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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SLFN14
schlafen family member 14
Chromosome 17 Β· 17q12
NCBI Gene: 342618Ensembl: ENSG00000236320.4HGNC: HGNC:32689UniProt: P0C7P3
18PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA endonuclease activityrRNA catabolic processplatelet maturationnucleusRare hemorrhagic disorder due to a constitutional platelet anomalyThrombocytopeniaAbnormal bleedingneurodegenerative disease
✦AI Summary

SLFN14 is a polysome-associated endoribonuclease that cleaves various RNA substrates including mRNAs and rRNAs in a magnesium- and manganese-dependent manner 1. The protein assembles into a stable homodimer featuring an RNase domain, SWADL domain, and helicase-like domain, but lacks functional helicase activity 12. SLFN14 specifically recognizes and cleaves RNAs containing short duplex regions such as hairpin RNAs and tRNAs 2, with substrate recognition occurring through phosphate backbone interactions rather than sequence-specificity 3. Functionally, SLFN14 regulates translation of codon-biased mRNAs through ribosome-dependent mechanisms and exhibits antiviral activity by inhibiting HIV-1 replication via translational repression and impairment of ribosomal frameshifting 24. In platelet biology, SLFN14 is essential for proper megakaryocyte maturation and proplatelet extension 5. Disease-causing missense mutations in SLFN14 cause inherited bleeding disorder, platelet-type 20, characterized by macrothrombocytopenia and platelet dysfunction 56. Pathogenic variants exhibit reduced protein expression through post-translational degradation and dysregulate megakaryocyte/platelet gene expression, with rRNA degradation triggering compensatory mTORC1-mediated ribosomal biogenesis 67.

Sources cited
1
SLFN14 structure (RNase domain, SWADL domain, helicase domain) and strong RNase activity over different substrates; lacks helicase activity
PMID: 40464691
2
SLFN14 specifically cleaves short duplex RNAs (hairpin, tRNA); forms ring-like dimer; inhibits HIV-1 via translational repression and ribosomal frameshifting impairment
PMID: 40642785
3
SLFN14 endoribonuclease architecture, broad site-specificity for RNA, metal-dependent acceptor stem cleavage
PMID: 40592880
4
SLFN14 deletion in platelets/megakaryocytes causes macrothrombocytopenia, platelet dysfunction, dysregulated gene expression
PMID: 40794453
5
SLFN14 K219N mutation causes ribosome dysfunction, defective proplatelet formation, dysregulated mTORC1 signaling and compensatory ribosomal protein upregulation
PMID: 36790527
6
SLFN14 regulates codon-biased mRNA expression through endoribonuclease activity and rRNA degradation; inhibits HIV-1 replication
PMID: 38675845
7
SLFN14 colocalizes with ribosomes and mediates rRNA degradation; disease-causing mutations show reduced expression through post-translational degradation
PMID: 29678925
Disease Associationsβ“˜21
Rare hemorrhagic disorder due to a constitutional platelet anomalyOpen Targets
0.74Strong
ThrombocytopeniaOpen Targets
0.46Moderate
Abnormal bleedingOpen Targets
0.44Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
blood platelet diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
liver diseaseOpen Targets
0.09Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.08Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.08Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hemoglobin D diseaseOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.07Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.07Suggestive
dominant beta-thalassemiaOpen Targets
0.07Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.06Suggestive
hemoglobin H diseaseOpen Targets
0.06Suggestive
hemoglobin E diseaseOpen Targets
0.06Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.06Suggestive
autosomal dominant sideroblastic anemiaOpen Targets
0.06Suggestive
Bleeding disorder, platelet-type, 20UniProt
Pathogenic Variants4
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu)Likely pathogenic
Platelet-type bleeding disorder 20|Inborn genetic diseases
β˜…β˜…β˜†β˜†2021β†’ Residue 218
NM_001129820.2(SLFN14):c.659T>A (p.Val220Asp)Pathogenic
Platelet-type bleeding disorder 20|Thrombocytopenia;Abnormal bleeding
β˜†β˜†β˜†β˜†2023β†’ Residue 220
NM_001129820.2(SLFN14):c.667C>T (p.Arg223Trp)Pathogenic
Platelet-type bleeding disorder 20
β˜†β˜†β˜†β˜†2023β†’ Residue 223
NM_001129820.2(SLFN14):c.3_4insCTAGTCGACTATA (p.Glu2fs)Pathogenic
Abnormal bleeding;Thrombocytopenia
β˜†β˜†β˜†β˜†2020β†’ Residue 2
View on ClinVar β†—
Related Genes
DIS3LShared pathway29%SLFN12LShared pathway25%SLFN5Shared pathway25%TRIRShared pathway25%NUDT16Shared pathway20%NUDT16L1Shared pathway20%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
14%
Liver
2%
Ovary
1%
Heart
0%
Brain
0%
Gene Interaction Network
Click a node to explore
SLFN14DIS3LSLFN12LSLFN5TRIRNUDT16NUDT16L1
PROTEIN STRUCTURE
Preparing viewer…
PDB9NYY Β· 2.73 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.63–1.02]
RankingsWhere SLFN14 stands among ~20K protein-coding genes
  • #14,814of 20,598
    Most Researched18
  • #3,865of 5,498
    Most Pathogenic Variants4
  • #10,034of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedSLFN14
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Structural and functional characterization of human SLFN14.
PMID: 40464691
Nucleic Acids Res Β· 2025
1.00
2
Platelet-specific SLFN14 deletion causes macrothrombocytopenia and platelet dysfunction through dysregulated megakaryocyte and platelet gene expression.
PMID: 40794453
J Clin Invest Β· 2025
0.90
3
SLFN14 ribosomopathy and platelet dysfunction.
PMID: 37140956
Blood Β· 2023
0.80
4
Human Schlafen 14 Cleavage of Short Double-Stranded RNAs Underpins its Antiviral Activity.
PMID: 40642785
Adv Sci (Weinh) Β· 2025
0.70
5
CryoEM structure of the SLFN14 endoribonuclease reveals insight into RNA binding and cleavage.
PMID: 40592880
Nat Commun Β· 2025
0.60