Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
9p13.2
Protein [2]
Paired box protein Pax-5
Synonyms [1]
ALL3, BSAP

Paired box 5 (PAX5) is a gene that encodes a transcription factor protein that is a member of the paired box family. The protein functions in transcriptional regulation during early development, neural development, spermatogenesis, and many other cellular processes. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift insertions and deletions are observed in cancers such as endometrial cancer, hematopoietic and lymphoid cancers, and intestinal cancer.

PAX5 is altered in 1.35% of all cancers with lung adenocarcinoma, colon adenocarcinoma, conventional glioblastoma multiforme, cutaneous melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

PAX5 GENIE Cases - Top Diseases

The most common alterations in PAX5 are PAX5 Mutation (0.85%), PAX5 Loss (0.23%), PAX5 Amplification (0.17%), PAX5 V26G (0.04%), and PAX5-JAK2 Fusion (0.12%) [3].

PAX5 GENIE Cases - Top Alterations

Significance of PAX5 in Diseases

Mantle Cell Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia +

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.