Overview

Location [1]
19q13.42
Protein [2]
Splicing factor U2AF 65 kDa subunit
Synonyms [1]
U2AF65

U2 small nuclear RNA auxiliary factor 2 (U2AF2) is a gene that encodes a protein that functions in the splicing of pre-RNA and coupling transcription to splicing. Missense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

U2AF2 is altered in 0.14% of all cancers with diffuse large B-cell lymphoma, not otherwise specified, mantle cell lymphoma, follicular lymphoma, colon adenocarcinoma, and chronic myelomonocytic leukemia having the greatest prevalence of alterations [3].

U2AF2 GENIE Cases - Top Diseases

The most common alterations in U2AF2 are U2AF2 Amplification (0.26%), U2AF2 D231N (0.09%), U2AF2 I191_K195del (0.09%), U2AF2 K195R (0.05%), and U2AF2 Loss (0.05%) [3].

U2AF2 GENIE Cases - Top Alterations

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.