Jump to content

CALCOCO2

From Wikipedia, the free encyclopedia

CALCOCO2
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesCALCOCO2, NDP52, calcium binding and coiled-coil domain 2
External IDsOMIM: 604587; HomoloGene: 31339; GeneCards: CALCOCO2; OMA:CALCOCO2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

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

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]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136436Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ Korioth F, Gieffers C, Maul GG, Frey J (July 1995). "Molecular characterization of NDP52, a novel protein of the nuclear domain 10, which is redistributed upon virus infection and interferon treatment". The Journal of Cell Biology. 130 (1): 1–13. doi:10.1083/jcb.130.1.1. PMC 2120522. PMID 7540613.
  4. ^ a b "Entrez Gene: CALCOCO2 calcium binding and coiled-coil domain 2".
  5. ^ Rottner AK, Ye Y, Navarro-Guerrero E, Rajesh V, Pollner A, Bevacqua RJ, et al. (December 2022). "A genome-wide CRISPR screen identifies CALCOCO2 as a regulator of beta cell function influencing type 2 diabetes risk". Nature Genetics. 55 (1): 54–65. doi:10.1038/s41588-022-01261-2. PMC 9839450. PMID 36543916.

Further reading

[edit]
[edit]