in cancers, leading to increased protein levels and enhanced pro-tumorigenic functions. Specific gain-of-function mutations have not been identified.
Dominant Negative (DN)
No dominant-negative mutations have been reported for ANXA2.
View complete mutation data:
Gene Ontology (GO)
| • calcium-dependent phospholipid binding | • protein binding |
| • identical protein binding | • receptor binding |
| • actin binding | • RNA binding |
| • protein domain specific binding | • enzyme binding |
| • cell surface | • extracellular exosome |
| • cytoplasm | • nucleus |
| • plasma membrane | • cytoskeleton |
| • endoplasmic reticulum | • Golgi apparatus |
| • fibrinolysis | • angiogenesis |
| • cell proliferation | • apoptotic process |
| • response to calcium ion | • regulation of cell migration |
| • positive regulation of cell adhesion | • negative regulation of coagulation |
Pathways
• Plasminogen activating cascade
• Fibrinolysis
• Regulation of actin cytoskeleton
• VEGF signaling pathway
• p53 signaling pathway
• Apoptosis
• Cell adhesion molecules (CAMs)
Protein Summary
Annexin A2 is a 36 kDa protein that binds phospholipids in a calcium-dependent manner. It exists as a monomer or as a heterotetramer with S100A10. The protein contains four annexin repeats that form a conserved core domain, and an N-terminal domain that mediates interactions with other proteins. ANXA2 is localized to the plasma membrane, cytoplasm, nucleus, and extracellular space. It is involved in membrane trafficking, cytoskeletal dynamics, and signal transduction. On the cell surface, ANXA2 serves as a receptor for plasminogen and tissue plasminogen activator, facilitating plasmin generation and fibrinolysis. In cancer, ANXA2 promotes tumor invasion and metastasis by enhancing proteolysis and cell migration. It is also implicated in inflammatory responses and viral entry.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANXA2 Knockout HEK293 Cell Line | EDJ-KQ1029 | Human | 302 | Details Get a Quote |
| ANXA2R Knockout HEK293 Cell Line | EDJ-KQ12387 | Human | 389289 | Details Get a Quote |
| SPANXA2 Knockout HEK293 Cell Line | EDJ-KQ15430 | Human | 728712 | Details Get a Quote |
| ANXA2 Knockout A-549 Cell Line | EDJ-KQ20130 | Human | 302 | Details Get a Quote |
| ANXA2 Knockout HCT 116 Cell Line | EDJ-KQ20131 | Human | 302 | Details Get a Quote |
| ANXA2 Knockout HeLa Cell Line | EDJ-KQ20132 | Human | 302 | Details Get a Quote |
| ANXA2R Knockout A-549 Cell Line | EDJ-KQ41254 | Human | 389289 | Details Get a Quote |
| ANXA2R Knockout HeLa Cell Line | EDJ-KQ41255 | Human | 389289 | Details Get a Quote |
| SPANXA2 Knockout HeLa Cell Line | EDJ-KQ60721 | Human | 728712 | Details Get a Quote |
| SPANXA2 Knockout A-549 Cell Line | EDJ-KQ69191 | Human | 728712 | Details Get a Quote |
| ANXA2R Knockout HCT 116 Cell Line | EDJ-KQ76916 | Human | 389289 | Details Get a Quote |
| SPANXA2 Knockout HCT 116 Cell Line | EDJ-KQ77547 | Human | 728712 | Details Get a Quote |
Displaying Records 1 To 12 Of 12 Records