SLFN12L
Schlafen Family Member 12 Like
Gene Information Card
| Symbol | SLFN12L |
|---|---|
| Full Name | Schlafen family member 12 like |
| Gene Type | Protein-coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 100506736 ncbi.nlm.nih.gov/gene/100506736 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | Q6IEE7 |
| OMIM ID | 614295 |
| HGNC ID | 37212 |
| Aliases | FLJ45831, MGC16384 |
Description
SLFN12L (Schlafen family member 12 like) is a protein-coding gene located on chromosome 17q12. It belongs to the Schlafen family of genes, which are involved in cell growth regulation, immune response, and differentiation. The encoded protein may play a role in modulating cell cycle progression and has been implicated in certain cancers. Expression is enriched in lymphoid tissues and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pancreatic, colorectal) | Altered expression may affect cell proliferation and immune evasion | COSMIC, NCBI Gene |
| HIV-1 infection | Potential restriction factor activity (inferred from family members) | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 8.7 | Medium |
| Spleen | 7.1 | Low |
| Bone marrow | 5.4 | Low |
| Colon | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 9.8 | Moderate expression |
| HeLa (cervical) | 4.5 | Low expression |
| A549 (lung) | 2.1 | Very low |
| MCF7 (breast) | 1.3 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Ile) | Missense | <0.1% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | <0.1% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: protein binding (GO:0005515) | • Biological process: regulation of cell cycle (GO:0051726) |
| • Cellular component: cytoplasm (GO:0005737) |
Pathways
• Not assigned to any curated pathway in Reactome or KEGG.
Protein Summary
The SLFN12L protein (UniProt Q6IEE7) is a 419-amino acid member of the Schlafen family. It contains a divergent AAA domain and is predicted to localize to the cytoplasm. Its exact biochemical function remains unclear, but it may influence cell proliferation and immune modulation. Expression is highest in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLFN12L Knockout HEK293 Cell Line | EDJ-KQ15352 | Human | 100506736 | Details Get a Quote |
| SLFN12L Knockout HeLa Cell Line | EDJ-KQ60915 | Human | 100506736 | Details Get a Quote |
| SLFN12L Knockout A-549 Cell Line | EDJ-KQ69390 | Human | 100506736 | Details Get a Quote |
| SLFN12L Knockout HCT 116 Cell Line | EDJ-KQ77743 | Human | 100506736 | Details Get a Quote |
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