CALCOCO2

Calcium-binding and coiled-coil domain-containing protein 2 is a protein that in humans is encoded by the CALCOCO2 gene.^[3][4]

CALCOCO2
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 3VVV, 3VVW, 4GXL, 4HAN, 2MXP, 4XKL
Identifiers
Aliases	CALCOCO2, NDP52, calcium binding and coiled-coil domain 2
External IDs	OMIM: 604587; HomoloGene: 31339; GeneCards: CALCOCO2; OMA:CALCOCO2 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.32 Start 48,831,018 bp[1] End 48,866,522 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon gastric mucosa right lung epithelium of colon sural nerve left testis right testis rectum popliteal artery tibial arteries n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein homodimerization activity Cellular component cytoplasm perinuclear region of cytoplasm autophagosome autophagosome membrane cytoskeleton membrane cytoplasmic vesicle nucleus intracellular membrane-bounded organelle cytosol Biological process autophagy viral process positive regulation of autophagosome maturation response to interferon-gamma xenophagy Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10241 n/a Ensembl ENSG00000136436 n/a UniProt Q13137 n/a RefSeq (mRNA) NM_001261390 NM_001261391 NM_001261393 NM_001261395 NM_005831 n/a RefSeq (protein) NP_001248319 NP_001248320 NP_001248322 NP_001248324 NP_005822 n/a Location (UCSC) Chr 17: 48.83 – 48.87 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

The protein encoded by this gene is a subunit of nuclear domain 10 (ND10) bodies. ND10 bodies are nuclear domains appearing immunohistochemically as ten dots per nucleus. They are believed to be associated with the nuclear matrix on the basis of their resistance to nuclease digestion and salt extraction. ND10 proteins are removed from the nucleus by HSV-1 infection and may have a role in viral life cycles.^[4]

CALCOCO2 is an autophagy receptor, and loss of CALCOCO2 in human beta cells has been linked to autophagy-mediated altered insulin granule homeostasis. Thus, mutations in CALCOCO2 have been linked to type 2 diabetes risk.^[5]