Srsf2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
{{Infobox gene
| name = Serine and Arginine Rich Splicing Factor 2
| symbol = SRSF2
| gene_id = 6733
| omim = 600813
| ensembl = ENSG00000161547
| uniprot = P84103
| chromosome = 17
| location = 17q25.1
| diseases = MDS, AML, ALS, neurodegeneration
}}
SRSF2 (Serine/Arginine-Rich Splicing Factor 2) is a gene located on chromosome 17q25.2 that encodes an RNA-binding protein involved in pre-mRNA splicing. SRSF2 is a member of the serine/arginine (SR) family of splicing factors and plays a critical role in both constitutive and alternative splicing. The protein contains an RNA recognition motif (RRM) and an RS domain that facilitates protein-protein interactions.
SRSF2 is essential for normal cellular function and its dysregulation has been implicated in various diseases, including cancer and autoimmune disorders. Mutations in SRSF2 are commonly found in myelodysplastic syndromes (MDS) and clonal hematopoiesis, where they lead to altered splicing patterns that affect cell proliferation and differentiation.
SRSF2 encodes serine/arginine-rich splicing factor 2 (SC35), a member of the SR family of splicing factors. SRSF2 is involved in:
SRSF2 contains an RNA recognition motif (RRM) at the N-terminus and an RS domain (arginine/serine-rich) at the C-terminus that mediates protein-protein interactions.
The study of Srsf2 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.