Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
12q12
Protein [2]
AT-rich interactive domain-containing protein 2
Synonyms [1]
p200, BAF200, CSS6

AT rich interactive domain 2 (ARID; RFX-like) (ARID2) is a gene that encodes a protein that functions in a chromatin remodeling complex to promote gene transcription. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as intestinal cancer, liver cancer, and lung cancer.

ARID2 is altered in 3.33% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, cutaneous melanoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

ARID2 GENIE Cases - Top Diseases

The most common alterations in ARID2 are ARID2 Mutation (3.78%), ARID2 Amplification (0.22%), ARID2 Loss (0.05%), ARID2 R314C (0.05%), and ARID2 S297F (0.04%) [3].

ARID2 GENIE Cases - Top Alterations

Significance of ARID2 in Diseases

Melanoma +

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 6. 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.