RNASE4: Ribonuclease A Family Member 4
A secreted ribonuclease involved in angiogenesis, neuroprotection, and host defense.
Gene Information Card
| Symbol | RNASE4 |
|---|---|
| Full Name | Ribonuclease A Family Member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 6038 ncbi.nlm.nih.gov/gene/6038 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | P34096 |
| OMIM ID | 180410 |
| HGNC ID | 10046 |
| Aliases | RNS4, ribonuclease 4, RNase 4 |
Description
RNASE4 encodes a member of the ribonuclease A superfamily. The secreted protein exhibits ribonucleolytic activity and is involved in angiogenesis, neuroprotection, and host defense. It is closely related to angiogenin (ANG) and shares a similar genomic locus. RNASE4 is expressed in multiple tissues, with highest levels in the pancreas and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | Potential neuroprotective role; reduced RNASE4 expression may contribute to motor neuron vulnerability. | PMID: 25655963 |
| Pancreatic cancer | Overexpression of RNASE4 may promote angiogenesis and tumor growth. | PMID: 28431214 |
| Colorectal cancer | Altered expression levels associated with tumor progression. | PMID: 29511379 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 112.5 | High |
| Liver | 45.2 | Medium |
| Kidney | 28.7 | Medium |
| Lung | 12.3 | Low |
| Brain | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.9 | Cervical adenocarcinoma |
| HepG2 | 22.1 | Hepatocellular carcinoma |
| A549 | 6.4 | Lung carcinoma |
| MCF7 | 3.2 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.274C>T (p.Arg92Cys) | Missense | Rare | Reduced ribonucleolytic activity |
| c.346G>A (p.Gly116Ser) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the catalytic residues or start codon reduce or abolish ribonuclease activity.
Gain of Function (GOF)
Not well documented; no known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects in RNASE4.
View complete mutation data：
Gene Ontology (GO)
| • pancreatic ribonuclease activity (GO:0004522) | • extracellular region (GO:0005576) |
| • extracellular space (GO:0005615) | • angiogenesis (GO:0001525) |
| • defense response to bacterium (GO:0042742) | • positive regulation of angiogenesis (GO:0051542) |
Pathways
• Angiogenin-RNase A pathway (Reactome: R-HSA-8950505)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
RNASE4 is a 147-amino acid secreted ribonuclease with a signal peptide (residues 1-25) and a mature chain (26-147). It contains the conserved CKXXNTF catalytic motif and three disulfide bonds. The protein is structurally similar to angiogenin but has distinct substrate specificity. It is involved in angiogenesis, neuroprotection, and antimicrobial activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNASE4 Knockout HEK293 Cell Line | EDJ-KQ50569 | Human | 6038 | Details Get a Quote |
| RNASE4 Knockout HeLa Cell Line | EDJ-KQ54331 | Human | 6038 | Details Get a Quote |
| RNASE4 Knockout A-549 Cell Line | EDJ-KQ62824 | Human | 6038 | Details Get a Quote |
| RNASE4 Knockout HCT 116 Cell Line | EDJ-KQ71289 | Human | 6038 | Details Get a Quote |
