SRSF2 Gene

The SRSF2 gene (SRSF2 is the acropnyme for: Serine And Arginine Rich Splicing Factor 2) is located on chromosome 17q25.2 and encodes a protein of the same name, which is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors that are part of the spliceosome. This splicing factor is widely expressed in a variety of mammalian cell types (Li K et al. 2021).

SRSF2 contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates the interaction between different SR splicing factors.

The SR proteins are not only critical for mRNA splicing but also involved in mRNA export from the nucleus and translation.

Two transcript variants have been detected for the SRSF2 gene. They code for the same protein. Furthermore, a non-coding transcript variant has been found. In addition, a pseudogene of this gene was found on chromosome 11.

There is evidence that SRSF2 expression can be upregulated by herpes simplex virus-1 (HSV-1) infection and that altered SRSF2 expression in turn epigenetically regulates HSV-1 gene transcription. These results suggest that SRSF2 acts as an important sensor and effector during disease progression (Li K et al. 2021).

Furthermore, SRSF2 has been shown to be an important regulator of HPV16 oncoprotein expression. HPV16 infection results in overexpression of SRSF 1, 2, and 3 (McFarlane M et al (2015).

Diseases associated with SRSF2 include Aggressive Systemic Mastocytosis and Systemic Mastocytosis with Associated Hematologic Neoplasm (Hanssens K et al. 2014). An important paralog of this gene is SRSF8.

1. Li K et al (2021) Splicing factor SRSF2-centric gene regulation. Int J Biol Sci 17:1708-1715.
2. McFarlane M et al (2015) Human papillomavirus 16 oncoprotein expression is controlled by the cellular splicing factor SRSF2 (SC35). J Virol 89:5276-5287
3. Hanssens K et al (2014) SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulatory genes. Haematologica 99:830-835.