Overview

Location [1]
17q25.1
Pathway
RNA splicing
Protein [2]
Serine/arginine-rich splicing factor 2
Synonyms [1]
SC35, SFRS2, SC-35, PR264, SRp30b, SFRS2A

Serine/arginine-rich splicing factor 2 (SRSF2) is a gene that codes for one of several serine/arginine-rich splicing factors, serine/arginine-rich splicing factor 2. SRSF2 is a member of the spliceosome and is involved in mRNA processing (Gene 2014). Spliceosome mutations are observed in MDS, chronic lymphocytic leukemia (CLL), AML, and chronic myelomonocytic leukemia (CMML), and these mutations can cause abnormal expression patterns of some genes involved in cancer pathogenesis (PMID: 23327988).

SRSF2 is altered in 1.26% of all cancers with leukemia, myelodysplastic syndromes, breast carcinoma, non-small cell lung carcinoma, and colorectal adenocarcinoma having the greatest prevalence of alterations [3].

SRSF2 GENIE Cases - Top Diseases

The most common alterations in SRSF2 are SRSF2 Mutation (0.99%), SRSF2 Codon 95 Missense (0.49%), SRSF2 P95H (0.24%), SRSF2 Amplification (0.14%), and SRSF2 P95L (0.14%) [3].

SRSF2 GENIE Cases - Top Alterations

Significance of SRSF2 in Diseases

Chronic Myelomonocytic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Myelofibrosis +

Multiple Myeloma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Plasma Cell Leukemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.