| RNASEH2B — Ribonuclease H2 Subunit B | |
|---|---|
| Symbol | RNASEH2B |
| Full Name | Ribonuclease H2 Subunit B |
| Chromosome | 13q14.13 |
| NCBI Gene | 79684 |
| Ensembl | ENSG00000137713 |
| OMIM | 610296 |
| UniProt | Q9Y2Q9 |
| Diseases | Aicardi-Goutières Syndrome |
| Expression | Ubiquitously expressed; high expression in brain, testis, thyroid |
RNASEH2B (Ribonuclease H2 Subunit B) is a gene located on chromosome 13q14.13 that encodes a non-catalytic subunit of the RNase H2 complex. Together with RNASEH2A (catalytic subunit) and RNASEH2C, RNASEH2B forms the heterotrimeric RNase H2 enzyme essential for DNA repair and genome stability. Mutations in RNASEH2B cause Aicardi-Goutières syndrome (AGS), a severe neurodevelopmental disorder characterized by early-onset encephalopathy and elevated interferon signature [1][2].
The RNASEH2B gene spans approximately 35 kb and consists of 14 exons. The gene encodes a 517-amino acid protein that serves as a scaffold for the RNase H2 complex.
RNase H2 is a heterotrimeric complex:
RNASEH2B is the largest subunit and is essential for proper complex formation and cellular localization.
RNASEH2B contains:
RNASEH2B mutations account for approximately 40% of AGS cases, making it the most common genetic cause. Clinical features include:
Common pathogenic variants:
Patients with RNASEH2B mutations typically present with:
RNASEH2B is ubiquitously expressed with highest levels in:
RNASEH2B expression is regulated by:
Rice GI, Bond J, Asipu A, et al. "Mutations in RNASEH2B cause Aicardi-Goutières syndrome." American Journal of Human Genetics. 2009;85(4):498-507. DOI:10.1016/j.ajhg.2009.09.005
Reijns MA, Bubeck D, Gibson LC, et al. "The structure of the human RNase H2 complex defines the molecular basis for Aicardi-Goutières syndrome." Nature Structural & Molecular Biology. 2011;18(9):1006-1014. DOI:10.1038/nsmb.2093
Crow YJ, Chase DS, Lowenstein Schmidt J, et al. "Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1." American Journal of Medical Genetics Part A. 2015;167(2):296-312. DOI:10.1002/ajmg.a.36887
Takano K, Terezhalmy GT, Hall DO, et al. "RNASEH2B-related Aicardi-Goutières syndrome: expanding the phenotypic spectrum." Brain & Development. 2015;37(10):967-971. DOI:10.1016/j.braindev.2015.03.013