RIOX2
Ribosomal Oxygenase 2
Gene Information Card
| Symbol | RIOX2 |
|---|---|
| Full Name | Ribosomal Oxygenase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 84864 ncbi.nlm.nih.gov/gene/84864 |
| Ensembl ID | ENSG00000163840 |
| UniProt ID | Q9H6W3 |
| OMIM ID | 611919 |
| HGNC ID | 18985 |
| Aliases | NO66, MAPJD, JMJD9, FLJ12529 |
Description
RIOX2 (Ribosomal Oxygenase 2) encodes a JmjC domain-containing protein that functions as a histone demethylase and ribosomal oxygenase. It specifically demethylates histone H3 lysine 4 (H3K4me3) and lysine 36 (H3K36me3), and also catalyzes hydroxylation of ribosomal proteins. The protein localizes to the nucleolus and is involved in ribosome biogenesis, chromatin regulation, and cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or mutation may alter histone methylation and ribosome function, promoting proliferation | COSMIC, literature |
| Intellectual disability (candidate) | De novo variants reported in neurodevelopmental cohorts | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney |
| HeLa | 8.7 | Cervical carcinoma |
| K562 | 7.3 | Leukemia |
| HepG2 | 6.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg98Trp | Missense | <0.1% | Unknown; reported in cancer |
| p.Gly412Arg | Missense | <0.1% | Unknown; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may reduce demethylase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • histone H3-methyl-lysine-4 demethylase activity | • histone H3-methyl-lysine-36 demethylase activity |
| • oxidoreductase activity | • nucleolus |
| • ribosome biogenesis | • chromatin organization |
Pathways
• Ribosome biogenesis
• Chromatin modification
Protein Summary
RIOX2 is a 641-amino acid protein containing a JmjC domain. It acts as a histone demethylase specific for H3K4me3 and H3K36me3, and also hydroxylates ribosomal proteins. It is predominantly nucleolar and participates in ribosome assembly and epigenetic regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIOX2 Knockout HEK293 Cell Line | EDJ-KQ15081 | Human | 84864 | Details Get a Quote |
| RIOX2 Knockout HeLa Cell Line | EDJ-KQ44407 | Human | 84864 | Details Get a Quote |
| RIOX2 Knockout A-549 Cell Line | EDJ-KQ18363 | Human | 84864 | Details Get a Quote |
| RIOX2 Knockout HCT 116 Cell Line | EDJ-KQ45650 | Human | 84864 | Details Get a Quote |
