ARID1A is a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes.

Mar 30, 2025 · ARID1A (AT-Rich Interaction Domain 1A) is a Protein Coding gene. Diseases associated with ARID1A include Coffin-Siris Syndrome 2 and Coffin-Siris Syndrome 1. Among its related pathways are Gene expression (Transcription) and MITF-M-dependent gene expression.

ARID1A gene alterations result in loss of function. It is the most commonly mutated member of the SWI/SNF complex, being aberrant in ∼6% of cancers overall, including ovarian clear cell cancers (∼45% of patients) and uterine endometrioid cancers (∼37%).

Sep 1, 2023 · Endocervical-type mucinous borderline tumors may be related to endometrioid tumors based on mutation and loss of expression of ARID1A (Int J Gynecol Pathol 2012;31:297)

The ARID1A gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. Learn about this gene and related health conditions.

May 15, 2024 · ARID1A loss in tumor cells triggers anti-tumor immunity via R-loop-derived cytosolic DNA and activation of the STING-type I interferon pathway, defining a molecular mechanism underlying ARID1A mutant anti-tumor immunity and immunotherapy response observed clinically.

Jun 10, 2024 · Loss of ARID1A leads to DNA repair defects. Here, we show that ARID1A plays epigenetic roles to promote both DNA double-strand breaks (DSBs) repair pathways, non-homologous end-joining (NHEJ) and homologous recombination (HR).

ARID1A regulates DNA repair through chromatin organization and its deficiency triggers DNA damage-mediated anti-tumor immune response. Treatments, prognostic factors, and genetic heterogeneity in advanced cholangiocarcinoma: A multicenter real-world study. Deep-targeted gene sequencing reveals ARID1A mutation as an important driver of glioblastoma.

Jan 23, 2025 · Functional experiments in BCL2-translocated lymphoma cells demonstrated that ARID1A is directly involved in the regulation of FAS, and ARID1A loss leads to decreased FAS protein and gene...

May 7, 2018 · Tumors formed by an ARID1A-deficient ovarian cancer cell line in syngeneic mice displayed increased mutation load, elevated numbers of tumor-infiltrating lymphocytes, and PD-L1 expression.