Overview

Location [1]
1q32.1
Protein [2]
Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta
Synonyms [1]
C2-PI3K

Phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta (PIK3C2B) is a gene that encodes a protein that plays a role in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. Missense mutations, silent mutations, nonsense mutations, frameshift deletions, and frameshift insertions are observed in cancers such as skin cancer, stomach cancer, and colon cancer.

PIK3C2B is altered in 3.59% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, conventional glioblastoma multiforme, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

PIK3C2B GENIE Cases - Top Diseases

The most common alterations in PIK3C2B are PIK3C2B Mutation (1.52%), PIK3C2B Amplification (0.20%), PIK3C2B G1435R (0.02%), PIK3C2B E1595Q (0.02%), and PIK3C2B A1441V (0.01%) [3].

PIK3C2B GENIE Cases - Top Alterations

Significance of PIK3C2B in Diseases

Melanoma +

Glioblastoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Malignant Glioma +

Non-Small Cell Lung Carcinoma +

Malignant Solid Tumor +

Sarcoma +

Ovarian Carcinoma +

Breast Carcinoma +

Lymphoma +

Pancreatic Carcinoma +

Anaplastic Astrocytoma +

Head And Neck Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20171026. 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.