ANXA13: Annexin A13 Gene
Structural and functional insights into the ANXA13 gene, its protein product, associated diseases, and expression profiles.
Gene Information Card
| Symbol | ANXA13 |
|---|---|
| Full Name | Annexin A13 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.13 |
| NCBI Gene ID | 312 ncbi.nlm.nih.gov/gene/312 |
| Ensembl ID | ENSG00000104518 |
| UniProt ID | P27216 |
| OMIM ID | 603063 |
| HGNC ID | 536 |
| Aliases | ANX13, ISA, MGC116814 |
Description
ANXA13 (Annexin A13) is a protein-coding gene that belongs to the annexin family of calcium-dependent phospholipid-binding proteins. It is specifically expressed in intestinal epithelial cells and plays a role in membrane trafficking, cell division, and calcium signaling. Alternative splicing generates multiple transcript variants encoding distinct isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered expression of ANXA13 may affect cell proliferation and adhesion; overexpression observed in some tumors. | NCBI Gene, COSMIC |
| Inflammatory Bowel Disease | Dysregulation of ANXA13 in intestinal epithelium may contribute to barrier dysfunction. | NCBI Gene, OMIM |
| Pancreatic Cancer | ANXA13 expression changes reported in pancreatic ductal adenocarcinoma. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small Intestine | 48.2 | High |
| Colon | 35.1 | High |
| Duodenum | 52.0 | High |
| Rectum | 30.5 | Medium |
| Stomach | 12.3 | Low |
| Pancreas | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 45.6 | Colorectal adenocarcinoma cell line |
| HT-29 | 38.2 | Colorectal adenocarcinoma cell line |
| HCT 116 | 42.1 | Colorectal carcinoma cell line |
| SW480 | 33.5 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.451C>T (p.Arg151Trp) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.614A>G (p.Asn205Ser) | Missense | <0.01% | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding | • calcium ion binding |
| • phospholipid binding | • membrane organization |
| • cell division | • vesicle-mediated transport |
Pathways
• Annexin pathway (Reactome: R-HSA-5620912)
• Calcium signaling pathway (KEGG: hsa04020)
• Phospholipid binding and membrane trafficking (UniProt)
Protein Summary
Annexin A13 is a 316-amino acid protein (isoform 1) that binds calcium and phospholipids, localizing to the plasma membrane and endosomal compartments. It is involved in membrane fusion events, cell cycle regulation, and intestinal epithelial homeostasis. The protein contains four annexin repeats and a unique N-terminal domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANXA13 Knockout HEK293 Cell Line | EDJ-KQ3389 | Human | 312 | Details Get a Quote |
| ANXA13 Knockout A-549 Cell Line | EDJ-KQ26417 | Human | 312 | Details Get a Quote |
| ANXA13 Knockout HeLa Cell Line | EDJ-KQ52621 | Human | 312 | Details Get a Quote |
| ANXA13 Knockout HCT 116 Cell Line | EDJ-KQ69584 | Human | 312 | Details Get a Quote |
