RNASE3: Eosinophil Cationic Protein (ECP) – Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the RNASE3 gene encoding eosinophil cationic protein, its role in innate immunity, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | RNASE3 |
|---|---|
| Full Name | Ribonuclease A Family Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 6037 ncbi.nlm.nih.gov/gene/6037 |
| Ensembl ID | ENSG00000169397 |
| UniProt ID | P12724 |
| OMIM ID | 131398 |
| HGNC ID | 10047 |
| Aliases | ECP, RNS3, RA, ribonuclease 3 |
Description
RNASE3 encodes eosinophil cationic protein (ECP), a member of the ribonuclease A superfamily. ECP is a basic protein stored in eosinophil granules and released upon activation. It exhibits potent ribonuclease activity and is involved in host defense against parasites, modulation of immune responses, and tissue remodeling. Elevated ECP levels are associated with eosinophilic inflammatory conditions such as asthma, allergic rhinitis, and eosinophilic esophagitis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | ECP released from activated eosinophils contributes to airway inflammation, epithelial damage, and bronchial hyperresponsiveness. | ClinVar, OMIM |
| Eosinophilic Esophagitis | Increased ECP levels in esophageal tissue correlate with eosinophil infiltration and tissue remodeling. | NCBI Gene, PubMed |
| Allergic Rhinitis | Elevated ECP in nasal secretions reflects eosinophilic inflammation. | OMIM, ClinVar |
| Hypereosinophilic Syndrome | Overproduction of ECP from eosinophils leads to end-organ damage. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 6.1 | Low |
| Esophagus | 5.4 | Low |
| Small Intestine | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Eosinophils | High | Primary cell type expressing RNASE3 |
| HL-60 (promyelocytic) | Low | Differentiation increases expression |
| KU812 (basophilic) | Low | Minor expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; functional impact unknown |
| c.67G>A (p.Gly23Arg) | Missense | <0.01% | Alters ribonuclease activity; associated with altered ECP levels |
| c.371C>T (p.Thr124Ile) | Missense | <0.01% | Reduced enzymatic activity; linked to asthma severity |
Mutation functional classification
Loss of Function (LOF)
p.Thr124Ile reduces ribonuclease activity, potentially impairing antimicrobial defense.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for RNASE3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Eosinophil degranulation (Reactome: R-HSA-6798695)
• Innate immune system (Reactome: R-HSA-168249)
• Antimicrobial peptides (Reactome: R-HSA-6803157)
Protein Summary
Eosinophil cationic protein (ECP) is a 15.5 kDa basic protein (pI >11) with ribonuclease activity. It is synthesized as a preproprotein and processed to the mature form. ECP is cytotoxic to bacteria, parasites, and mammalian cells. It also modulates immune cell functions, including mast cell degranulation and fibroblast activation. Elevated serum ECP is a biomarker for eosinophilic inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNASE3 Knockout HEK293 Cell Line | EDJ-KQ2979 | Human | 6037 | Details Get a Quote |
| RNASE3 Knockout HeLa Cell Line | EDJ-KQ54330 | Human | 6037 | Details Get a Quote |
| RNASE3 Knockout A-549 Cell Line | EDJ-KQ62823 | Human | 6037 | Details Get a Quote |
| RNASE3 Knockout HCT 116 Cell Line | EDJ-KQ71288 | Human | 6037 | Details Get a Quote |
