RNASE2: Ribonuclease A Family Member 2 (Eosinophil-Derived Neurotoxin)
A comprehensive biomedical resource for RNASE2 gene, including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | RNASE2 |
|---|---|
| Full Name | Ribonuclease A Family Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 6036 ncbi.nlm.nih.gov/gene/6036 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | P10153 |
| OMIM ID | 131410 |
| HGNC ID | 10046 |
| Aliases | EDN, RAF2, RNAS2, RNS2 |
Description
RNASE2 (Ribonuclease A Family Member 2), also known as eosinophil-derived neurotoxin (EDN), is a protein-coding gene located on chromosome 14q11.2. It encodes a member of the ribonuclease A superfamily, which is secreted by eosinophils and exhibits antiviral and ribonuclease activity. RNASE2 is involved in host defense, inflammation, and neurotoxicity, and its expression is associated with eosinophil-related disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Eosinophilic Esophagitis | Elevated RNASE2 expression contributes to tissue inflammation and remodeling via ribonuclease activity and cytokine release. | ClinVar, PMID: 25713205 |
| Asthma | RNASE2 released from eosinophils promotes airway inflammation and mucus hypersecretion. | NCBI Gene, PMID: 14566376 |
| Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss Syndrome) | Increased serum EDN levels correlate with disease activity and eosinophil degranulation. | OMIM, PMID: 22084445 |
| Viral Infections (e.g., RSV, HIV) | RNASE2 exhibits direct antiviral activity by degrading viral RNA and modulating immune responses. | UniProt, PMID: 12867660 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.2 | Medium |
| Lung | 6.1 | Low |
| Small Intestine | 5.3 | Low |
| Blood (whole) | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Eosinophils (primary) | 45.2 | High expression; major source of EDN |
| HL-60 (promyeloblast) | 3.1 | Moderate; induced upon differentiation |
| A549 (lung carcinoma) | 1.5 | Low; baseline expression |
| K562 (chronic myeloid leukemia) | 0.8 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.274G>A (p.Gly92Ser) | missense | <0.01% | Reduced ribonuclease activity in vitro |
| c.389C>T (p.Pro130Leu) | missense | <0.01% | No significant effect on activity |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1?) may abolish translation; c.274G>A (p.Gly92Ser) reduces enzymatic activity.
Gain of Function (GOF)
No documented gain-of-function mutations in RNASE2.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease activity (GO:0004540) | • antiviral defense (GO:0051607) |
| • eosinophil chemotaxis (GO:0048245) | • extracellular space (GO:0005615) |
| • nucleic acid binding (GO:0003676) |
Pathways
• Ribonuclease A family pathway
• Eosinophil degranulation pathway
• Innate immune response to RNA viruses
Protein Summary
RNASE2 encodes eosinophil-derived neurotoxin (EDN), a 134-amino-acid secreted ribonuclease. The protein has a signal peptide (residues 1–27) and a mature chain (28–134) with ribonuclease activity. EDN is stored in eosinophil granules and released upon activation. It exhibits antiviral activity against single-stranded RNA viruses (e.g., RSV, HIV) and contributes to neurotoxicity and inflammation in eosinophilic disorders. The protein structure includes a conserved catalytic triad (His15, Lys38, His129) essential for RNA cleavage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNASE2 Knockout HEK293 Cell Line | EDJ-KQ5677 | Human | 6036 | Details Get a Quote |
| RNASE2 Knockout HeLa Cell Line | EDJ-KQ54329 | Human | 6036 | Details Get a Quote |
| RNASE2 Knockout A-549 Cell Line | EDJ-KQ62822 | Human | 6036 | Details Get a Quote |
| RNASE2 Knockout HCT 116 Cell Line | EDJ-KQ71287 | Human | 6036 | Details Get a Quote |
