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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RIOX2
ribosomal oxygenase 2
Chromosome 3 · 3q11.2
NCBI Gene: 84864Ensembl: ENSG00000170854.19HGNC: HGNC:19441UniProt: A0A6M8YDW1
94PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmnucleoluspeptidyl-histidine dioxygenase activityidentical protein bindingurinary tract obstructionneoplasmbreast cancerlung cancer
✦AI Summary

RIOX2 (ribosomal oxygenase 2) is a JmjC domain-containing enzyme with dual enzymatic activities 1. It functions as both a histone lysine demethylase, catalyzing demethylation of trimethylated lysine-9 on histone H3 (H3K9me3) to increase ribosomal RNA expression, and a ribosomal histidine hydroxylase that modifies 60S ribosomal protein L27a 2. These modifications suggest involvement in ribosome biogenesis and protein synthesis regulation, potentially supporting cell growth and survival 3. RIOX2 is significantly upregulated in multiple malignancies. In lung cancer, RIOX2 is highly expressed in both adenocarcinoma and squamous cell carcinoma, with expression negatively correlated to promoter methylation 4. High RIOX2 expression predicts poor overall survival in lung squamous cell carcinoma 5. In renal cell carcinoma, elevated RIOX2 expression associates with metastatic progression in clear cell subtype 6. Beyond cancer, RIOX2 has emerged as a candidate autosomal recessive Parkinson's disease gene, identified through analysis of AR-PD families 7, suggesting broader neurological significance. The enzyme's amenability to small-molecule inhibition positions it as a potential therapeutic target in cancer and neurodegenerative diseases 1.

Sources cited
1
RIOX2 is a small JMJD protein with histone demethylase and protein hydroxylase activities; discusses enzymatic versatility and roles in cancer
PMID: 31034925
2
RIOX2 (also called mdig/MINA53) is involved in histone demethylation and shows increased expression in lung cancer and other malignancies
PMID: 31276784
3
RIOX2 is highly expressed in lung adenocarcinoma and squamous cell carcinoma with expression negatively correlated to methylation
PMID: 34855761
4
High mdig/RIOX2 expression predicts poor overall survival in lung squamous cell carcinoma and is involved in lung carcinogenesis
PMID: 33423409
5
RIOX2 expression is elevated in renal cell tumors; higher RIOX2 levels associate with metastatic progression in clear cell renal cell carcinoma
PMID: 29099276
6
RIOX2 identified as a candidate autosomal recessive gene for Parkinson's disease through NGS analysis of AR-PD families
PMID: 40959972
7
RIOX2 modifies ribosomal proteins through histidine hydroxylation; conserved protein architecture suggests consistent enzymatic activity; involved in ribosome biogenesis
PMID: 29914368
Disease Associationsⓘ20
urinary tract obstructionOpen Targets
0.31Weak
neoplasmOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Weak
lung cancerOpen Targets
0.10Suggestive
cancerOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
glioblastomaOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.06Suggestive
COVID-19Open Targets
0.06Suggestive
triple-negative breast cancerOpen Targets
0.06Suggestive
asthmaOpen Targets
0.06Suggestive
isolated agammaglobulinemiaOpen Targets
0.06Suggestive
Pallister-Hall syndromeOpen Targets
0.05Suggestive
pulmonary fibrosisOpen Targets
0.04Suggestive
agammaglobulinemia 7, autosomal recessiveOpen Targets
0.04Suggestive
combined immunodeficiency due to moesin deficiencyOpen Targets
0.04Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RPL27AProtein interaction100%LRP4Protein interaction78%TYW5Protein interaction74%JMJD4Protein interaction71%MSL1Shared pathway50%HDGFL1Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Heart
88%
Ovary
86%
Lung
82%
Brain
74%
Bone Marrow
35%
Gene Interaction Network
Click a node to explore
RIOX2RPL27ALRP4TYW5JMJD4MSL1HDGFL1
PROTEIN STRUCTURE
Preparing viewer…
PDB4BXF · 2.05 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.98LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.54–0.98]
RankingsWhere RIOX2 stands among ~20K protein-coding genes
  • #5,101of 20,598
    Most Researched94 · top quartile
  • #9,315of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedRIOX2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The bioinformatics analysis of RIOX2 gene in lung adenocarcinoma and squamous cell carcinoma.
PMID: 34855761
PLoS One · 2021
1.00
2
Expanding the Autosomal Recessive Gene Spectrum of Parkinson's Disease: A Study within the CPD10KGP.
PMID: 40959972
Mov Disord · 2025
0.90
3
The small members of the JMJD protein family: Enzymatic jewels or jinxes?
PMID: 31034925
Biochim Biophys Acta Rev Cancer · 2019
0.80
4
New discoveries of mdig in the epigenetic regulation of cancers.
PMID: 31276784
Semin Cancer Biol · 2019
0.70
5
SETDB2 and RIOX2 are differentially expressed among renal cell tumor subtypes, associating with prognosis and metastization.
PMID: 29099276
Epigenetics · 2017
0.60