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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SFSWAP
splicing factor SWAP
Chromosome 12 · 12q24.33
NCBI Gene: 6433Ensembl: ENSG00000061936.11HGNC: HGNC:10790UniProt: Q12872
66PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnegative regulation of mRNA splicing, via spliceosomemRNA 5'-splice site recognitionRNA processingneurodegenerative diseasemathematical abilityresponse to antihypertensive drugbenign neoplasm
✦AI Summary

SFSWAP (splicing factor SWAP) is a global negative regulator of pre-mRNA splicing that controls alternative splicing patterns and intron retention across the genome 1. As a splicing factor, SFSWAP modulates the inclusion or exclusion of exons and regulates intron detention, particularly through control of decoy exon usage 1. A key molecular function involves regulating OGT (O-GlcNAc transferase) intron detention, thereby modulating O-GlcNAcylation homeostasis—a reversible post-translational modification affecting thousands of nuclear and cytoplasmic proteins 1. Clinically, SFSWAP dysregulation is associated with several pathological conditions. In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), SFSWAP expression is altered in blood pre-symptomatically and correlates with ataxia severity, making it a candidate biomarker for disease progression 2. Similarly, differential SFSWAP expression distinguishes progressive from non-progressive sarcoidosis in bronchoalveolar lavage cells 3. SFSWAP deficiency impairs inner ear development and function—Sfswap mutant mice exhibit hearing loss, vestibular defects, and reduced hair cell/supporting cell populations, with evidence suggesting genetic interaction with Notch pathway components like Jagged1 4, 5. These findings position SFSWAP as an important regulator of splicing-dependent biological processes with relevance to neurological and immunological disease pathogenesis.

Sources cited
1
SFSWAP is a global negative regulator of pre-mRNA splicing and positive regulator of intron retention, including OGT intron detention
PMID: 40265571
2
SFSWAP expression is dysregulated in SCA3/MJD patients and correlates with ataxia severity, serving as a candidate disease biomarker
PMID: 37071051
3
SFSWAP is differentially expressed between non-progressive and progressive sarcoidosis
PMID: 39080656
4
Sfswap mutations cause inner ear defects including hearing loss and vestibular dysfunction, with genetic interaction with Jagged1/Notch signaling
PMID: 24391519
5
Sfswap mutant mice exhibit hearing loss due to alternative splicing deficits in the inner ear
PMID: 27376950
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.47Moderate
mathematical abilityOpen Targets
0.31Weak
response to antihypertensive drugOpen Targets
0.25Weak
benign neoplasmOpen Targets
0.24Weak
lower urinary tract calculusOpen Targets
0.23Weak
DNA methylationOpen Targets
0.23Weak
toxic epidermal necrolysisOpen Targets
0.22Weak
cardiovascular diseaseOpen Targets
0.21Weak
Stevens-Johnson syndromeOpen Targets
0.21Weak
major salivary gland cancerOpen Targets
0.17Weak
ovarian neoplasmOpen Targets
0.15Weak
gram-negative bacterial infectionsOpen Targets
0.15Weak
Abruptio PlacentaeOpen Targets
0.15Weak
chronic bronchitisOpen Targets
0.15Weak
crush injuryOpen Targets
0.14Weak
response to anticonvulsantOpen Targets
0.14Weak
dislocationOpen Targets
0.14Weak
protozoa infectious diseaseOpen Targets
0.13Weak
brain diseaseOpen Targets
0.11Weak
ulcerative colitisOpen Targets
0.10Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SF3A3Protein interaction100%PRPF39Shared pathway67%SRSF12Shared pathway40%RMP24Shared pathway33%TRMT2BShared pathway33%SUGP1Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
80%
Lung
54%
Liver
46%
Heart
33%
Brain
31%
Gene Interaction Network
Click a node to explore
SFSWAPSF3A3PRPF39SRSF12RMP24TRMT2BSUGP1
PROTEIN STRUCTURE
Preparing viewer…
PDB2E5Z · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.24Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.15 [0.10–0.24]
RankingsWhere SFSWAP stands among ~20K protein-coding genes
  • #7,121of 20,598
    Most Researched66
  • #705of 17,882
    Most Constrained (LOEUF)0.24 · top 5%
Genes detectedSFSWAP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
PMID: 37071051
Brain · 2023
1.00
2
Multi-omic signatures of sarcoidosis and progression in bronchoalveolar lavage cells.
PMID: 39080656
Respir Res · 2024
0.90
3
Alternative splicing of inner-ear-expressed genes.
PMID: 27376950
Front Med · 2016
0.80
4
SFSWAP is a negative regulator of OGT intron detention and global pre-mRNA splicing.
PMID: 40265571
Elife · 2025
0.70
5
Identification of mitophagy-related biomarkers in human osteoporosis based on a machine learning model.
PMID: 38260098
Front Physiol · 2023
0.60