Overview

Location [1]
7q21.11
Protein [2]
Protein piccolo
Synonyms [1]
PCH3, ACZ

Piccolo presynaptic cytomatrix protein (PCLO) is a gene that encodes a protein that functions as a component of the presynaptic cytoskeletal matrix. This matrix is important for forming active synaptic zones and participates in synaptic vessel trafficking. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as esophageal cancer, skin cancer, and stomach cancer.

PCLO is altered in 0.63% of all cancers with lung adenocarcinoma, colon adenocarcinoma, melanoma, rectal adenocarcinoma, and pancreatic adenocarcinoma having the greatest prevalence of alterations [3].

PCLO GENIE Cases - Top Diseases

The most common alterations in PCLO are PCLO S520P (0.67%), PCLO E2925D (0.58%), PCLO P486S (0.50%), PCLO T507A (0.33%), and PCLO K2442fs (0.25%) [3].

PCLO 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.