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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SF3B5
splicing factor 3b subunit 5
Chromosome 6 · 6q24.2
NCBI Gene: 83443Ensembl: ENSG00000169976.7HGNC: HGNC:21083UniProt: Q9BWJ5
100PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmU2-type spliceosomal complexRNA bindingnucleusdengue diseaseneurodegenerative diseasemetabolic syndromeplacenta praevia
✦AI Summary

SF3B5 is a core component of the 17S U2 SnRNP complex within the spliceosome, functioning as a critical regulator of pre-mRNA splicing 1. It mediates early spliceosome assembly and promotes branch-site adenosine selection, the nucleophile for the first catalytic step of splicing 2. SF3B5 also participates in minor spliceosome function, contributing to U12-type intron splicing 3. Beyond its canonical splicing role, SF3B5 functions as a component of the SAGA transcriptional coactivator complex, where it regulates gene expression independently of splicing machinery 4. Disease relevance is substantial: SF3B5 mutations or dysregulation appear in multiple cancer types. Alternative splicing events involving SF3B5 serve as an independent prognostic indicator in ovarian carcinoma 5, while intravascular NK/T-cell lymphomas display premature termination mutations in SF3B5 alongside aberrant splicing patterns 6. Genome-wide association studies identified SF3B5 as a candidate gene in age-related intestinal amyloidosis 7, and it was implicated as a hub gene in nonalcoholic fatty liver disease pathogenesis 8. The cryo-EM structure of SF3b complexes reveals how splicing modulators like E7107 compete for branch-point adenosine binding, offering therapeutic targets 9. These findings position SF3B5 as both a fundamental splicing component and an emerging biomarker with clinical significance in cancer and metabolic disease.

Sources cited
1
SF3B5 is a component of 17S U2 SnRNP complex involved in early spliceosome assembly and branch-site recognition
PMID: 12234937
2
SF3B5 mediates branch-site adenosine selection as the nucleophile for the first step of splicing
PMID: 32494006
3
SF3B5 participates in minor spliceosome function for U12-type intron splicing
PMID: 15146077
4
SF3B5 functions in SAGA transcriptional coactivator complex for gene expression independent of splicing
PMID: 27185460
5
SF3B5-associated alternative splicing events serve as independent prognostic indicator in ovarian carcinoma
PMID: 34001978
6
SF3B5 has premature termination mutations in intravascular NK/T-cell lymphoma with aberrant splicing
PMID: 32188628
7
SF3B5 is a candidate gene in age-related intestinal amyloidosis from genome-wide association study
PMID: 26936752
8
SF3B5 is a hub gene implicated in nonalcoholic fatty liver disease pathogenesis
PMID: 34938809
9
Cryo-EM structure shows splicing modulators bind SF3B5-containing SF3b complex at branch-point adenosine pocket
PMID: 29491137
Disease Associationsⓘ20
dengue diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.33Weak
metabolic syndromeOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.06Suggestive
breast carcinomaOpen Targets
0.02Suggestive
Meniere diseaseOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
age-related macular degenerationOpen Targets
0.01Suggestive
myotonic dystrophy type 1Open Targets
0.01Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
dilated cardiomyopathyOpen Targets
0.00Suggestive
endothelial dysfunctionOpen Targets
0.00Suggestive
muscular dystrophyOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IKProtein interaction100%MFAP1Protein interaction100%SNRPAProtein interaction100%SNRPCProtein interaction100%SNRPNProtein interaction100%SF3A2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
89%
Heart
76%
Lung
63%
Brain
58%
Ovary
56%
Gene Interaction Network
Click a node to explore
SF3B5IKMFAP1SNRPASNRPCSNRPNSF3A2
PROTEIN STRUCTURE
Preparing viewer…
PDB7Q4O · 2.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.34Tolerant
Observed/Expected LoF0.39 [0.18–1.02]
RankingsWhere SF3B5 stands among ~20K protein-coding genes
  • #4,809of 20,598
    Most Researched100 · top quartile
  • #9,983of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedSF3B5
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Alternative splicing acts as an independent prognosticator in ovarian carcinoma.
PMID: 34001978
Sci Rep · 2021
1.00
2
Transcriptome complexity in intravascular NK/T-cell lymphoma.
PMID: 32188628
J Clin Pathol · 2020
0.83
3
Approaches to Investigating Complex Genetic Traits in a Large-Scale Inbred Mouse Aging Study.
PMID: 26936752
Vet Pathol · 2016
0.67
4
WGCNA-Based Identification of Hub Genes and Key Pathways Involved in Nonalcoholic Fatty Liver Disease.
PMID: 34938809
Biomed Res Int · 2021
0.50
5
The cryo-EM structure of the SF3b spliceosome complex bound to a splicing modulator reveals a pre-mRNA substrate competitive mechanism of action.
PMID: 29491137
Genes Dev · 2018
0.33