SLFN14: Schlafen Family Member 14
A regulator of platelet function and ribosome biogenesis
Gene Information Card
| Symbol | SLFN14 |
|---|---|
| Full Name | Schlafen family member 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 342618 ncbi.nlm.nih.gov/gene/342618 |
| Ensembl ID | ENSG00000187634 |
| UniProt ID | P0C7P0 |
| OMIM ID | 614958 |
| HGNC ID | 29386 |
| Aliases | FLJ34443, MGC26733 |
Description
SLFN14 encodes a member of the Schlafen family of proteins, which are involved in cell growth, differentiation, and immune function. The protein localizes to the cytoplasm and nucleolus and plays a role in platelet production and function. Mutations in SLFN14 are associated with an autosomal dominant bleeding disorder characterized by thrombocytopenia and platelet dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thrombocytopenia, bleeding disorder, platelet dysfunction | Missense mutations in SLFN14 impair ribosome biogenesis and platelet production, leading to reduced platelet count and abnormal platelet function. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 4.1 | Low |
| Whole blood | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Overexpression studies |
| K562 | 6.8 | Erythroleukemia cell line |
| Meg-01 | 9.5 | Megakaryocytic cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.658A>G (p.Lys220Glu) | Missense | Rare | Dominant negative effect on ribosome biogenesis |
| c.665A>G (p.Tyr222Cys) | Missense | Rare | Impaired platelet production |
| c.674C>T (p.Pro225Leu) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Not established; mutations are typically dominant negative.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the SLFN14 gene act via a dominant negative mechanism, disrupting ribosome biogenesis and platelet formation.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • cytoplasm (GO:0005737) |
| • ribosome biogenesis (GO:0042254) | • platelet formation (GO:0030220) |
| • protein binding (GO:0005515) |
Pathways
• Ribosome biogenesis in eukaryotes
• Platelet activation and aggregation
Protein Summary
SLFN14 is a 914-amino acid protein belonging to the Schlafen family. It contains a conserved Schlafen domain and localizes to the nucleolus and cytoplasm. The protein is involved in ribosome biogenesis and is essential for normal platelet production. Mutations in SLFN14 cause autosomal dominant thrombocytopenia with platelet dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLFN14 Knockout HEK293 Cell Line | EDJ-KQ15353 | Human | 342618 | Details Get a Quote |
| SLFN14 Knockout HeLa Cell Line | EDJ-KQ59729 | Human | 342618 | Details Get a Quote |
| SLFN14 Knockout A-549 Cell Line | EDJ-KQ68201 | Human | 342618 | Details Get a Quote |
| SLFN14 Knockout HCT 116 Cell Line | EDJ-KQ76574 | Human | 342618 | Details Get a Quote |
