ANXA9 (Annexin A9) Gene: Structure, Function, and Clinical Relevance
Comprehensive biomedical overview of the ANXA9 gene, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | ANXA9 |
|---|---|
| Full Name | Annexin A9 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 108 ncbi.nlm.nih.gov/gene/108 |
| Ensembl ID | ENSG00000134242 |
| UniProt ID | O76027 |
| OMIM ID | 603482 |
| HGNC ID | 543 |
| Aliases | ANX31, annexin-31, annexin A9 |
Description
ANXA9 (annexin A9) is a protein-coding gene located on chromosome 1q21.3. It belongs to the annexin family of calcium-dependent phospholipid-binding proteins. Annexin A9 is involved in membrane-related processes such as exocytosis, endocytosis, and signal transduction. The gene is expressed in various tissues and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Dysregulation of ANXA9 expression may influence tumor progression and metastasis through altered calcium signaling and membrane dynamics. | ClinVar, COSMIC |
| Colorectal cancer | ANXA9 overexpression has been observed in colorectal tumors; potential role in cell proliferation and adhesion. | NCBI Gene, COSMIC |
| Lung cancer | Altered ANXA9 expression levels reported in non-small cell lung cancer; may affect apoptotic pathways. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 15.1 | Medium |
| Prostate | 6.7 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 18.4 | High expression |
| MCF7 (breast adenocarcinoma) | 9.2 | Moderate expression |
| HT-29 (colorectal adenocarcinoma) | 22.1 | High expression |
| HepG2 (hepatocellular carcinoma) | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | 0.02% (gnomAD) | Unknown functional impact; reported in ClinVar |
| c.421C>T (p.Arg141Trp) | Missense | 0.01% (gnomAD) | Likely benign; no disease association confirmed |
| c.523_524insA (p.Thr175AsnfsTer2) | Frameshift insertion | Rare | Predicted loss-of-function; not validated in large cohorts |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertion c.523_524insA leads to premature termination, likely resulting in loss of annexin function.
Gain of Function (GOF)
No gain-of-function mutations reported for ANXA9.
Dominant Negative (DN)
No dominant-negative mutations described for ANXA9.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Annexin pathway (Reactome: R-HSA-5620912)
• Calcium signaling pathway (KEGG: hsa04020)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
Annexin A9 is a 345-amino acid protein (UniProt O76027) that binds calcium and phospholipids. It is involved in membrane organization, vesicle trafficking, and signal transduction. The protein is expressed in multiple tissues and is implicated in cancer biology, particularly in breast, colorectal, and lung cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANXA9 Knockout HEK293 Cell Line | EDJ-KQ6231 | Human | 8416 | Details Get a Quote |
| ANXA9 Knockout A-549 Cell Line | EDJ-KQ30073 | Human | 8416 | Details Get a Quote |
| ANXA9 Knockout HCT 116 Cell Line | EDJ-KQ30074 | Human | 8416 | Details Get a Quote |
| ANXA9 Knockout HeLa Cell Line | EDJ-KQ54902 | Human | 8416 | Details Get a Quote |
