ANXA11: A Key Player in Sarcoidosis and Amyotrophic Lateral Sclerosis
Comprehensive genomic and proteomic overview of ANXA11, including its role in vesicle trafficking, disease associations, and mutation landscape.
Gene Information Card
| Symbol | ANXA11 |
|---|---|
| Full Name | Annexin A11 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.3 |
| NCBI Gene ID | 311 ncbi.nlm.nih.gov/gene/311 |
| Ensembl ID | ENSG00000122359 |
| UniProt ID | P50995 |
| OMIM ID | 602572 |
| HGNC ID | 535 |
| Aliases | ANX11, CAP-50, CAP50 |
Description
ANXA11 (Annexin A11) encodes a member of the annexin family of calcium-dependent phospholipid-binding proteins. The protein is involved in vesicle trafficking, cell division, and calcium signaling. Mutations in ANXA11 are associated with sarcoidosis and amyotrophic lateral sclerosis (ALS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sarcoidosis | Altered calcium-dependent membrane binding and vesicle trafficking in immune cells | OMIM 602572; ClinVar |
| Amyotrophic Lateral Sclerosis (ALS) | Gain-of-function mutations leading to protein aggregation and impaired RNA metabolism | OMIM 602572; ClinVar; COSMIC |
| Lung cancer | Somatic mutations and altered expression in adenocarcinoma | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 28.5 | High |
| Spleen | 22.3 | High |
| Lymph node | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Heart | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung adenocarcinoma) | 35.2 | High expression |
| HEK293 (embryonic kidney) | 20.1 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 15.6 | Moderate expression |
| Jurkat (T-cell leukemia) | 12.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.D40G | Missense | Rare (ALS) | Gain-of-function; increased aggregation propensity |
| p.P76S | Missense | Rare (ALS) | Gain-of-function; altered RNA binding |
| p.R346C | Missense | Somatic (lung cancer) | Unknown functional effect |
| p.G38R | Missense | Rare (sarcoidosis) | Loss-of-function; impaired vesicle trafficking |
Mutation functional classification
Loss of Function (LOF)
p.G38R in sarcoidosis impairs calcium-dependent membrane binding and vesicle trafficking.
Gain of Function (GOF)
p.D40G and p.P76S in ALS promote protein aggregation and aberrant RNA interactions.
Dominant Negative (DN)
Not reported for ANXA11.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent phospholipid binding (GO:0005544) | • vesicle-mediated transport (GO:0016192) |
| • cell division (GO:0051301) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Calcium signaling pathway (KEGG: hsa04020)
• Annexin pathway (Reactome: R-HSA-5663205)
Protein Summary
Annexin A11 is a 56 kDa protein that binds phospholipids in a calcium-dependent manner. It localizes to the cytoplasm and nucleus, and is involved in vesicle trafficking, cell cycle regulation, and RNA processing. Mutations in ANXA11 are linked to sarcoidosis and ALS, with distinct molecular mechanisms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANXA11 Knockout HEK293 Cell Line | EDJ-KQ4058 | Human | 311 | Details Get a Quote |
| ANXA11 Knockout A-549 Cell Line | EDJ-KQ26421 | Human | 311 | Details Get a Quote |
| ANXA11 Knockout HCT 116 Cell Line | EDJ-KQ26422 | Human | 311 | Details Get a Quote |
| ANXA11 Knockout HeLa Cell Line | EDJ-KQ26423 | Human | 311 | Details Get a Quote |
