Identity
HGNC
LOCATION
9p13.2
LOCUSID
ALIAS
CGI-102,PCH1B,RRP40,Rrp40p,bA3J10.7,hRrp-40,p10
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: 51010
MIM: 606489
HGNC: 17944
Ensembl: ENSG00000107371
Variants:
dbSNP: 51010
ClinVar: 51010
TCGA: ENSG00000107371
COSMIC: EXOSC3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000107371 | ENST00000327304 | Q9NQT5 |
| ENSG00000107371 | ENST00000396521 | Q9NQT5 |
| ENSG00000107371 | ENST00000465229 | Q9NQT5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35522339 | 2022 | Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation. | 4 |
| 35522339 | 2022 | Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation. | 4 |
| 33462000 | 2021 | Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form. | 2 |
| 34626022 | 2021 | Aberrant expression of MYD88 via RNA-controlling CNOT4 and EXOSC3 in colonic mucosa impacts generation of colonic cancer. | 3 |
| 33462000 | 2021 | Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form. | 2 |
| 34626022 | 2021 | Aberrant expression of MYD88 via RNA-controlling CNOT4 and EXOSC3 in colonic mucosa impacts generation of colonic cancer. | 3 |
| 32645003 | 2020 | A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons. | 10 |
| 32645003 | 2020 | A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons. | 10 |
| 28053271 | 2017 | Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae. | 21 |
| 28687512 | 2017 | Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. | 15 |
| 28053271 | 2017 | Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae. | 21 |
| 28687512 | 2017 | Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. | 15 |
| 27193168 | 2016 | Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. | 26 |
| 27193168 | 2016 | Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. | 26 |
| 24524299 | 2014 | EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. | 40 |
Citation
Dessen P
EXOSC3 (exosome component 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62951/exosc3-(exosome-component-3)
