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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SNW1
SNW domain containing 1
Chromosome 14 · 14q24.3
NCBI Gene: 22938Ensembl: ENSG00000100603.14HGNC: HGNC:16696UniProt: G3V3A4
247PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of DNA-templated transcriptioncyclin/CDK positive transcription elongation factor complextranscription coactivator activitytranscription corepressor activitycancerdengue diseaseneurodegenerative diseasechondromalacia
✦AI Summary

SNW1 (SNW domain containing 1) is a multifunctional spliceosomal protein and transcriptional coactivator critical for both RNA processing and gene regulation. Primary function: SNW1 functions as a core spliceosomal component essential for pre-mRNA splicing 1 and as a transcriptional coactivator regulating NF-κB and Notch signaling pathways 23. Mechanism: SNW1 mediates splicing of genes encoding cohesion proteins (sororin and APC2) required for sister chr14 cohesion 4. In transcriptional regulation, SNW1 detaches from splicing complexes upon pathway activation and binds transcriptional elongation factors like p-TEFb to facilitate target gene expression 2. SNW1 activity is regulated by post-translational O-GlcNAcylation, which modulates its interaction with NF-κB 5. Disease relevance: Heterozygous SNW1 mutations cause primary microcephaly through defective splicing and impaired neural stem cell proliferation 1. SNW1 is upregulated in neuroblastoma and associated with poor prognosis 3. SNW1 dysregulation contributes to gestational diabetes pathophysiology through altered glucose metabolism and insulin signaling 6. In glioblastoma, SNW1 recruitment to super-enhancers drives pro-inflammatory signaling 7. Clinical significance: SNW1 represents a potential therapeutic target for neurodevelopmental disorders, cancer, and metabolic diseases, with therapeutic modulation via kinase inhibitors or small molecule inhibitors showing promise 176.

Sources cited
1
SNW1 mutations cause primary microcephaly through impaired splicing and reduced neural stem cell proliferation
PMID: 40608414
2
SNW1 is a transcriptional coactivator of NF-κB that binds p-TEFb to facilitate transcriptional elongation
PMID: 30397075
3
SNW1 interacts with RBPJ to regulate Notch signaling and is upregulated in neuroblastoma
PMID: 30642633
4
SNW1 is essential for sister chromatid cohesion by mediating splicing of sororin and APC2
PMID: 25257309
5
SNW1 O-GlcNAcylation regulates NF-κB activity and neuroprotection in ischemia-reperfusion injury
PMID: 35818332
6
SNW1 is upregulated in gestational diabetes and regulates glucose metabolism and insulin signaling
PMID: 39905161
7
SNW1 recruitment to super-enhancers promotes LIF transcription in glioblastoma mesenchymal transition
PMID: 38554116
8
SNW1 exhibits stable expression patterns across cancer and normal cell lines as a reference gene
PMID: 34593877
Disease Associationsⓘ20
cancerOpen Targets
0.58Moderate
dengue diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.26Weak
chondromalaciaOpen Targets
0.09Suggestive
insomniaOpen Targets
0.07Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
diabetes mellitusOpen Targets
0.05Suggestive
leukemiaOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
Abnormality of the genital systemOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.02Suggestive
ovarian dysfunctionOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
attention deficit hyperactivity disorderOpen Targets
0.02Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
malignant pleural mesotheliomaOpen Targets
0.02Suggestive
substance abuseOpen Targets
0.02Suggestive
glioblastomaOpen Targets
0.02Suggestive
risk-taking behaviourOpen Targets
0.02Suggestive
Pathogenic Variants1
NM_012245.3(SNW1):c.182_187del (p.Gly61_Gly62del)Likely pathogenic
SNW1-associated neurodevelopmental disorder
★☆☆☆2025→ Residue 61
View on ClinVar ↗
Related Genes
ECM2Protein interaction100%SNRPD2Protein interaction100%SNRPEProtein interaction100%PRPF18Protein interaction100%TCERG1Protein interaction100%ASCC3Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
81%
Heart
58%
Lung
56%
Ovary
53%
Liver
34%
Gene Interaction Network
Click a node to explore
SNW1ECM2SNRPD2SNRPEPRPF18TCERG1ASCC3
PROTEIN STRUCTURE
Preparing viewer…
PDB8C6J · 2.80 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.22Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.10 [0.05–0.22]
RankingsWhere SNW1 stands among ~20K protein-coding genes
  • #1,569of 20,598
    Most Researched247 · top 10%
  • #4,694of 5,498
    Most Pathogenic Variants1
  • #543of 17,882
    Most Constrained (LOEUF)0.22 · top 5%
Genes detectedSNW1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
PMID: 40608414
J Clin Invest · 2025
1.00
2
Super-enhancer-driven LIF promotes the mesenchymal transition in glioblastoma by activating ITGB2 signaling feedback in microglia.
PMID: 38554116
Neuro Oncol · 2024
0.90
3
Integration of transcriptomics and metabolomics data revealed role of insulin resistant SNW1 gene in the pathophysiology of gestational diabetes.
PMID: 39905161
Sci Rep · 2025
0.80
4
SNW1 regulates Notch signaling in neuroblastoma through interacting with RBPJ.
PMID: 30642633
Biochem Biophys Res Commun · 2019
0.70
5
Dexmedetomidine Inhibits NF-κB-Transcriptional Activity in Neurons Undergoing Ischemia-Reperfusion by Regulating O-GlcNAcylation of SNW1.
PMID: 35818332
J Neuropathol Exp Neurol · 2022
0.60