ANXA6 Gene: Annexin A6 - Structure, Function, and Clinical Significance
A comprehensive overview of the ANXA6 gene, its protein product, expression patterns, associated diseases, and mutations.
Gene Information Card
| Symbol | ANXA6 |
|---|---|
| Full Name | Annexin A6 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.1 (GRCh38) |
| NCBI Gene ID | 309 ncbi.nlm.nih.gov/gene/309 |
| Ensembl ID | ENSG00000118762 |
| UniProt ID | P08133 |
| OMIM ID | 114070 |
| HGNC ID | 558 |
| Aliases | Annexin VI, p70, 67 kDa calelectrin, CPB-II, Annexin-6 |
Description
ANXA6 encodes annexin A6, a calcium-dependent phospholipid-binding protein. It is involved in membrane organization, vesicle trafficking, signal transduction, and regulation of cell growth and differentiation. The protein contains eight annexin repeat domains and a unique N-terminal region. ANXA6 is implicated in various cancers and cardiovascular diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ANXA6 expression affects cell proliferation, apoptosis, and metastasis through modulation of signaling pathways (e.g., EGFR, Ras). | COSMIC: altered expression in multiple cancer types; ClinVar: somatic variants reported. |
| Cardiovascular disease | ANXA6 is involved in calcium homeostasis and vascular smooth muscle contraction; altered expression may contribute to hypertension and atherosclerosis. | UniProt: functional studies; OMIM: no direct germline disease but implicated in pathways. |
| Hypercholesterolemia | ANXA6 interacts with LDL receptor and influences cholesterol trafficking; variants may affect lipid metabolism. | UniProt: protein interactions; ClinVar: rare variants of uncertain significance. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | nTPM: 50.1 | High |
| Skeletal Muscle | nTPM: 40.2 | High |
| Liver | nTPM: 30.5 | Medium |
| Brain | nTPM: 20.3 | Medium |
| Lung | nTPM: 15.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | nTPM: 25.0 | Cervical cancer cell line; moderate expression |
| A549 | nTPM: 18.5 | Lung carcinoma; low expression |
| HepG2 | nTPM: 35.2 | Hepatocellular carcinoma; high expression |
| MCF7 | nTPM: 22.4 | Breast cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Potential impact on protein stability; clinical significance unknown. |
| c.456_457insC (frameshift) | Insertion | Rare | Predicted loss-of-function; may lead to reduced protein levels. |
| c.789C>T (p.Arg263Trp) | Missense | 0.02% | Reported in ClinVar as variant of uncertain significance; may affect calcium binding. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein are likely to cause loss of function, leading to impaired membrane trafficking and calcium signaling.
Gain of Function (GOF)
No clear gain-of-function mutations have been documented; overexpression of wild-type ANXA6 in cancer may act as an oncogenic driver.
Dominant Negative (DN)
Some missense mutations in the annexin repeats may disrupt calcium binding and exert dominant-negative effects on the tetrameric complex.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • phospholipid binding |
| • membrane organization | • vesicle trafficking |
| • signal transduction | • regulation of cell growth |
| • apoptotic process | • response to calcium ion |
Pathways
• Calcium signaling pathway
• Vesicle-mediated transport
• EGFR signaling pathway
• Ras signaling pathway
• Cholesterol metabolism
Protein Summary
Annexin A6 is a 67 kDa protein composed of eight annexin repeats that bind phospholipids in a calcium-dependent manner. It is localized to the plasma membrane and endosomal compartments. The protein regulates membrane dynamics, endocytosis, and exocytosis. It also interacts with signaling molecules such as S100 proteins and GTPases, modulating cell proliferation and differentiation. ANXA6 is overexpressed in several cancers and may serve as a biomarker or therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANXA6 Knockout HEK293 Cell Line | EDJ-KQ17854 | Human | 309 | Details Get a Quote |
| ANXA6 Knockout A-549 Cell Line | EDJ-KQ21243 | Human | 309 | Details Get a Quote |
| ANXA6 Knockout HCT 116 Cell Line | EDJ-KQ22558 | Human | 309 | Details Get a Quote |
| ANXA6 Knockout HeLa Cell Line | EDJ-KQ22559 | Human | 309 | Details Get a Quote |
