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ARID1A (AT-rich interactive domain-containing protein 1A) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Colorectal cancer, Endometrial cancer and 5 more.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically.
CIViC holds 14 clinical evidence items and 0 assertions across 7 variants, naming Dasatinib, Sorafenib, Nivolumab and Pembrolizumab and others. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes literature 1.00, affected pathway 0.89, genetic association 0.57, somatic mutation 0.98). IntOGen calls it a driver in 90 cohorts (1 activating, 89 loss-of-function), covering Burkitt Lymphoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cervical Squamous Cell Carcinoma, Cholangiocarcinoma and others.
In plain words · ARID1A (AT-rich interactive domain-containing protein 1A) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Colorectal cancer, Endometrial cancer and 5 more.
ARID1A (AT-rich interactive domain-containing protein 1A) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Colorectal cancer, Endometrial cancer and 5 more.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).
No product in this corpus aims at ARID1A yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ARID1A: RNA low tissue specificity; high antibody staining in 14 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 9 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Bladder & urothelial cancer, Colorectal cancer, Endometrial cancer, Gastric & gastro-oesophageal junction cancer, Breast cancer (all types), Lung cancer (all types) and more); Open Targets associates it with 13 specific cancer types at or above 0.5 (urinary bladder cancer, hepatocellular carcinoma, urinary bladder carcinoma, gastric adenocarcinoma, colorectal adenocarcinoma, breast adenocarcinoma and more). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt O14497; CIViC gene ARID1A; IntOGen ARID1A; Human Protein Atlas ARID1A tissue; Open Targets ENSG00000117713 associations
First described 1997. Earliest sequence paper UniProt cites for the protein: Takeuchi et al, Gene, 1997, "Molecular cloning and expression of a novel human cDNA containing CAG repeats". Source.
Sources: HGNC HGNC:11110 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt O14497 (protein name, function text, keywords and locations (REST API)); CIViC gene ARID1A (14 evidence items, 0 assertions, 7 variants; diseases: Ovarian Clear Cell Carcinoma, Colorectal Cancer, Ovarian Cancer, Stomach Cancer, Diffuse Large B-cell Lymphoma and 4 more (GraphQL API, CC0)); Open Targets ENSG00000117713 (association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.65, colorectal cancer 0.74, gastric cancer 0.69, oesophageal cancer 0.62, hepatocellular carcinoma 0.67, cholangiocarcinoma 0.53 (GraphQL API, CC0)); IntOGen ARID1A (driver in 90 cohorts (Act 1, LoF 89); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. Location: Nucleus (UniProt). Locus 1p36.11 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Adrenal gland, Appendix, Breast, Colon, Duodenum, Epididymis, Esophagus, Fallopian tube.
Medium only: breast cancer, ovarian cancer, renal cancer, stomach cancer.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
| Cancer | Prevalence | Measure | Note | Source |
|---|---|---|---|---|
| Gallbladder cancer | 13-25% | Mutation (loss of function) | 13% of 85 (Javle 2016); mutation in 50 of 244 samples, 20.5%, in cBioPortal gbc_mskcc_2022 and 26 of 103, 25.2%, in gbc_msk_2018; significantly lower in 376 Indian patients (Suryavanshi 2025) and absent from the 11 Japanese tumours in Narayan 2019; among the 32 significantly mutated biliary genes in Wardell 2018. | doi.org |
| Colorectal cancer | 9-13% | Inactivating mutation | cBioPortal: 912 of 7,237, 12.6%, in crc_msk_2026; 104 of 1,134, 9.2%, in crc_msk_2017; 136 of 1,516, 9.0%, in crc_eo_2020; 58 of 534, 10.9%, in coadread_tcga_pan_can_atlas_2018; 67 of 619, 10.8%, in coadread_dfci_2016. KMT2D reads 805 of 7,237 and KMT2C 605 of 7,237 in the same study. | cBioPortal (TCGA) |
| Pancreatic ductal adenocarcinoma | 5-9% | Inactivating mutation (SWI/SNF and chromatin genes) | cBioPortal: 204 of 2,336, 8.7%, in pdac_msk_2024; 35 of 395, 8.9%, in pancreas_msk_2024; 29 of 383, 7.6%, in paad_qcmg_uq_2016; 9 of 179, 5.0%, in paad_tcga_pan_can_atlas_2018; 8 of 140 in paad_cptac_2021; 7 of 109 in paad_utsw_2015. KMT2C 73, KMT2D 100, SMARCA4 52, PBRM1 32 and ARID2 30 of 2,336 in the same study. Chromatin-regulating gene mutations (MLL, MLL2, MLL3, ARID1A) in 20% of 101 patients were associated with improved survival (Sausen 2015); ARID1A was a significantly mutated gene in 99 exomes (Biankin 2012) and a recurrent gene in TCGA (Cancer Genome Atlas 2017). | cBioPortal (TCGA) |
Approximate, population-level figures; the measure column says what was counted. Ranges show the midpoint as a bar.
HER2 is as frequent in India as in the West, so HER2 testing pays off in the highest-incidence population, while tumour-agnostic immunotherapy markers will rarely apply. The paper also shows plasma testing is feasible where tissue is scarce.
Evidence that the immune environment of gallbladder cancer differs by population even when the mutations do not; a reason to report gallbladder cancer and its regions separately in immunotherapy trials rather than as one biliary subgroup.
Regional biology is real but partial: exposures and age differ, some genes differ, and SMAD4 loss emerges as the shared bad-prognosis marker. It is the paper behind the MSK 2018 gallbladder study on cBioPortal (gbc_msk_2018).
The germline finding is the practical lesson: a meaningful minority of biliary cancer patients carry inherited repair-gene mutations that matter for PARP inhibitor eligibility and for their relatives, which argues for germline testing alongside tumour sequencing.
It is the reference multi-platform dataset and the reason a KRAS wild-type report is treated as a search for another driver rather than as an absence.
The clearest early head-to-head of the three biliary sites on one platform: for gallbladder cancer it made HER2 the target to test for and showed that IDH and FGFR inhibitors would rarely apply.
With Moffitt's classical and basal-like split (the squamous and basal-like groups overlap) this fixed the molecular vocabulary of the disease and gave Precision-Panc and the UK's Glasgow group their trial framework.
The first demonstration that molecular residual disease can be read in pancreatic cancer and that it moves months ahead of the scan.
Query for this target: (TITLE:"ARID1A" OR ABSTRACT:"ARID1A" OR TITLE:"AT-rich interaction domain 1A" OR ABSTRACT:"AT-rich interaction domain 1A" OR TITLE:"AT-rich interactive domain-containing protein 1A" OR ABSTRACT:"AT-rich interactive domain-containing protein 1A" OR TITLE:"B120" OR ABSTRACT:"B120" OR TITLE:"P270" OR ABSTRACT:"P270" OR TITLE:"C10rf4" OR ABSTRACT:"C10rf4") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about ARID1A, not a curated reading list.
Shares Regional differences in gallbladder cancer pathogenesis: insights from a multi-institutional comparison of tumor mutations, Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations, Biliary cancer: utility of next-generation sequencing for clinical management, Genomic profiling of Indian gallbladder carcinoma: mutational insights in a high-incidence population.
Shares Comprehensive molecular characterization of human colon and rectal cancer, Endometrial cancer, CIViC, IntOGen.
Shares Genomic analyses identify molecular subtypes of pancreatic cancer, Bladder & urothelial cancer, Hepatocellular carcinoma, CIViC.
Shares Clinical implications of genomic alterations in the tumour and circulation of pancreatic cancer patients, Bladder & urothelial cancer, CIViC, IntOGen.
Shares Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes, Integrated genomic characterization of pancreatic ductal adenocarcinoma, IntOGen, Gastric & gastro-oesophageal junction cancer.
Shares Integrated genomic characterization of pancreatic ductal adenocarcinoma, Bladder & urothelial cancer, Hepatocellular carcinoma, CIViC.
Shares Clinical implications of genomic alterations in the tumour and circulation of pancreatic cancer patients, Bladder & urothelial cancer, CIViC, IntOGen.
Shares Integrated genomic characterization of pancreatic ductal adenocarcinoma, Genomic analyses identify molecular subtypes of pancreatic cancer, Endometrial cancer, IntOGen.