SLFN13: Schlafen Family Member 13
A putative ribonuclease involved in immune regulation and cell proliferation
Gene Information Card
| Symbol | SLFN13 |
|---|---|
| Full Name | Schlafen Family Member 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 146857 ncbi.nlm.nih.gov/gene/146857 |
| Ensembl ID | ENSG00000186907 |
| UniProt ID | Q68D06 |
| OMIM ID | 614297 |
| HGNC ID | 26088 |
| Aliases | FLJ33655, MGC138499 |
Description
SLFN13 (Schlafen Family Member 13) is a protein-coding gene belonging to the Schlafen family, which is characterized by a conserved Schlafen domain. The encoded protein is predicted to function as a ribonuclease involved in RNA metabolism and has been implicated in the regulation of immune responses and cell proliferation. SLFN13 is expressed in various tissues, with notable levels in lymphoid organs and the gastrointestinal tract.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Potential role in cell cycle regulation; altered expression may contribute to tumorigenesis. | Expression profiling studies (PMID: 25691885) |
| Immune System Disorders | May modulate T-cell activation and cytokine production. | Functional studies (PMID: 28459452) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph Node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Small Intestine | 8.9 | Low |
| Colon | 7.3 | Low |
| Bone Marrow | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.3 | Leukemia cell line; moderate expression |
| HeLa | 9.8 | Cervical cancer cell line; low expression |
| A549 | 7.2 | Lung cancer cell line; low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown functional impact |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • nuclease activity (GO:0004518) | • RNA binding (GO:0003723) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • innate immune response (GO:0045087) |
Pathways
• Not currently assigned to any curated pathway in Reactome or KEGG.
Protein Summary
The SLFN13 protein is a member of the Schlafen family, which is characterized by a conserved N-terminal Schlafen domain. It is predicted to possess ribonuclease activity and localizes to both the nucleus and cytoplasm. SLFN13 may play a role in RNA processing and immune modulation, particularly in lymphoid tissues. Its expression is altered in certain cancers, suggesting a potential role in tumor biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLFN13 Knockout HEK293 Cell Line | EDJ-KQ10500 | Human | 146857 | Details Get a Quote |
| SLFN13 Knockout A-549 Cell Line | EDJ-KQ37901 | Human | 146857 | Details Get a Quote |
| SLFN13 Knockout HeLa Cell Line | EDJ-KQ37902 | Human | 146857 | Details Get a Quote |
| SLFN13 Knockout HCT 116 Cell Line | EDJ-KQ75453 | Human | 146857 | Details Get a Quote |
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