Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
18q12.3
Protein [2]
Phosphatidylinositol 3-kinase catalytic subunit type 3
Synonyms [1]
VPS34, Vps34, hVps34

Phosphatidylinositol 3-kinase, catalytic subunit type 3 (PIK3C3) is a gene that encodes a protein that functions as a catalytic subunit of the PI3K protein complex. The protein facilitates the formation of phosphatidylinositol 3-phosphate - a protein that regulates the developmental stages of autophagosomes. The protein is also involved in the transport of lysosomal enzymes and cytokinesis. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

PIK3C3 is altered in 0.22% of all cancers with breast invasive ductal carcinoma, colon adenocarcinoma, lung adenocarcinoma, and rectal adenocarcinoma having the greatest prevalence of alterations [3].

PIK3C3 GENIE Cases - Top Diseases

The most common alterations in PIK3C3 are PIK3C3 Loss (0.10%) and PIK3C3 Amplification (0.05%) [3].

PIK3C3 GENIE Cases - Top Alterations

Significance of PIK3C3 in Diseases

Malignant Solid Tumor +

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.