RNASEH2B

Chr 13

ribonuclease H2 subunit B

Also known as: AGS2, DLEU8

NCBI Gene: 79621ENSG00000136104UniProt: Q5TBB1

RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAicardi-Goutieres syndrome 2

Clinical highlights

Gene-disease validity (ClinGen)
RNASEH2B-related type 1 interferonopathy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.25
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — RNASEH2B
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.76
OE 0.81 (0.54–1.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.24Z-score
OE missense 1.06 (0.93–1.21)
154 obs / 145.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.81 (0.54–1.25)
0≤0.351.4
Missense OE?1.06 (0.93–1.21)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 15 / 18.5Missense obs/exp: 154 / 145.9Syn Z: -0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RNASEH2B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients