ARID1A
Chr 1ADAT-rich interaction domain 1A
Also known as: B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14
This gene encodes 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. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ARID1A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Efficacy and Safety of the Valemetostat in Patients With Selected Solid Tumors.
RECRUITINGStudy of Tuvusertib (M1774) in Combination With DNA Damage Response Inhibitor or Immune Checkpoint Inhibitor (DDRiver Solid Tumors 320)
ACTIVE NOT RECRUITINGATr Inhibitor in Combination With Olaparib/Durvalumab (MEDI4736) in Gynaecological Cancers With ARId1A Loss or no Loss
ACTIVE NOT RECRUITINGCurrent Status of Diagnosis and Treatment of Uroepithelial Carcinoma
NOT YET RECRUITINGARID1A and/or KDM6A Mutation and CXCL13 Expression
ACTIVE NOT RECRUITINGNiraparib Monotherapy as Maintain and Recurrent Treatment of Endometrial Serous Carcinoma
RECRUITINGTR115 in ARID1A-Mutated Advanced Solid Tumors
NOT YET RECRUITINGAvelumab and M1774 in ARID1A-mutated Endometrial Cancer
RECRUITINGTesting Different Amounts of the Combination of Drugs M1774 and ZEN-3694 for the Treatment of Recurrent Ovarian and Endometrial Cancer
RECRUITINGTesting the Addition of an Anti-cancer Drug, Sapanisertib, to the Usual Chemotherapy Treatment (Cabozantinib) in Metastatic Liver Cell Cancer With a Change in Genes for the Protein β-Catenin, The SAPHIRE Trial
RECRUITINGJAB-2485 Activity in Adult Patients With Advanced Solid Tumors
RECRUITINGExternal Resources
Links to major genomics databases and tools