ZRSR2
Overview
ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2) encodes an essential splicing factor that participates in the recognition of 3’ splice sites during pre-mRNA splicing. Somatic loss-of-function mutations in ZRSR2 are recurrently observed in myeloid malignancies, where they define part of the chromatin-spliceosome genomic subgroup in acute myeloid leukemia (AML) and are associated with adverse prognosis.
Alterations observed in the corpus
- Splicing factor mutation in AML; part of the chromatin-spliceosome subgroup alongside SF3B1, U2AF1, and SRSF2; subgroup confers adverse prognosis with 84% of patients reclassified from ELN intermediate to adverse risk based on observed outcomes PMID:27276561
Cancer types (linked)
- AML — recurrent mutation in the chromatin-spliceosome genomic subgroup; associated with adverse prognosis and ELN risk reclassification PMID:27276561
Co-occurrence and mutual exclusivity
Therapeutic relevance
- No approved targeted therapies. The chromatin-spliceosome subgroup defined by ZRSR2 and co-occurring mutations represents a high-risk AML population for whom allogeneic transplantation may be preferred based on adverse outcome data PMID:27276561
Open questions
- ZRSR2 is X-linked; the functional consequences of hemizygous versus homozygous loss and potential sex-specific effects in AML require further study.
Sources
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