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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RNASEH2C
ribonuclease H2 subunit C
Chromosome 11 · 11q13.1
NCBI Gene: 84153Ensembl: ENSG00000172922.12HGNC: HGNC:24116UniProt: Q8TDP1
34PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA catabolic processribonuclease H2 complexmismatch repairAicardi-Goutières syndromeAicardi-Goutieres syndrome 3Aicardi-Goutieres syndrometype 1 interferonopathy
✦AI Summary

RNASEH2C encodes the non-catalytic C subunit of the heterotrimeric RNase H2 endonuclease complex, which specifically degrades RNA in RNA:DNA hybrids 1. The protein forms a soluble complex with RNASEH2B that serves as a nucleation site for assembly with the catalytic RNASEH2A subunit to create active RNase H2 enzyme 1. This complex functions processively to hydrolyze various RNA/DNA substrates, likely participating in DNA replication by removing Okazaki fragment RNA primers 1. Mutations in RNASEH2C cause Aicardi-Goutières syndrome type 3 (AGS3), a severe inflammatory encephalopathy characterized by brain calcification, leukoencephalopathy, and elevated type I interferon levels 23. Most AGS-associated RNASEH2C mutations are missense variants, with one founder mutation identified in Pakistani families 3. Interestingly, most AGS-related RNASEH2C mutations retain near-normal enzymatic activity, suggesting the pathogenic mechanism involves functions beyond nuclease activity 1. Recent evidence indicates RNASEH2C may have additional non-enzymatic roles in immune regulation and cancer metastasis, potentially through effects on antigen presentation and adaptive immunity 45. AGS patients consistently show elevated interferon signatures that correlate with disease severity 6.

Sources cited
1
RNASEH2C forms heterotrimeric RNase H2 complex, functions processively, and AGS mutations retain near-normal activity
PMID: 19015152
2
RNASEH2C mutations cause Aicardi-Goutières syndrome with elevated interferon levels
PMID: 37515439
3
Most RNASEH2C mutations are missense with founder mutation in Pakistani families
PMID: 17846997
4
AGS patients show elevated interferon signatures correlating with disease severity
PMID: 24183309
5
RNASEH2C has non-enzymatic roles in cancer metastasis and immune regulation
PMID: 31125342
6
RNASEH2C affects macrophage antigen presentation through RAI14 degradation
PMID: 41361104
Disease Associationsⓘ21
Aicardi-Goutières syndromeOpen Targets
0.80Strong
Aicardi-Goutieres syndrome 3Open Targets
0.75Strong
Aicardi-Goutieres syndromeOpen Targets
0.65Moderate
type 1 interferonopathyOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.41Moderate
neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesOpen Targets
0.39Weak
Intellectual disabilityOpen Targets
0.37Weak
RNASEH2C-related type 1 interferonopathyOpen Targets
0.37Weak
Abnormality of the nervous systemOpen Targets
0.34Weak
goutOpen Targets
0.16Weak
asthmaOpen Targets
0.12Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
Epidermal Inclusion CystOpen Targets
0.11Weak
chronic kidney diseaseOpen Targets
0.11Weak
kidney failureOpen Targets
0.09Suggestive
heart diseaseOpen Targets
0.09Suggestive
angina pectorisOpen Targets
0.07Suggestive
developmental dysplasia of the hipOpen Targets
0.07Suggestive
osteoarthritis, hipOpen Targets
0.07Suggestive
Crohn's diseaseOpen Targets
0.05Suggestive
Aicardi-Goutieres syndrome 3UniProt
Pathogenic Variants6
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)Pathogenic
Aicardi-Goutieres syndrome 3|not provided|Aicardi Goutieres syndrome|Abnormality of the nervous system
★★☆☆2025→ Residue 69
NM_032193.4(RNASEH2C):c.450G>A (p.Trp150Ter)Likely pathogenic
not provided
★☆☆☆2021→ Residue 150
NM_032193.4(RNASEH2C):c.412C>T (p.Pro138Ser)Likely pathogenic
Aicardi-Goutieres syndrome 3
★☆☆☆2021→ Residue 138
NM_032193.4(RNASEH2C):c.478C>T (p.Gln160Ter)Likely pathogenic
not provided
★☆☆☆→ Residue 160
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys)Likely pathogenic
Aicardi-Goutieres syndrome 3
★☆☆☆→ Residue 150
NM_032193.4(RNASEH2C):c.102C>A (p.Cys34Ter)Likely pathogenic
RNASEH2C-related disorder
☆☆☆☆2024→ Residue 34
View on ClinVar ↗
Related Genes
ADARProtein interaction100%RNASEH2BProtein interaction88%TREX1Protein interaction77%SAMHD1Protein interaction77%RNASEH2AProtein interaction75%RBM26Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
73%
Liver
44%
Lung
42%
Heart
35%
Brain
28%
Gene Interaction Network
Click a node to explore
RNASEH2CADARRNASEH2BTREX1SAMHD1RNASEH2ARBM26
PROTEIN STRUCTURE
Preparing viewer…
PDB3PUF · 3.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.24 [0.87–1.75]
RankingsWhere RNASEH2C stands among ~20K protein-coding genes
  • #11,225of 20,598
    Most Researched34
  • #3,422of 5,498
    Most Pathogenic Variants6
  • #16,363of 17,882
    Most Constrained (LOEUF)1.75
Genes detectedRNASEH2C
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
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
PMID: 24183309
Lancet Neurol · 2013
0.70
5
RNASEH2C enhances TRAF3IP1 to degrade RAI14 in lysosomes thus hindering macrophage antigen presentation and advancing liver cancer.
PMID: 41361104
Cell Death Dis · 2025
0.60