Overview

Inositol polyphosphate-5-phosphatase (INPP5D) is a gene that encodes a protein that utilizes hydrolysis of the 5' phosphate from phosphatidylinositol (3, 4, 5)-triphosphate and inositol-1, 3, 4, 5-tetrakisphosphate to alter/affect cell signaling pathways. Specifically, the protein may function in nuclear inositol phosphate signaling. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

Significance of INPP5D in Diseases

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.