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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RNASET2
ribonuclease T2
Chromosome 6 Β· 6q27
NCBI Gene: 8635Ensembl: ENSG00000026297.18HGNC: HGNC:21686UniProt: O00584
74PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615extracellular exosomeribonuclease T2 activityRNA catabolic processcystic leukoencephalopathy without megalencephalyhypothyroidismbasal cell carcinomathyroid disease
✦AI Summary

RNASET2 is a secreted ribonuclease with dual roles in innate immunity and cancer suppression. As a ribonuclease, it cleaves single-stranded RNA preferentially between purine and uridine residues, generating degradation products including purine-2',3'-cyclophosphate-terminated oligoribonucleotides and 2',3'-cyclic guanosine monophosphate 12. These products activate toll-like receptors TLR8 and TLR7, triggering innate immune responses 12. RNASET2 also degrades mitochondrial RNA and processes cytosolic non-coding RNAs imported into mitochondria 34. Beyond its enzymatic function, RNASET2 acts as an oncosuppressor, suppressing tumor growth and metastasis in ovarian cancer through mechanisms independent of ribonuclease catalytic activity 5. It functions as an alarmin-like molecule, promoting M1-polarized macrophage recruitment and activation while suppressing pro-tumoral M2 polarization 67. However, RNASET2 demonstrates context-dependent roles: elevated plasma RNASET2 levels associate with increased lung adenocarcinoma and prostate cancer risk 89, while upregulation in renal cell carcinoma predicts poor prognosis 10. These findings suggest RNASET2 has pleiotropic, cell-type and cancer-type-specific effects warranting careful therapeutic consideration.

Sources cited
1
RNASET2 cleaves single-stranded RNA and generates degradation products that activate TLR8-mediated innate immune response
PMID: 31778653
2
RNASET2 generates 2',3'-cyclic guanosine monophosphate (2',3'-cGMP) stimulatory ligand for TLR7 in plasmacytoid dendritic cells
PMID: 38697119
3
RNASET2 plays a key role in degradation of mitochondrial RNA
PMID: 28730546
4
RNASET2 processes non-coding RNA imported from cytosol into mitochondria
PMID: 30184494
5
RNASET2 suppresses tumorigenesis and metastasis independent of ribonuclease catalytic activity
PMID: 15809705
6
RNASET2 establishes functional crosstalk between ovarian cancer cells and macrophages, promoting M1-polarized antitumoral macrophage recruitment
PMID: 36012339
7
RNASET2 acts as an alarmin-like molecule affecting prostate cancer through cell-autonomous and non-cell autonomous mechanisms, promoting M1-like macrophage polarization
PMID: 40389981
8
Increased RNASET2 plasma levels are causally associated with increased lung adenocarcinoma risk (OR 1.15)
PMID: 38576019
9
RNASET2 is identified as a candidate gene in lung cancer susceptibility loci through eQTL analysis
PMID: 28604730
10
RNASET2 is significantly upregulated in clear cell renal cell carcinoma, predicting poor prognosis
PMID: 37679715
Disease Associationsβ“˜21
cystic leukoencephalopathy without megalencephalyOpen Targets
0.80Strong
hypothyroidismOpen Targets
0.56Moderate
basal cell carcinomaOpen Targets
0.53Moderate
thyroid diseaseOpen Targets
0.51Moderate
myxedemaOpen Targets
0.46Moderate
rheumatoid arthritisOpen Targets
0.44Moderate
non-melanoma skin carcinomaOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
autoimmune thyroid diseaseOpen Targets
0.41Moderate
Crohn's diseaseOpen Targets
0.40Moderate
inflammatory bowel diseaseOpen Targets
0.40Moderate
autoimmune diseaseOpen Targets
0.40Weak
VitiligoOpen Targets
0.37Weak
skin cancerOpen Targets
0.35Weak
lung cancerOpen Targets
0.34Weak
Hashimoto's thyroiditisOpen Targets
0.33Weak
skin neoplasmOpen Targets
0.32Weak
skin diseaseOpen Targets
0.32Weak
psoriasisOpen Targets
0.32Weak
BlindnessOpen Targets
0.31Weak
Leukoencephalopathy, cystic, without megalencephalyUniProt
Pathogenic Variants11
NM_003730.6(RNASET2):c.332+1G>TPathogenic
Cystic leukoencephalopathy without megalencephaly
β˜…β˜…β˜†β˜†2025
NM_003730.6(RNASET2):c.154C>T (p.Gln52Ter)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 52
NM_003730.6(RNASET2):c.291G>A (p.Trp97Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 97
NM_003730.6(RNASET2):c.550T>C (p.Cys184Arg)Pathogenic
Cystic leukoencephalopathy without megalencephaly
β˜…β˜†β˜†β˜†2025β†’ Residue 184
NM_003730.6(RNASET2):c.195_198del (p.Gly66fs)Likely pathogenic
Cystic leukoencephalopathy without megalencephaly
β˜…β˜†β˜†β˜†2023β†’ Residue 66
NM_003730.6(RNASET2):c.148-1G>TLikely pathogenic
Cystic leukoencephalopathy without megalencephaly
β˜…β˜†β˜†β˜†2020
NM_003730.6(RNASET2):c.233C>A (p.Ser78Ter)Pathogenic
Cystic leukoencephalopathy without megalencephaly
β˜…β˜†β˜†β˜†2018β†’ Residue 78
NM_003730.6(RNASET2):c.50_64del (p.Ala17_Leu21del)Pathogenic
Cystic leukoencephalopathy without megalencephaly
β˜†β˜†β˜†β˜†2009β†’ Residue 17
NM_003730.6(RNASET2):c.332+1delPathogenic
Cystic leukoencephalopathy without megalencephaly
β˜†β˜†β˜†β˜†2009
NM_003730.6(RNASET2):c.262-2A>GPathogenic
Cystic leukoencephalopathy without megalencephaly
β˜†β˜†β˜†β˜†2009
NM_003730.6(RNASET2):c.87-1341_147+1181delPathogenic
Cystic leukoencephalopathy without megalencephaly
β˜†β˜†β˜†β˜†2009
View on ClinVar β†—
Related Genes
CEP43Protein interaction89%RNASE6Protein interaction88%ANGProtein interaction82%RNASE2Protein interaction82%RNASE1Protein interaction77%DEFB131BShared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
57%
Ovary
42%
Liver
30%
Brain
22%
Heart
14%
Gene Interaction Network
Click a node to explore
RNASET2CEP43RNASE6ANGRNASE2RNASE1DEFB131B
PROTEIN STRUCTURE
Preparing viewer…
PDB3T0O Β· 1.59 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.22LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.44–1.22]
RankingsWhere RNASET2 stands among ~20K protein-coding genes
  • #6,427of 20,598
    Most Researched74
  • #2,760of 5,498
    Most Pathogenic Variants11
  • #12,888of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedRNASET2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human RNASET2: A Highly Pleiotropic and Evolutionary Conserved Tumor Suppressor Gene Involved in the Control of Ovarian Cancer Pathogenesis.
PMID: 36012339
Int J Mol Sci Β· 2022
1.00
2
Systematic proteome-wide Mendelian randomization using the human plasma proteome to identify therapeutic targets for lung adenocarcinoma.
PMID: 38576019
J Transl Med Β· 2024
0.90
3
Innate Immune Response Regulation by the Human
PMID: 31749812
Front Immunol Β· 2019
0.80
4
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
PMID: 28604730
Nat Genet Β· 2017
0.70
5
The human RNASET2 alarmin-like molecule differentially affects prostate cancer cells behavior in both cell autonomous and non-cell autonomous manners.
PMID: 40389981
J Transl Med Β· 2025
0.60