Biomarkers /
PLCG2
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Overview
Phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2) is a gene that encodes a protein that functions as a transmembrane signaling enzyme. The protein is important in the catalytic conversion of 1-phosphatidyl-1D-myo-inositol 4, 5-bisphosphate to 1D-myo-inostiol 1, 4, 5-triphosphate (IP3) and diacylglycerol (DAG). These products transmit signals from growth factor receptors and immune system receptors. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and parathyroid cancer.
PLCG2 is altered in 2.26% of all cancers with colon adenocarcinoma, lung adenocarcinoma, prostate adenocarcinoma, cutaneous melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].
The most common alterations in PLCG2 are PLCG2 Mutation (1.80%), PLCG2 Loss (0.37%), PLCG2 Amplification (0.04%), PLCG2 R727Q (0.03%), and PLCG2 R732C (0.02%) [3].
Clinical Trials
Significance of PLCG2 in Diseases
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.
