EXOSC6
Exosome Component 6
Gene Information Card
| Symbol | EXOSC6 |
|---|---|
| Full Name | Exosome Component 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 118460 ncbi.nlm.nih.gov/gene/118460 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q5RKV6 |
| OMIM ID | 606491 |
| HGNC ID | 17062 |
| Aliases | RRP42, hRrp42p, p11, EXOSC6 |
Description
EXOSC6 encodes a core component of the RNA exosome complex, a multi-protein complex responsible for 3'→5' exoribonucleolytic degradation and processing of various RNA species, including mRNA, rRNA, and non-coding RNAs. The protein is essential for RNA surveillance and turnover.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar Hypoplasia Type 1F | Loss-of-function mutations in EXOSC6 impair RNA exosome function, leading to defective RNA processing and neurodegeneration | ClinVar, OMIM |
| Neurodevelopmental Disorder with Motor and Speech Delay | Biallelic EXOSC6 variants cause developmental delay, hypotonia, and speech impairment | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 5.4 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; predicted to cause nonsense-mediated decay |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Likely damaging; disrupts protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated or absent protein, associated with pontocerebellar hypoplasia.
Gain of Function (GOF)
No evidence of gain-of-function mutations in EXOSC6.
Dominant Negative (DN)
Not reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • RNA exosome complex | • 3'-5' exoribonuclease activity |
| • RNA processing | • nuclear exosome (RNase complex) |
| • cytoplasmic exosome (RNase complex) |
Pathways
• RNA degradation
• rRNA processing
• mRNA surveillance
Protein Summary
EXOSC6 is a 272-amino acid protein that forms part of the catalytic core of the RNA exosome. It interacts with other exosome subunits to mediate RNA decay and processing. The protein is highly conserved across eukaryotes and is essential for cellular RNA homeostasis.
Related Services
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|---|---|---|---|---|
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