Identity
HGNC
LOCATION
9q34.12
LOCUSID
ALIAS
RRP4,Rrp4p,SHRF,hRrp4p,p7
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23404
MIM: 602238
HGNC: 17097
Ensembl: ENSG00000130713
Variants:
dbSNP: 23404
ClinVar: 23404
TCGA: ENSG00000130713
COSMIC: EXOSC2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36241425 | 2023 | Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication. | 4 |
| 36241425 | 2023 | Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication. | 4 |
| 34162742 | 2021 | A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex. | 3 |
| 34162742 | 2021 | A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex. | 3 |
| 31628467 | 2020 | Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis. | 14 |
| 31628467 | 2020 | Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis. | 14 |
| 26843489 | 2016 | Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. | 43 |
| 26843489 | 2016 | Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. | 43 |
| 17545563 | 2007 | Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways. | 48 |
| 17545563 | 2007 | Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways. | 48 |
| 12419256 | 2002 | Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. | 28 |
| 12419256 | 2002 | Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. | 28 |
Citation
Dessen P
EXOSC2 (exosome component 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62950/exosc2-(exosome-component-2)
