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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RNASEH2A
ribonuclease H2 subunit A
Chromosome 19 · 19p13.13
NCBI Gene: 10535Ensembl: ENSG00000104889.8HGNC: HGNC:18518UniProt: O75792
61PubMed Papers
21Diseases
0Drugs
44Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mismatch repairRNA-DNA hybrid ribonuclease activityprotein bindingRNA catabolic processAicardi-Goutières syndromeAicardi-Goutieres syndrome 4Aicardi-Goutieres syndrometype 1 interferonopathy
✦AI Summary

RNASEH2A encodes the catalytic subunit of RNase H2, an endonuclease that removes RNA from RNA:DNA hybrids and excises single ribonucleotides from DNA 1. The enzyme plays critical roles in DNA replication through removal of lagging-strand Okazaki fragment RNA primers and participates in DNA damage repair processes 1. RNASEH2A is primarily associated with Aicardi-Goutières syndrome (AGS), a rare monogenic type I interferonopathy caused by biallelic RNASEH2A mutations that lead to self-nucleic acid accumulation and aberrant cytoplasmic nucleic acid sensing 2. Patients with RNASEH2A mutations present with encephalopathy, basal ganglia calcification, and elevated interferon-α levels, with mutations accounting for approximately 2-5% of AGS cases and showing higher mortality (34.3%) compared to other AGS genes 34. Beyond AGS, RNASEH2A downregulation during cellular senescence promotes inflammatory gene expression through genomic DNA fragmentation and nucleotide ligand accumulation, contributing to age-related pathologies and cancer progression 5. Additionally, RNASEH2A expression correlates with proliferation and apoptosis pathways in glioblastoma and renal cell carcinoma, making it a potential prognostic biomarker for cancer outcomes 67.

Sources cited
1
RNASEH2A mutations cause Aicardi-Goutières syndrome through self-nucleic acid accumulation triggering type I interferon overproduction
PMID: 37515439
2
RNASEH2A mutations associated with AGS phenotypes including encephalopathy, increased type I interferon activity, and high disability rates
PMID: 25604658
3
RNASEH2A biallelic mutations identified in AGS patients with correlation between genotype and mortality (34.3% for RNASEH2A mutations)
PMID: 17846997
4
RNaseH2A removes ribonucleotide monophosphates from genome; downregulation during senescence causes genomic DNA fragmentation and inflammatory gene expression
PMID: 36577784
5
RNaseH2A silencing impairs glioblastoma cell proliferation and increases apoptosis through regulation of IL-6 and FAS signaling pathways
PMID: 27176716
6
RNASEH2A overexpression correlates with poor survival in renal cell carcinomas and serves as prognostic biomarker component
PMID: 29843367
7
RNASEH2A is the catalytic subunit of RNase H2 trimer involved in DNA replication, telomere maintenance, DNA damage repair, and cell cycle regulation
PMID: 33805806
8
90% of AGS patients with RNASEH2A mutations have positive interferon signature; RNASEH2B mutations show different interferon pattern suggesting genetic heterogeneity
PMID: 24183309
Disease Associationsⓘ21
Aicardi-Goutières syndromeOpen Targets
0.80Strong
Aicardi-Goutieres syndrome 4Open Targets
0.76Strong
Aicardi-Goutieres syndromeOpen Targets
0.69Moderate
type 1 interferonopathyOpen Targets
0.46Moderate
RNASEH2A-related type 1 interferonopathyOpen Targets
0.45Moderate
genetic disorderOpen Targets
0.45Moderate
Intellectual disabilityOpen Targets
0.37Weak
cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.06Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.06Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.06Suggestive
essential thrombocythemiaOpen Targets
0.05Suggestive
ThrombocytopeniaOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
Aicardi-Goutieres syndrome 4UniProt
Pathogenic Variants44
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)Pathogenic
Aicardi-Goutieres syndrome 4|not provided|Aicardi Goutieres syndrome|RNASEH2A-related disorder|RNASEH2A-related type 1 interferonopathy
★★☆☆2026→ Residue 70
NM_006397.3(RNASEH2A):c.657G>A (p.Trp219Ter)Pathogenic
not provided|Aicardi-Goutieres syndrome 4
★★☆☆2025→ Residue 219
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)Likely pathogenic
Aicardi-Goutieres syndrome 4|Aicardi Goutieres syndrome|Inborn genetic diseases
★★☆☆2025→ Residue 235
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)Pathogenic
Aicardi-Goutieres syndrome 4|Aicardi Goutieres syndrome|not provided
★★☆☆2025→ Residue 23
NM_006397.3(RNASEH2A):c.589del (p.Glu197fs)Pathogenic
not provided|Aicardi-Goutieres syndrome 4
★★☆☆2025→ Residue 197
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)Pathogenic
not provided|Aicardi-Goutieres syndrome 4|Inborn genetic diseases|RNASEH2A-related disorder|Aicardi Goutieres syndrome
★★☆☆2025→ Residue 186
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)Pathogenic
Aicardi-Goutieres syndrome 4|Aicardi Goutieres syndrome|RNASEH2A-related disorder|not provided
★★☆☆2024→ Residue 186
NM_006397.3(RNASEH2A):c.199+1G>CLikely pathogenic
Aicardi-Goutieres syndrome 4
★★☆☆2024
NM_006397.3(RNASEH2A):c.238_241del (p.Phe80fs)Pathogenic
Aicardi-Goutieres syndrome 4
★☆☆☆2025→ Residue 80
NM_006397.3(RNASEH2A):c.403_406dup (p.Thr136fs)Pathogenic
Aicardi-Goutieres syndrome 4
★☆☆☆2025→ Residue 136
NM_006397.3(RNASEH2A):c.637+1G>ALikely pathogenic
Aicardi-Goutieres syndrome 4
★☆☆☆2025
NM_006397.3(RNASEH2A):c.577T>C (p.Trp193Arg)Likely pathogenic
Aicardi-Goutieres syndrome 4
★☆☆☆2025→ Residue 193
NM_006397.3(RNASEH2A):c.323+1G>TLikely pathogenic
Aicardi-Goutieres syndrome 4
★☆☆☆2024
NM_006397.3(RNASEH2A):c.205_208del (p.Lys69fs)Pathogenic
Aicardi-Goutieres syndrome 4
★☆☆☆2024→ Residue 69
NM_006397.3(RNASEH2A):c.762-2A>GLikely pathogenic
Aicardi-Goutieres syndrome 4
★☆☆☆2024
NM_006397.3(RNASEH2A):c.669_670del (p.Val224fs)Likely pathogenic
Aicardi-Goutieres syndrome 4
★☆☆☆2024→ Residue 224
NM_006397.3(RNASEH2A):c.127+1G>CLikely pathogenic
Aicardi-Goutieres syndrome 4
★☆☆☆2024
NM_006397.3(RNASEH2A):c.704G>C (p.Arg235Pro)Likely pathogenic
Aicardi-Goutieres syndrome 4
★☆☆☆2024→ Residue 235
NM_006397.3(RNASEH2A):c.590A>G (p.Glu197Gly)Likely pathogenic
Inborn genetic diseases
★☆☆☆2024→ Residue 197
NM_006397.3(RNASEH2A):c.447C>G (p.Tyr149Ter)Pathogenic
Aicardi-Goutieres syndrome 4
★☆☆☆2024→ Residue 149
View on ClinVar ↗
Related Genes
RFC4Protein interaction100%PCNAProtein interaction100%RFC3Protein interaction100%CDT1Protein interaction100%MCM2Protein interaction100%ORC1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
24%
Lung
20%
Liver
14%
Bone Marrow
1%
Heart
0%
Gene Interaction Network
Click a node to explore
RNASEH2ARFC4PCNARFC3CDT1MCM2ORC1
PROTEIN STRUCTURE
Preparing viewer…
PDB3PUF · 3.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.64–1.16]
RankingsWhere RNASEH2A stands among ~20K protein-coding genes
  • #7,604of 20,598
    Most Researched61
  • #1,445of 5,498
    Most Pathogenic Variants44
  • #12,166of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedRNASEH2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Aicardi-Goutières syndrome: A monogenic type I interferonopathy.
PMID: 37515439
Scand J Immunol · 2023
1.00
2
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
PMID: 25604658
Am J Med Genet A · 2015
0.90
3
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
PMID: 17846997
Am J Hum Genet · 2007
0.80
4
RNaseH2A downregulation drives inflammatory gene expression via genomic DNA fragmentation in senescent and cancer cells.
PMID: 36577784
Commun Biol · 2022
0.70
5
RNaseH2A is involved in human gliomagenesis through the regulation of cell proliferation and apoptosis.
PMID: 27176716
Oncol Rep · 2016
0.60