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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RNASEH2B
ribonuclease H2 subunit B
Chromosome 13 · 13q14.3
NCBI Gene: 79621Ensembl: ENSG00000136104.22HGNC: HGNC:25671UniProt: A0A087WXR7
47PubMed Papers
21Diseases
0Drugs
55Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmRNA catabolic processprotein bindingribonuclease H2 complexAicardi-Goutières syndromeAicardi-Goutieres syndrome 2Aicardi-Goutieres syndromeAbnormality of the skeletal system
✦AI Summary

RNASEH2B encodes a non-catalytic subunit of ribonuclease H2, an endonuclease complex that degrades RNA in RNA:DNA hybrids and removes ribonucleotides from genomic DNA 1. The protein functions in DNA replication by facilitating removal of Okazaki fragment RNA primers and participates in ribonucleotide excision repair 1. Loss of RNASEH2B function leads to accumulation of genomic ribonucleotides, which become substrates for topoisomerase 1 cleavage, resulting in PARP-trapping DNA lesions that impede replication 1. Mutations in RNASEH2B cause Aicardi-Goutières syndrome type 2 (AGS2), a severe inflammatory encephalopathy characterized by interferon overproduction due to cytosolic nucleic acid accumulation 23. Patients with RNASEH2B mutations typically present with later disease onset and better neurological preservation compared to other AGS subtypes, with lower mortality rates (8.0% vs 34.3%) 4. The protein loss creates therapeutic vulnerabilities, as RNASEH2B-deficient cells show hypersensitivity to PARP inhibitors, potentially exploitable in cancers with RNASEH2B deletions 15. Clinical diagnosis can be supported by elevated interferon-stimulated gene expression, though patients with RNASEH2B mutations may show negative interferon signatures in some cases 6.

Sources cited
1
RNASEH2B encodes a ribonuclease H2 subunit involved in ribonucleotide excision repair and PARP inhibitor sensitivity
PMID: 29973717
2
RNASEH2B mutations cause Aicardi-Goutières syndrome through interferon overproduction
PMID: 37515439
3
AGS patients show increased interferon activity and substantial morbidity/mortality
PMID: 25604658
4
RNASEH2B mutations associated with later onset and better prognosis in AGS
PMID: 17846997
5
RNASEH2B loss in prostate cancer creates vulnerability to PARP inhibition
PMID: 38833311
6
AGS patients have elevated interferon signatures, though some RNASEH2B patients may be negative
PMID: 24183309
Disease Associationsⓘ21
Aicardi-Goutières syndromeOpen Targets
0.81Strong
Aicardi-Goutieres syndrome 2Open Targets
0.77Strong
Aicardi-Goutieres syndromeOpen Targets
0.65Moderate
Abnormality of the skeletal systemOpen Targets
0.52Moderate
benign prostatic hyperplasiaOpen Targets
0.50Moderate
hereditary spastic paraplegiaOpen Targets
0.43Moderate
type 1 interferonopathyOpen Targets
0.37Weak
autism spectrum disorderOpen Targets
0.37Weak
RNASEH2B-related type 1 interferonopathyOpen Targets
0.37Weak
male reproductive organ cancerOpen Targets
0.35Weak
Abnormality of the nervous systemOpen Targets
0.34Weak
genetic disorderOpen Targets
0.34Weak
Urinary retentionOpen Targets
0.33Weak
cerebral palsyOpen Targets
0.33Weak
prostate carcinomaOpen Targets
0.32Weak
upper respiratory tract disorderOpen Targets
0.28Weak
biliary tract diseaseOpen Targets
0.28Weak
lymphatic system diseaseOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.20Weak
Global developmental delayOpen Targets
0.12Weak
Aicardi-Goutieres syndrome 2UniProt
Pathogenic Variants55
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)Pathogenic
Aicardi-Goutieres syndrome 2|Aicardi Goutieres syndrome|not provided|Abnormality of the nervous system|Inborn genetic diseases|Hereditary spastic paraplegia|Cerebral palsy|Autism spectrum disorder|RNASEH2B-related disorder
★★☆☆2026→ Residue 177
NM_024570.4(RNASEH2B):c.65-13G>APathogenic
not provided|Aicardi-Goutieres syndrome 2
★★☆☆2026
NM_024570.4(RNASEH2B):c.510+1G>APathogenic
Aicardi-Goutieres syndrome 2|not provided
★★☆☆2026
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter)Pathogenic
Aicardi-Goutieres syndrome 2
★★☆☆2026→ Residue 58
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter)Pathogenic
Aicardi-Goutieres syndrome 2|Aicardi Goutieres syndrome
★★☆☆2026→ Residue 111
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg)Likely pathogenic
Aicardi-Goutieres syndrome 2|Aicardi Goutieres syndrome|not provided
★★☆☆2025→ Residue 60
NM_024570.4(RNASEH2B):c.136+1delPathogenic
Aicardi-Goutieres syndrome 2|not provided|RNASEH2B-related disorder|Aicardi Goutieres syndrome|Papillary renal cell carcinoma type 1
★★☆☆2025
NM_024570.4(RNASEH2B):c.488C>T (p.Thr163Ile)Pathogenic
Aicardi-Goutieres syndrome 2
★★☆☆2025→ Residue 163
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)Pathogenic
Aicardi-Goutieres syndrome 2|not provided
★★☆☆2025→ Residue 185
NM_024570.4(RNASEH2B):c.437-1G>APathogenic
not provided|Aicardi-Goutieres syndrome 2
★★☆☆2025
NM_024570.4(RNASEH2B):c.510+1delPathogenic
Aicardi-Goutieres syndrome 2
★★☆☆2025
NM_024570.4(RNASEH2B):c.322-2A>TLikely pathogenic
Aicardi-Goutieres syndrome 2
★★☆☆2025
NM_024570.4(RNASEH2B):c.509dup (p.Val171fs)Pathogenic
Aicardi-Goutieres syndrome 2
★★☆☆2025→ Residue 171
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)Pathogenic
Aicardi-Goutieres syndrome 2
★★☆☆2025→ Residue 240
NM_024570.4(RNASEH2B):c.511-1G>APathogenic
Aicardi-Goutieres syndrome 2
★★☆☆2025
NM_024570.4(RNASEH2B):c.322-3C>GLikely pathogenic
not provided|Aicardi-Goutieres syndrome 2
★★☆☆2025
NM_024570.4(RNASEH2B):c.468C>G (p.Tyr156Ter)Pathogenic
Aicardi-Goutieres syndrome 2
★★☆☆2024→ Residue 156
NM_024570.4(RNASEH2B):c.132T>A (p.Cys44Ter)Pathogenic
Aicardi-Goutieres syndrome 2
★★☆☆2024→ Residue 44
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)Pathogenic
not provided|Aicardi-Goutieres syndrome 2|Aicardi-Goutieres syndrome 1
★★☆☆2024→ Residue 119
NM_024570.4(RNASEH2B):c.698+1G>ALikely pathogenic
not provided|Aicardi Goutieres syndrome|Aicardi-Goutieres syndrome 2
★★☆☆2024
View on ClinVar ↗
Related Genes
ADARProtein interaction100%PCNAProtein interaction94%FEN1Protein interaction90%RNASEH2CProtein interaction88%TREX1Protein interaction80%SAMHD1Protein interaction77%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
23%
Ovary
18%
Lung
18%
Brain
16%
Liver
9%
Gene Interaction Network
Click a node to explore
RNASEH2BADARPCNAFEN1RNASEH2CTREX1SAMHD1
PROTEIN STRUCTURE
Preparing viewer…
PDB3P87 · 2.99 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.40LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.51–1.40]
RankingsWhere RNASEH2B stands among ~20K protein-coding genes
  • #9,268of 20,598
    Most Researched47
  • #1,246of 5,498
    Most Pathogenic Variants55 · top quartile
  • #14,514of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedRNASEH2B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ARID1A suppresses R-loop-mediated STING-type I interferon pathway activation of anti-tumor immunity.
PMID: 38754421
Cell · 2024
1.00
2
Aicardi-Goutières syndrome: A monogenic type I interferonopathy.
PMID: 37515439
Scand J Immunol · 2023
0.90
3
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
0.80
4
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
PMID: 17846997
Am J Hum Genet · 2007
0.70
5
CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.
PMID: 29973717
Nature · 2018
0.60