Gene affected:
ZRSR2 - Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2
Clinical significance
Associated with MDS, AML and CMML cases, however the prognostic implications are unclear at present.

Function of gene

ZRSR2 forms part of the spliceosome complex. Spliceosome mutations are thought to promote malignancy through missplicing of genes involved in epigenetic regulation, transcription, and genome integrity.

NGS panel gene coverage

Full sequence


MDS (8%)
Associated with non ring-sideroblast type MDS. There has been a suggestion it is associated with higher blast counts and transformation to AML, but this has not been substantiated in all studies.
AML (~3%)
Prognostic implications are unclear
CMML (~8%)
No clear prognostic implications recognised at this time

Associated genetic features: Often associated with TET2 which may affect the prognosis. Mutually exclusive with SFSF2 and U2AF1.


GeneWiki link:
Gene Wiki entry for ZRSR2
1. ZRSR2 in MDS