Overview

Location [1]
1p36.22
Protein [2]
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform
Synonyms [1]
IMD14, P110DELTA, APDS, PI3K, p110D

Phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta (PIK3CD) is a gene that encodes a protein that function in the immune response and the phosphorylation of inositol lipids. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

PIK3CD is altered in 1.35% of all cancers with colon adenocarcinoma, conventional glioblastoma multiforme, lung adenocarcinoma, breast invasive ductal carcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

PIK3CD GENIE Cases - Top Diseases

The most common alterations in PIK3CD are PIK3CD Mutation (0.66%), PIK3CD Loss (0.20%), PIK3CD Amplification (0.03%), PIK3CD E1021K (0.02%), and PIK3CD R300C (0.02%) [3].

PIK3CD GENIE Cases - Top Alterations

Significance of PIK3CD 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.