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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SRSF2
serine and arginine rich splicing factor 2
Chromosome 17 Β· 17q25.1
NCBI Gene: 6427Ensembl: ENSG00000161547.18HGNC: HGNC:10783UniProt: Q01130
328PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnuclear speckPML bodyRNA bindingacute myeloid leukemiamyelodysplastic syndromehemorrhagic diseaseSepsis
✦AI Summary

SRSF2 (serine and arginine rich splicing factor 2) is an essential RNA splicing regulatory protein that controls pre-mRNA processing and alternative splicing patterns. SRSF2 functions as a sequence-specific RNA-binding protein that recognizes specific exonic splicing enhancer motifs to regulate splice site selection 1. The protein plays a crucial role in 3'-splice site recognition during pre-mRNA processing and can interact with other splicing machinery components 2. Beyond its canonical splicing function, SRSF2 serves as a reader of m5C mRNA modifications, with structural studies identifying specific residues involved in m5C recognition 3. SRSF2 mutations are highly prevalent in myelodysplastic syndromes and acute myeloid leukemia, occurring in approximately 45-85% of myeloid neoplasms with dysplastic features 2. The most common mutation, SRSF2P95H, alters the protein's RNA-binding specificity rather than causing loss of function, leading to recurrent mis-splicing of key hematopoietic regulators including EZH2 1. This mutation impairs the protein's ability to read m5C-marked mRNAs and reduces binding to leukemia-related transcripts 3. SRSF2 mutations contribute to clonal hematopoiesis of indeterminate potential (CHIP) and create actionable neoantigens through stereotyped mis-splicing events that can be targeted by engineered T cells 45.

Sources cited
1
SRSF2 mutations alter sequence-specific RNA binding activity and cause recurrent mis-splicing of hematopoietic regulators like EZH2
PMID: 25965569
2
SRSF2 mutations are frequent (45-85%) in myeloid neoplasms and affect 3'-splice site recognition
PMID: 21909114
3
SRSF2 functions as a reader of m5C mRNA modifications and SRSF2P95H mutation impairs m5C binding
PMID: 38065062
4
SRSF2 mutations contribute to clonal hematopoiesis of indeterminate potential (CHIP)
PMID: 34298011
5
SRSF2 mutations create neoantigens through mis-splicing events that can be targeted by engineered T cells
PMID: 40273911
Disease Associationsβ“˜20
acute myeloid leukemiaOpen Targets
0.73Strong
myelodysplastic syndromeOpen Targets
0.68Moderate
hemorrhagic diseaseOpen Targets
0.64Moderate
SepsisOpen Targets
0.64Moderate
chronic myelomonocytic leukemiaOpen Targets
0.62Moderate
lymphoid neoplasmOpen Targets
0.61Moderate
Absence of circulating granulocytesOpen Targets
0.60Moderate
neoplasmOpen Targets
0.60Moderate
myeloid leukemiaOpen Targets
0.59Moderate
hematologic diseaseOpen Targets
0.58Moderate
hematopoietic and lymphoid system neoplasmOpen Targets
0.57Moderate
monocytic leukemiaOpen Targets
0.57Moderate
myeloid neoplasmOpen Targets
0.56Moderate
purpuraOpen Targets
0.56Moderate
ThrombocytopeniaOpen Targets
0.55Moderate
Common Hematopoietic NeoplasmOpen Targets
0.54Moderate
pneumoniaOpen Targets
0.53Moderate
immune system diseaseOpen Targets
0.52Moderate
blood coagulation diseaseOpen Targets
0.50Moderate
anemia (phenotype)Open Targets
0.49Moderate
Pathogenic Variants2
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)Likely pathogenic
Acute megakaryoblastic leukemia in down syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 95
NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)Pathogenic
Atypical chronic myeloid leukemia, BCR-ABL1 negative|Acute myeloid leukemia
β˜†β˜†β˜†β˜†2023β†’ Residue 95
View on ClinVar β†—
Related Genes
SETBP1Protein interaction100%CLK1Protein interaction100%NCLProtein interaction100%TRA2BProtein interaction100%SF3B1Protein interaction100%PABPN1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
48%
Lung
42%
Ovary
40%
Heart
29%
Brain
28%
Gene Interaction Network
Click a node to explore
SRSF2SETBP1CLK1NCLTRA2BSF3B1PABPN1
PROTEIN STRUCTURE
Preparing viewer…
PDB2KN4 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.52Moderately Constrained
pLIβ“˜
0.93Intolerant
Observed/Expected LoF0.11 [0.04–0.52]
RankingsWhere SRSF2 stands among ~20K protein-coding genes
  • #1,000of 20,598
    Most Researched328 Β· top 5%
  • #4,210of 5,498
    Most Pathogenic Variants2
  • #3,219of 17,882
    Most Constrained (LOEUF)0.52 Β· top quartile
Genes detectedSRSF2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Clonal hematopoiesis of indeterminate potential (CHIP): Linking somatic mutations, hematopoiesis, chronic inflammation and cardiovascular disease.
PMID: 34298011
J Mol Cell Cardiol Β· 2021
1.00
2
Coordinated alterations in RNA splicing and epigenetic regulation drive leukaemogenesis.
PMID: 31578525
Nature Β· 2019
0.90
3
NAT10 Phase Separation Regulates YTHDF1 Splicing to Promote Gastric Cancer Progression.
PMID: 39024555
Cancer Res Β· 2024
0.80
4
Molecular impact of mutations in RNA splicing factors in cancer.
PMID: 39146933
Mol Cell Β· 2024
0.70
5
Acute myeloid leukemia ontogeny is defined by distinct somatic mutations.
PMID: 25550361
Blood Β· 2015
0.64