RNASE8 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the RNASE8 gene, its protein product, expression patterns, and associated diseases.
Gene Information Card
| Symbol | RNASE8 |
|---|---|
| Full Name | Ribonuclease A Family Member 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 122665 ncbi.nlm.nih.gov/gene/122665 |
| Ensembl ID | ENSG00000184270 |
| UniProt ID | Q8TDD2 |
| OMIM ID | 612346 |
| HGNC ID | 18513 |
| Aliases | RNase8, RNASE8P, RNase 8 |
Description
RNASE8 encodes a member of the ribonuclease A superfamily. The protein is a secreted antimicrobial ribonuclease with potent bactericidal activity, particularly against Gram-positive bacteria. It is expressed in the skin and other epithelial tissues, contributing to innate immune defense. The gene is located in a cluster of ribonuclease genes on chromosome 14.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infectious diseases (bacterial infections) | RNASE8 exhibits antimicrobial activity against pathogens; reduced expression or function may increase susceptibility to skin infections. | PubMed: 16912298, 20585042 |
| Psoriasis | RNASE8 is overexpressed in psoriatic skin lesions, suggesting a role in inflammatory skin responses. | PubMed: 20585042 |
| Cancer (potential) | Altered expression of RNASE8 has been observed in certain tumors, but mechanistic evidence is limited. | COSMIC: no significant mutation data; expression data from GTEx and HPA |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.8 | Low |
| Esophagus | 0.5 | Low |
| Lung | 0.3 | Low |
| Spleen | 0.2 | Low |
| Bone Marrow | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | 0.5 | Expressed in skin keratinocytes |
| A549 (lung carcinoma) | 0.2 | Low expression |
| HeLa (cervical carcinoma) | 0.1 | Very low |
| MCF7 (breast carcinoma) | 0.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2235095 (p.Arg5Gln) | Missense | Minor allele frequency ~0.1% | May affect antimicrobial activity; not clinically significant |
| rs2235096 (p.Arg7Gln) | Missense | Minor allele frequency ~0.1% | Potential impact on protein function; not disease-associated |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not applicable; RNASE8 is a secreted enzyme, and no dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease activity | • endonuclease activity |
| • antimicrobial humoral response | • defense response to bacterium |
| • extracellular space |
Pathways
• Innate immune response
• Antimicrobial peptides
Protein Summary
RNASE8 is a small secreted protein (approximately 14 kDa) belonging to the ribonuclease A family. It possesses ribonuclease activity and exhibits antimicrobial properties, particularly against Gram-positive bacteria. The protein is expressed in skin and mucosal tissues, contributing to the innate immune barrier. Its expression is upregulated in psoriatic skin, suggesting a role in inflammatory skin conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNASE8 Knockout HEK293 Cell Line | EDJ-KQ8159 | Human | 122665 | Details Get a Quote |
| RNASE8 Knockout HeLa Cell Line | EDJ-KQ58103 | Human | 122665 | Details Get a Quote |
| RNASE8 Knockout A-549 Cell Line | EDJ-KQ66591 | Human | 122665 | Details Get a Quote |
| RNASE8 Knockout HCT 116 Cell Line | EDJ-KQ75007 | Human | 122665 | Details Get a Quote |
