RNASET2
Function
Ribonuclease that plays an essential role in innate immune response by recognizing and degrading RNAs from microbial pathogens that are subsequently sensed by TLR8 (PubMed:31778653). Cleaves preferentially single-stranded RNA molecules between purine and uridine residues, which critically contributes to the supply of catabolic uridine and the generation of purine-2',3'-cyclophosphate-terminated oligoribonucleotides (PubMed:31778653). In turn, RNase T2 degradation products promote the RNA-dependent activation of TLR8 (PubMed:31778653). Also plays a key role in degradation of mitochondrial RNA and processing of non-coding RNA imported from the cytosol into mitochondria (PubMed:28730546, PubMed:30184494). Participates as well in degradation of mitochondrion-associated cytosolic rRNAs (PubMed:30385512).
Involvement in disease
Leukoencephalopathy, cystic, without megalencephaly
LCWM
An infantile-onset syndrome of cerebral leukoencephalopathy. Affected newborns develop microcephaly and neurologic abnormalities including psychomotor impairment, seizures and sensorineural hearing impairment. The brain shows multifocal white matter lesions, anterior temporal lobe subcortical cysts, pericystic abnormal myelination, ventriculomegaly and intracranial calcifications.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the RNase T2 family.
Tissue Specificity
Ubiquitous. Higher expression levels observed in the temporal lobe and fetal brain.
Cellular localization
- Secreted
- Lysosome lumen
- Endoplasmic reticulum lumen
- Mitochondrion intermembrane space
- Full-length RNASET2 is found in the endoplasmic reticulum while smaller RNASET2 proteolytic products are found in the lysosome fraction.
Alternative names
RNASE6PL, RNASET2, Ribonuclease T2, Ribonuclease 6