REXO4
RNA Exonuclease 4, a 3'-5' exoribonuclease involved in RNA processing and degradation
Gene Information Card
| Symbol | REXO4 |
|---|---|
| Full Name | RNA exonuclease 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.2 |
| NCBI Gene ID | 57109 ncbi.nlm.nih.gov/gene/57109 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q9GZQ8 |
| OMIM ID | 616830 |
| HGNC ID | 24685 |
| Aliases | XPMC2H, REX4, REXO4L, CGI-108 |
Description
REXO4 (RNA exonuclease 4) encodes a 3'-5' exoribonuclease that participates in the processing and degradation of various RNA species, including ribosomal RNA and small nucleolar RNAs. The protein localizes to the nucleolus and is involved in RNA surveillance and quality control pathways. REXO4 is evolutionarily conserved and plays a role in maintaining RNA homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Lymph node | 9.8 | Medium |
| Bone marrow | 8.5 | Low |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 10.5 | Medium expression |
| HepG2 | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional impact |
| c.100C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of exoribonuclease activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5' exoribonuclease activity | • RNA binding |
| • nucleolus | • RNA processing |
| • rRNA processing |
Pathways
• RNA degradation
• rRNA processing in the nucleus and cytosol
Protein Summary
REXO4 is a 3'-5' exoribonuclease that processes and degrades RNA substrates, primarily in the nucleolus. It is involved in the maturation of ribosomal RNA and the turnover of small nucleolar RNAs. The protein contains an exonuclease domain and is conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REXO4 Knockout HEK293 Cell Line | EDJ-KQ11947 | Human | 57109 | Details Get a Quote |
| REXO4 Knockout A-549 Cell Line | EDJ-KQ40466 | Human | 57109 | Details Get a Quote |
| REXO4 Knockout HCT 116 Cell Line | EDJ-KQ40467 | Human | 57109 | Details Get a Quote |
| REXO4 Knockout HeLa Cell Line | EDJ-KQ40468 | Human | 57109 | Details Get a Quote |
