ANXA4 Gene (Annexin A4)
Annexin A4: Structure, Function, and Clinical Relevance
Gene Information Card
| Symbol | ANXA4 |
|---|---|
| Full Name | Annexin A4 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 307 ncbi.nlm.nih.gov/gene/307 |
| Ensembl ID | ENSG00000169375 |
| UniProt ID | P09525 |
| OMIM ID | 106491 |
| HGNC ID | 542 |
| Aliases | ANX4, P32, PIG28, PP4-X, ZAP36, annexin IV |
Description
ANXA4 (annexin A4) is a member of the annexin family of calcium-dependent phospholipid-binding proteins. It is involved in membrane organization, exocytosis, ion channel regulation, and signal transduction. The protein is widely expressed and has been implicated in cancer progression, inflammation, and coagulation disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression promotes cell proliferation, invasion, and chemoresistance | COSMIC, PubMed |
| Inflammatory disorders | Modulates calcium signaling and phospholipase A2 activity | UniProt, PubMed |
| Preeclampsia | Altered expression in placental tissues | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 28.5 | High |
| Liver | 22.1 | High |
| Lung | 18.7 | Medium |
| Heart | 15.3 | Medium |
| Brain | 8.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 32.4 | High expression |
| HeLa | 25.1 | Moderate expression |
| A549 | 20.8 | Moderate expression |
| MCF7 | 18.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.01% | Unknown functional impact |
| c.456G>A (p.Val152Met) | Missense | <0.01% | Reported in COSMIC |
| c.789_791del (p.Lys264del) | In-frame deletion | <0.01% | Loss of calcium binding |
Mutation functional classification
Loss of Function (LOF)
Deletions affecting calcium-binding domains may impair membrane binding.
Gain of Function (GOF)
Missense mutations in the N-terminal domain may enhance pro-survival signaling.
Dominant Negative (DN)
Not well characterized; some truncations may interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding | • phospholipase inhibitor activity |
| • calcium ion binding | • negative regulation of coagulation |
| • exocytosis | • membrane organization |
Pathways
• Annexin pathway
• Calcium signaling pathway
• Phospholipase A2 inhibition pathway
Protein Summary
Annexin A4 is a 35.9 kDa protein composed of 319 amino acids. It contains four annexin repeats that mediate calcium-dependent binding to phospholipid membranes. The protein is predominantly cytosolic but translocates to membranes upon calcium elevation. It plays roles in vesicle trafficking, membrane repair, and regulation of ion channels. Post-translational modifications include phosphorylation and acetylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANXA4 Knockout HEK293 Cell Line | EDJ-KQ4055 | Human | 307 | Details Get a Quote |
| ANXA4 Knockout A-549 Cell Line | EDJ-KQ26414 | Human | 307 | Details Get a Quote |
| ANXA4 Knockout HCT 116 Cell Line | EDJ-KQ26415 | Human | 307 | Details Get a Quote |
| ANXA4 Knockout HeLa Cell Line | EDJ-KQ26416 | Human | 307 | Details Get a Quote |
