RNASET2 (Ribonuclease T2): Genetics, Function, and Clinical Significance
A comprehensive overview of the RNASET2 gene, including its genomic context, protein function, associated diseases, expression patterns, and mutational landscape.
Gene Information Card
| Symbol | RNASET2 |
|---|---|
| Full Name | ribonuclease T2 |
| Gene Type | protein coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 8635 ncbi.nlm.nih.gov/gene/8635 |
| Ensembl ID | ENSG00000112425 |
| UniProt ID | O00584 |
| OMIM ID | 612944 |
| HGNC ID | 21686 |
| Aliases | RNASE6PL, RNASE6PR, RNASET2, bA530O23.2 |
Description
RNASET2 encodes ribonuclease T2, a lysosomal enzyme that degrades single-stranded RNA. It is involved in RNA metabolism and has been implicated in immune modulation and tumor suppression. Mutations in RNASET2 cause a rare autosomal recessive leukoencephalopathy characterized by cystic brain lesions and neurological deficits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leukoencephalopathy, cystic, without megalencephaly | Loss-of-function mutations lead to deficient RNASET2 activity, impairing RNA degradation in lysosomes, resulting in white matter damage. | ClinVar, OMIM |
| RNASET2-related disorder | Biallelic pathogenic variants cause a spectrum of neurological phenotypes including intellectual disability and motor dysfunction. | ClinVar, OMIM |
| Cancer (potential role) | Reduced RNASET2 expression or activity may contribute to tumor progression via altered RNA clearance and immune evasion. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney | 5.4 | Low |
| Spleen | 4.8 | Low |
| Testis | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical adenocarcinoma |
| K-562 | 10.1 | Chronic myelogenous leukemia |
| A549 | 7.8 | Lung carcinoma |
| HepG2 | 5.6 | Hepatocellular carcinoma |
| MCF7 | 4.3 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.294C>A (p.Cys98Ter) | Nonsense | Rare | Loss of function, premature truncation |
| c.397G>A (p.Gly133Arg) | Missense | Rare | Likely loss of function, altered protein stability |
| c.468+1G>T | Splice site | Rare | Splicing defect, loss of function |
| c.1A>G (p.Met1?) | Start codon loss | Rare | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic variants are loss-of-function, leading to enzyme deficiency and lysosomal storage of RNA.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease activity | • RNA binding |
| • lysosome | • extracellular exosome |
| • RNA catabolic process | • immune response |
Pathways
• RNA degradation
• Lysosome
Protein Summary
RNASET2 is a 256-amino acid glycoprotein localized to lysosomes. It cleaves single-stranded RNA with no base specificity, producing 3'-phosphorylated nucleotides. The enzyme plays a role in scavenging extracellular RNA and modulating immune responses. Its deficiency leads to accumulation of undigested RNA in lysosomes, particularly affecting oligodendrocytes and causing white matter disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNASET2 Knockout HEK293 Cell Line | EDJ-KQ50806 | Human | 8635 | Details Get a Quote |
| RNASET2 Knockout HeLa Cell Line | EDJ-KQ54962 | Human | 8635 | Details Get a Quote |
| RNASET2 Knockout A-549 Cell Line | EDJ-KQ63445 | Human | 8635 | Details Get a Quote |
| RNASET2 Knockout HCT 116 Cell Line | EDJ-KQ71913 | Human | 8635 | Details Get a Quote |
