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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SFPQ
splicing factor proline and glutamine rich
Chromosome 1 · 1p34.3
NCBI Gene: 6421Ensembl: ENSG00000116560.12HGNC: HGNC:10774UniProt: A0A384N5Z8
451PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHomologous RecombinationHub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
double-strand break repair via homologous recombinationRNA bindingprotein bindingpositive regulation of transcription by RNA polymerase IItuberculosisEndometrial Endometrioid Adenocarcinomahepatocellular carcinomamelanoma
✦AI Summary

SFPQ is a multifunctional DNA- and RNA-binding protein essential for pre-mRNA splicing and involved in diverse nuclear processes. As a core spliceosome component, SFPQ binds intronic polypyrimidine tracts and facilitates splicing catalytic steps, particularly when complexed with its paralog NONO 1. SFPQ regulates signal-induced alternative splicing, exemplified by phosphorylation-dependent control of CD45 splicing in T-cell activation [UniProt annotation]. Beyond splicing, SFPQ participates in transcriptional regulation through histone deacetylase recruitment and circadian clock repression, and contributes to DNA double-strand break repair and V(D)J recombination via NHEJ pathways 2. SFPQ assembles into nuclear paraspeckles alongside NONO and long noncoding RNA NEAT1, where it sequesters A-to-I edited RNAs 3. Clinically, SFPQ dysregulation drives multiple cancers: upregulation suppresses TGF-β tumor-suppressive signaling through phase-separated condensates that sequester Smad4 4, while SFPQ-TFE3 fusion proteins promote aggressive epithelioid tumors with lineage plasticity through mTORC1 activation 5. In neurodegeneration, SFPQ aggregation alongside edited RNA accumulates in Parkinson's disease and dementia with Lewy bodies nuclei, creating self-propagating pathological inclusions 6. Small-molecule inhibitors targeting NONO similarly suppress cancer-relevant transcription networks 7.

Sources cited
1
SFPQ suppresses TGF-β signaling through prion-like domain-driven phase separation and Smad4 sequestration in cancer cells
PMID: 38103553
2
Covalent NONO ligands suppress cancer-relevant genes; SFPQ is a paralog that may compensate for NONO disruption
PMID: 36864190
3
NONO/SFPQ nuclear aggregates accumulate with A-to-I edited RNA in Parkinson's disease and dementia with Lewy bodies, reducing ADAR3 expression
PMID: 38761794
4
FUS-dependent LLPS is necessary for recruiting SFPQ and other DDR factors to DNA damage sites and for proper γH2AX foci formation
PMID: 33704371
5
SFPQ-TFE3 fusion drives epithelioid tumors with lineage plasticity through mTORC1-dependent transcriptional reprogramming
PMID: 39605439
6
SFPQ is a member of the DBHS protein family that forms paraspeckles with NEAT1 to retain A-to-I edited RNA
PMID: 20573717
7
mTOR suppresses NEAT1_2-based paraspeckles, liberating NONO/SFPQ to enhance glycolytic splicing in hepatocellular carcinoma
PMID: 35547764
8
NONO/SFPQ bind preferentially to NEAT1_2 subdomains and undergo phase separation to construct paraspeckles
PMID: 29932899
Disease Associationsⓘ20
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
tuberculosisOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.30Weak
melanomaOpen Targets
0.30Weak
non-small cell lung carcinomaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
allergic rhinitisOpen Targets
0.28Weak
papillary renal cell carcinomaOpen Targets
0.28Weak
bladder transitional cell carcinomaOpen Targets
0.28Weak
esophageal adenocarcinomaOpen Targets
0.28Weak
colon adenocarcinomaOpen Targets
0.28Weak
esophageal squamous cell carcinomaOpen Targets
0.28Weak
acute myeloid leukemiaOpen Targets
0.28Weak
rectal adenocarcinomaOpen Targets
0.28Weak
squamous cell lung carcinomaOpen Targets
0.28Weak
urinary bladder carcinomaOpen Targets
0.28Weak
clear cell renal carcinomaOpen Targets
0.28Weak
gastric adenocarcinomaOpen Targets
0.28Weak
chronic myelomonocytic leukemiaOpen Targets
0.28Weak
Mantle cell lymphomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IGFBP3Protein interaction100%MAPTProtein interaction97%ASPSCR1Protein interaction97%HNRNPRProtein interaction96%SRSF3Protein interaction95%U2AF2Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
36%
Lung
21%
Brain
20%
Liver
18%
Heart
14%
Gene Interaction Network
Click a node to explore
SFPQIGFBP3MAPTASPSCR1HNRNPRSRSF3U2AF2
PROTEIN STRUCTURE
Preparing viewer…
PDB7LRU · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.28Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.17 [0.10–0.28]
RankingsWhere SFPQ stands among ~20K protein-coding genes
  • #612of 20,598
    Most Researched451 · top 5%
  • #1,013of 17,882
    Most Constrained (LOEUF)0.28 · top 10%
Genes detectedSFPQ
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Smad4 sequestered in SFPQ condensates prevents TGF-β tumor-suppressive signaling.
PMID: 38103553
Dev Cell · 2024
1.00
2
Remodeling oncogenic transcriptomes by small molecules targeting NONO.
PMID: 36864190
Nat Chem Biol · 2023
0.90
3
Nuclear aggregates of NONO/SFPQ and A-to-I-edited RNA in Parkinson's disease and dementia with Lewy bodies.
PMID: 38761794
Neuron · 2024
0.80
4
Small-molecule dissolution of stress granules by redox modulation benefits ALS models.
PMID: 40369342
Nat Chem Biol · 2025
0.72
5
FUS-dependent liquid-liquid phase separation is important for DNA repair initiation.
PMID: 33704371
J Cell Biol · 2021
0.70