Overview

Location [1]
11q14.2
Protein [2]
Phosphatidylinositol-binding clathrin assembly protein
Synonyms [1]
CALM, CLTH, LAP

Phosphatidylinositol binding clathrin assembly protein (PICALM) is a gene that encodes a protein that functions as a clathrin assembly protein. The protein may also regulate the size of the clathrin cage to control the amount of membrane recycled. Fusions, missense mutations, nonsense mutations, and silent mutations are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

PICALM is altered in 0.03% of all cancers with breast invasive ductal carcinoma, colorectal adenocarcinoma, dedifferentiated liposarcoma, Erdheim-Chester disease, and head and neck squamous cell carcinoma having the greatest prevalence of alterations [3].

PICALM GENIE Cases - Top Diseases

The most common alterations in PICALM are PICALM A591E (0.30%), PICALM R342L (0.30%), PICALM S293F (0.30%), PICALM T606R (0.30%), and PICALM V17G (0.26%) [3].

PICALM 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.