RNASE13
Ribonuclease A Family Member 13 (Inactive)
Gene Information Card
| Symbol | RNASE13 |
|---|---|
| Full Name | Ribonuclease A Family Member 13 (Inactive) |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 440163 ncbi.nlm.nih.gov/gene/440163 |
| Ensembl ID | ENSG00000205572 |
| UniProt ID | Q5GAN3 |
| OMIM ID | 612484 |
| HGNC ID | 19859 |
| Aliases | Ribonuclease 13, RNase 13, RNASE13P |
Description
RNASE13 is a member of the ribonuclease A superfamily, located on chromosome 14q11.2. The gene encodes a protein that is predicted to be catalytically inactive due to the absence of key active-site residues. Its biological function remains largely uncharacterized, but it may play a role in host defense or other cellular processes. Expression data suggest low to moderate levels in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 0.3 | Not detected |
| Brain | 0.2 | Not detected |
| Lung | 0.4 | Not detected |
| Testis | 0.5 | Not detected |
| Thyroid | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.1 | Low expression |
| HeLa | 0.2 | Low expression |
| K562 | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic 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：
Protein Summary
The RNASE13 protein (UniProt Q5GAN3) is a predicted inactive ribonuclease. It lacks conserved catalytic histidine and lysine residues essential for RNase activity. The protein may have evolved a non-enzymatic function, but experimental evidence is lacking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNASE13 Knockout HEK293 Cell Line | EDJ-KQ15091 | Human | 440163 | Details Get a Quote |
| RNASE13 Knockout HeLa Cell Line | EDJ-KQ60387 | Human | 440163 | Details Get a Quote |
| RNASE13 Knockout A-549 Cell Line | EDJ-KQ68854 | Human | 440163 | Details Get a Quote |
| RNASE13 Knockout HCT 116 Cell Line | EDJ-KQ77218 | Human | 440163 | Details Get a Quote |
