Overview

Location [1]
17q23.1
Protein [2]
Clathrin heavy chain 1
Synonyms [1]
CLTCL2, CLH-17, MRD56, CHC, Hc, CHC17

Clathrin, heavy chain (Hc) (CLTC) is a gene that encodes a protein that functions as a component of the cytoplasmic face of intracellular organelles (coated vesicles and coated pits). The organelles are important for the intracellular trafficking of receptors and the endocytosis of macromolecules. Fusions, missense mutations, nonsense mutations, silent mutations are observed in cancers such as breast cancer, intestinal cancer, and ovarian cancer.

CLTC is altered in 0.11% of all cancers with lung adenocarcinoma, pancreatic adenocarcinoma, dedifferentiated liposarcoma, breast invasive ductal carcinoma, and esophagogastric carcinoma having the greatest prevalence of alterations [3].

CLTC GENIE Cases - Top Diseases

The most common alterations in CLTC are CLTC-ROS1 Fusion (0.10%), CLTC-ALK Fusion (0.04%), CLTC Mutation (3.34%), CLTC A1239E (0.30%), and CLTC A596fs (0.30%) [3].

CLTC 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.