Overview

Location [1]
17q25.1
Pathway
RNA splicing
Synonyms [1]
SRp30b, SFRS2A, PR264, SFRS2, SC35, SC-35

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).

Significance of SRSF2 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Secondary Acute Myeloid Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Multiple Myeloma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic/Myeloproliferative Neoplasm +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myelofibrosis +

Myeloid Neoplasm +

Plasma Cell Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. 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 8. 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.