CALCOCO2
Description
The CALCOCO2 (calcium binding and coiled-coil domain 2) is a protein-coding gene located on chromosome 17.
CALCOCO2, encoded by the CALCOCO2 gene, is a protein that forms a subunit of nuclear domain 10 (ND10) bodies. ND10 bodies are nuclear structures appearing as ten dots per nucleus and are thought to be linked to the nuclear matrix. CALCOCO2 is also an autophagy receptor, and its loss in human beta cells has been associated with autophagy-mediated alterations in insulin granule homeostasis. Mutations in CALCOCO2 have been linked to type 2 diabetes risk.
CALCOCO2 is a xenophagy-specific receptor involved in autophagy-mediated degradation of intracellular bacteria. It acts as an effector protein responding to galectin-sensed membrane damage, which restricts the proliferation of invading pathogens like Salmonella typhimurium upon entering the cytosol. CALCOCO2 targets LGALS8-associated bacteria for autophagy, initially orchestrating their delivery to autophagosomes and subsequently ensuring their degradation by regulating the maturation of pathogen-containing autophagosomes. Its interaction with MAP1LC3A, MAP1LC3B, and/or GABARAPL2 is crucial for targeting bacteria to autophagosomes, while interaction with MAP3LC3C is essential for regulating the maturation of pathogen-containing autophagosomes. Additionally, CALCOCO2 might play a role in ruffle formation, actin cytoskeleton organization, and negatively regulate constitutive secretion.
CALCOCO2 is also known as NDP52.
Associated Diseases
- coxopodopatellar syndrome
- Upington disease
- hip dysplasia, Beukes type
- autosomal recessive osteopetrosis 6
- osteopathia striata-pigmentary dermopathy-white forelock syndrome
- familial clubfoot due to 17q23.1q23.2 microduplication
- multiple epiphyseal dysplasia type 5
- auriculoosteodysplasia
