Overview

Location [1]
1q21.2
Protein [2]
Myomegalin
Synonyms [1]
CMYA2, MMGL

Phosphodiesterase 4D interacting protein (PDE4DIP) is a gene that encodes a protein that functions in anchoring phosphodiesterase 4D to the Golgi/centrosome region of the cell. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, lung cancer, and skin cancer.

PDE4DIP is altered in 0.93% of all cancers with breast invasive ductal carcinoma, mixed lobular and ductal breast carcinoma, breast invasive lobular carcinoma, high grade ovarian serous adenocarcinoma, and breast neoplasm having the greatest prevalence of alterations [3].

PDE4DIP GENIE Cases - Top Diseases

The most common alterations in PDE4DIP are PDE4DIP Amplification (13.51%), PDE4DIP-NTRK1 Fusion (0.05%), PDE4DIP L353F (0.15%), PDE4DIP A1324S (0.17%), and PDE4DIP N530S (0.17%) [3].

PDE4DIP GENIE Cases - Top Alterations

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.