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Symbol SRSF2 contributors: mct/npt/pgu - updated : 09-06-2020
HGNC name serine/arginine-rich splicing factor 2
HGNC id 10783
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
lowering the level of secreted Abeta APP and may have a role in treating Alzheimer's disease
tumoral germinal mutation      
in myelodysplasia , significantly related to the shorter overall-survival in patients, which may consider as an adverse prognostic risk factor
tumoral germinal mutation      
in chronic myelomonocytic leukemia
tumoral     --over  
frequently in human hepatocellular carcinoma (HCC), where this event is associated with poor prognosis in patients
constitutional germinal mutation      
P95H mutation positively or negatively alters the binding affinity of SRSF2 for cognate RNA sites in target transcripts, leading to misregulation of exon inclusion
tumoral     --low  
decreased expression of SRSF2 in Clear cell renal cell carcinoma (ccRCC) contributes to protection of cancer cells viability
constitutional       loss of function
inactivation of SRSF2 in liver caused dysregulated splicing events and hepatic metabolic disorders, which trigger endoplasmic reticulum stress, oxidative stress, and finally liver failure
constitutional     --over  
SRSF2, as well as another tau splicing factor, TRA2B, are increased in brains of Progressive Supranuclear Palsy (PSP) patients
Variant & Polymorphism
Candidate gene
Therapy target