Overview

Location [1]
16q23.3
Protein [2]
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2
Synonyms [1]
FCAS3, PLC-IV, PLC-gamma-2, APLAID

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 1.52% of all cancers with colon adenocarcinoma, lung adenocarcinoma, prostate adenocarcinoma, cutaneous melanoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

PLCG2 GENIE Cases - Top Diseases

The most common alterations in PLCG2 are PLCG2 Mutation (1.00%), PLCG2 Loss (0.18%), PLCG2 Amplification (0.01%), PLCG2 E825K (0.01%), and PLCG2 R1071H (0.01%) [3].

PLCG2 GENIE Cases - Top Alterations

Significance of PLCG2 in Diseases

Chronic Lymphocytic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Waldenstrom Macroglobulinemia +

Non-Small Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

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 6. 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.