Identity
HGNC
LOCATION
13q13.3
LOCUSID
ALIAS
CIP3,EAP2,OIP2,PCH1C,RRP43,Rrp43p,bA421P11.3,p9
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: 11340
MIM: 606019
HGNC: 17035
Ensembl: ENSG00000120699
Variants:
dbSNP: 11340
ClinVar: 11340
TCGA: ENSG00000120699
COSMIC: EXOSC8
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000120699 | ENST00000239893 | H7C5Z2 |
| ENSG00000120699 | ENST00000389704 | Q96B26 |
| ENSG00000120699 | ENST00000481013 | H7C581 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38017281 | 2024 | A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C. | 0 |
| 38017281 | 2024 | A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C. | 0 |
| 36348012 | 2022 | EXOSC8 promotes colorectal cancer tumorigenesis via regulating ribosome biogenesis-related processes. | 2 |
| 36348012 | 2022 | EXOSC8 promotes colorectal cancer tumorigenesis via regulating ribosome biogenesis-related processes. | 2 |
| 31548613 | 2020 | Comprehensive characterization of the rRNA metabolism-related genes in human cancer. | 33 |
| 31548613 | 2020 | Comprehensive characterization of the rRNA metabolism-related genes in human cancer. | 33 |
| 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 |
| 24989451 | 2014 | EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. | 70 |
| 24989451 | 2014 | EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. | 70 |
| 11929972 | 2002 | A protein subunit of human RNase P, Rpp14, and its interacting partner, OIP2, have 3'-->5' exoribonuclease activity. | 9 |
| 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 |
| 11929972 | 2002 | A protein subunit of human RNase P, Rpp14, and its interacting partner, OIP2, have 3'-->5' exoribonuclease activity. | 9 |
| 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
EXOSC8 (exosome component 8)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62954/exosc8-(exosome-component-8)
