RNASE12
Ribonuclease A Family Member 12 (Inactive)
Gene Information Card
| Symbol | RNASE12 |
|---|---|
| Full Name | Ribonuclease A Family Member 12 (Inactive) |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000276045 |
| UniProt ID | P0DN86 |
| OMIM ID | 618530 |
| HGNC ID | 44158 |
| Aliases | RNASE12P, ribonuclease A family member 12 pseudogene (inactive) |
Description
RNASE12 (Ribonuclease A Family Member 12, Inactive) is a protein-coding gene located on chromosome 14q11.2. It belongs to the ribonuclease A superfamily but is predicted to be catalytically inactive due to key residue substitutions. The gene is expressed in various tissues, with highest levels in the testis and skin. Its biological function remains under investigation, but it may play roles in host defense or reproductive biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Skin | 3.8 | Low |
| Lung | 1.5 | Not detected |
| Breast | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.8 | Low expression |
| HeLa | 0.5 | Not detected |
| K562 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease activity (GO:0004540) | • endonuclease activity (GO:0004519) |
Protein Summary
The RNASE12 protein (UniProt P0DN86) is a 134-amino acid member of the ribonuclease A family. It contains the conserved signal peptide and catalytic histidine and lysine residues, but key active-site residues (e.g., His12, His119) are substituted, rendering it enzymatically inactive. The protein may have evolved non-catalytic functions such as antimicrobial or immunomodulatory roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNASE12 Knockout HEK293 Cell Line | EDJ-KQ15090 | Human | 493901 | Details Get a Quote |
| RNASE12 Knockout HeLa Cell Line | EDJ-KQ60476 | Human | 493901 | Details Get a Quote |
| RNASE12 Knockout A-549 Cell Line | EDJ-KQ68946 | Human | 493901 | Details Get a Quote |
| RNASE12 Knockout HCT 116 Cell Line | EDJ-KQ77305 | Human | 493901 | Details Get a Quote |
