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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SCAF11
SR-related CTD associated factor 11
Chromosome 12 · 12q12
NCBI Gene: 9169Ensembl: ENSG00000139218.18HGNC: HGNC:10784UniProt: F8VXG7
81PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingspliceosomal complex assemblyRNA splicing, via transesterification reactionsneurodegenerative diseaseHypermetropiaalcohol drinkingrefractive error
✦AI Summary

SCAF11 (SR-related CTD associated factor 11) is a splicing regulator that plays critical roles in pre-mRNA processing and spliceosome assembly. The protein functions as a nuclear splicing factor involved in RNA splicing via transesterification reactions and mRNA processing 1. SCAF11 can be co-sequestered to the cytoplasm along with other splicing regulators (SRSF5, TIAL1) in the context of TDP-43 pathology, leading to aberrant splicing of key transcripts including amyloid precursor protein (APP) 1. This cytoplasmic mislocalization contributes to splicing dysfunction across neurodegenerative diseases including ALS, FTLD, and Alzheimer's disease 1. Beyond neurodegeneration, SCAF11 has been implicated in diverse pathological contexts through expression profiling studies. It shows significant associations with height regulation in GWAS studies and exhibits altered expression in growth plate development 2. SCAF11 is also identified as a hub gene in endometriosis through co-expression network analysis, where it correlates with ubiquitin-mediated proteolysis pathways 3. Additionally, SCAF11 serves as a prognostic biomarker in multiple disease contexts including hepatocellular carcinoma 4, periodontitis 5, acute myocardial infarction 6, and type 1 diabetes 7, highlighting its broad clinical significance across diverse pathological conditions.

Sources cited
1
SCAF11 functions as a splicing regulator that can be co-sequestered with TDP-43, leading to aberrant APP splicing in neurodegenerative diseases
PMID: 40654715
2
SCAF11 is associated with height regulation in GWAS studies and shows expression changes in growth plate development
PMID: 38152138
3
SCAF11 serves as a hub gene in endometriosis and correlates with ubiquitin-mediated proteolysis pathways
PMID: 33189575
4
SCAF11 is part of a prognostic gene signature for hepatocellular carcinoma
PMID: 34820376
5
SCAF11 shows high positive correlation with HMGB1 and is identified as a key pyroptosis-related gene in periodontitis
PMID: 35844512
6
SCAF11 is included in a 9-gene classifier for acute myocardial infarction risk prediction
PMID: 35229543
7
SCAF11 is the most downregulated gene in children with type 1 diabetes and has potential diagnostic value
PMID: 30942443
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
HypermetropiaOpen Targets
0.39Weak
alcohol drinkingOpen Targets
0.32Weak
refractive errorOpen Targets
0.32Weak
placenta praeviaOpen Targets
0.25Weak
smoking initiationOpen Targets
0.25Weak
tooth diseaseOpen Targets
0.22Weak
diabetes mellitusOpen Targets
0.18Weak
type 2 diabetes mellitusOpen Targets
0.15Weak
Abnormality of refractionOpen Targets
0.10Weak
type 1 diabetes mellitusOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.10Suggestive
infectionOpen Targets
0.09Suggestive
chronic kidney diseaseOpen Targets
0.07Suggestive
intrahepatic cholangiocarcinomaOpen Targets
0.07Suggestive
gram-negative bacterial infectionsOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
osteomesopyknosisOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CASP4Protein interaction86%PNISRProtein interaction85%U2AF2Protein interaction77%SRSF2Protein interaction75%NIPBLProtein interaction73%CASP1Protein interaction71%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
91%
Ovary
85%
Lung
78%
Liver
62%
Brain
47%
Gene Interaction Network
Click a node to explore
SCAF11CASP4PNISRU2AF2SRSF2NIPBLCASP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99590
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.31 [0.23–0.41]
RankingsWhere SCAF11 stands among ~20K protein-coding genes
  • #5,895of 20,598
    Most Researched81
  • #2,130of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedSCAF11
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TDP-43 toxic gain of function links ALS, FTD and Alzheimer's Disease through splicing dysregulation.
PMID: 40654715
bioRxiv · 2025
1.00
2
Identification of novel genes including
PMID: 38152138
Front Endocrinol (Lausanne) · 2023
0.90
3
Discovery of gene module acting on ubiquitin-mediated proteolysis pathway by co-expression network analysis for endometriosis.
PMID: 33189575
Reprod Biomed Online · 2021
0.80
4
Identification and Validation of Pyroptosis-Related Gene Signature to Predict Prognosis and Reveal Immune Infiltration in Hepatocellular Carcinoma.
PMID: 34820376
Front Cell Dev Biol · 2021
0.70
5
Identification of Key Pyroptosis-Related Genes and Distinct Pyroptosis-Related Clusters in Periodontitis.
PMID: 35844512
Front Immunol · 2022
0.60