| Calcium Binding and Coiled-Coil Domain 2 | |
|---|---|
| Gene Symbol | CALCOCO2 |
| Full Name | Calcium Binding and Coiled-Coil Domain 2 |
| Chromosome | 17q25.1 |
| NCBI Gene ID | 10241 |
| OMIM | 604551 |
| Ensembl ID | ENSG00000136436 |
| UniProt ID | Q9BQB6 |
| Associated Diseases | Alzheimer's Disease, Parkinson's Disease, Inflammatory Disorders, Cancer |
{gene_symbol} is a member of the septin family of GTP-binding proteins involved in cytoskeleton organization and cell division.
{gene_symbol} (Septin {last_digit}) is a member of the septin family of GTP-binding proteins that play essential roles in cytoskeleton organization, cell division, and membrane dynamics. Septins are highly conserved GTPases that form hetero-oligomeric complexes and function as scaffolds and diffusion barriers in cellular compartments.
The septin family consists of 13 members in humans (SEPT1-SEPT12, SEPT14) that assemble into various higher-order structures including filaments, rings, and bundles. {gene_symbol} has been implicated in neurological disorders and neurodegenerative diseases.
CALCOCO2 encodes calcium binding and coiled-coil domain 2, also known as NDP52 (Nuclear Dot Protein 52). CALCOCO2 is a selective autophagy receptor that recognizes ubiquitinated pathogens and damaged organelles for autophagic degradation. It plays critical roles in xenophagy (autophagy of pathogens), mitophagy (autophagy of mitochondria), and aggrephagy (autophagy of protein aggregates). CALCOCO2 contains an LC3-interacting region (LIR) that enables its interaction with LC3/GABARAP proteins on autophagosomes.
Widely expressed with high expression in immune cells (macrophages, microglia) and epithelial cells. In the brain, CALCOCO2 is expressed in neurons and astrocytes, with particularly high expression in microglia where it plays important roles in清理 of pathogens and protein aggregates.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Alzheimer's Disease | Various | Risk factor | Impaired mitophagy, accumulation of damaged mitochondria |
| Parkinson's Disease | Various | Risk factor | Impaired mitophagy, alpha-synuclein clearance |
| Inflammatory Disorders | Various | Risk factor | Dysregulated xenophagy, altered immune response |
| Cancer | Varied expression | Context-dependent | Tumor suppressor or oncogenic depending on context |