Overview

Location [1]
15q26.1
Protein [2]
Chromodomain-helicase-DNA-binding protein 2
Synonyms [1]
EEOC

Chromodomain helicase DNA binding protein 2 (CHD2) is a gene that encodes a protein that functions in the alteration of gene expression by modifying chromatin structure. This alters access of the transcriptional apparatus to its chromosomal DNA template. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions are observed in cancers such as intestinal cancer, pituitary cancer, and skin cancer.

CHD2 is altered in 1.43% of all cancers with colon adenocarcinoma, conventional glioblastoma multiforme, cutaneous melanoma, lung adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

CHD2 GENIE Cases - Top Diseases

The most common alterations in CHD2 are CHD2 Mutation (2.48%), CHD2 Amplification (0.64%), CHD2 P1353L (0.10%), CHD2 E457* (0.11%), and CHD2 P405L (0.25%) [3].

CHD2 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.