Overview

Location [1]
Xp22.2
Pathway
RNA splicing
Protein [2]
U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2
Synonyms [1]
U2AF1RS2, ZC3H22, URP, U2AF1-RS2, U2AF1L2

Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2) is a gene that encodes for a member of the spliceosome, U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2. The protein coded by this gene associates with the U2 auxiliary factor, which plays an important role in RNA splicing (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).

ZRSR2 is altered in 1.06% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, breast carcinoma, leukemia, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

ZRSR2 GENIE Cases - Top Diseases

The most common alterations in ZRSR2 are ZRSR2 Mutation (0.70%), ZRSR2 Loss (0.17%), ZRSR2 Amplification (0.07%), ZRSR2 Frameshift (0.07%), and ZRSR2 Nonsense (0.07%) [3].

ZRSR2 GENIE Cases - Top Alterations

Significance of ZRSR2 in Diseases

Myelodysplastic Syndromes +

Acute Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

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.