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.
As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity)
Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with ARID1B/BAF250B. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:11780067, PubMed:11988099, PubMed:12200431, PubMed:15170388, PubMed:22952240, PubMed:26601204, PubMed:8804307).
Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:11734557, PubMed:12200431, PubMed:18765789). In muscle cells, the BAF complex also contains DPF3. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin.
Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). Component of a SWI/SNF-like EBAFa complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCC1/BAF155, SMARCC2/BAF170, BAF250A and MLLT1/ENL (PubMed:12665591). Interacts through its C-terminus with SMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A (PubMed:12200431, PubMed:15170388).
Interacts with SMARCC1/BAF155 (PubMed:15170388). Interacts with FOS, FOSB isoform 1 and 2, FOSL1 and FOSL2 (By similarity)
Highly expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, and PBL, and at a much lower level in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems.
Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.
| Cancer Type | Mutation Percentage |
|---|---|
| Central Nervous System Astrocytoma Grade Iv | 1.61% |
| Lung Adenocarcinoma | 5.50% |
| Lung Small Cell Carcinoma | 2.08% |
| Lung Squamous Cell Carcinoma | 5.17% |
| Oesophagus Adenocarcinoma | 8.05% |
| Oesophagus Squamous Cell Carcinoma | 1.41% |
| Pancreas Ductal Carcinoma | 4.96% |
Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to ARID1A, aggregated across our SSL data sources. Click any partner node to view that gene’s page.
Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.
Total Trials Found: 4
| NCT ID | Condition | Brief Title | Phase | Status |
|---|---|---|---|---|
| NCT05490472 | Solid Tumors, ER+ Breast Cancer, Triple Negative Breast Cancer, TNBC, ARID1A Gene Mutation, Small Cell Lung Cancer, SCLC | JAB-2485 Activity in Adult Patients With Advanced Solid Tumors | PHASE1, PHASE2 | RECRUITING |
| NCT02059265 | Endometrial Clear Cell Adenocarcinoma, Ovarian Clear Cell Cystadenocarcinoma, Recurrent Fallopian Tube Carcinoma, Recurrent Ovarian Carcinoma, Recurrent Primary Peritoneal Carcinoma, Recurrent Uterine Corpus Cancer | Dasatinib in Treating Patients With Recurrent or Persistent Ovarian, Fallopian Tube, Endometrial or Peritoneal Cancer | PHASE2 | TERMINATED |
| NCT05950464 | Recurrent Endometrial Carcinoma, Recurrent Endometrial Clear Cell Adenocarcinoma, Recurrent Endometrial Endometrioid Adenocarcinoma, Recurrent Endometrial Low Grade Endometrioid Adenocarcinoma, Recurrent Ovarian Clear Cell Adenocarcinoma, Recurrent Ovarian Endometrioid Adenocarcinoma, Recurrent Ovarian High Grade Serous Adenocarcinoma, Recurrent Ovarian Low Grade Endometrioid Adenocarcinoma, Recurrent Platinum-Resistant Ovarian Carcinoma | Testing Different Amounts of the Combination of Drugs M1774 and ZEN-3694 for the Treatment of Recurrent Ovarian and Endometrial Cancer | PHASE1 | RECRUITING |
| NCT04957615 | Metastatic Malignant Solid Neoplasm, Unresectable Solid Neoplasm | Nivolumab for the Treatment of Metastatic or Unresectable Solid Tumors With ARID1A Mutation and CXCL13 Expression | PHASE2 | ACTIVE_NOT_RECRUITING |
| NCT05523440 | Recurrent Endometrial Carcinoma, Recurrent Ovarian Carcinoma, ARID1A Gene Mutation | Bevacizumab and/or Niraparib in Patients With Recurrent Endometrial and/or Ovarian Cancer With ARID1A Mutation | PHASE2 | TERMINATED |
| NCT04284202 | NSCLC Stage IV, ARID1A, PD-1 | PD-1 Combined With Dasatinib for as Third-line Treatment for ARID1A Mutation Advanced NSCLC | PHASE2 | UNKNOWN |
| NCT04065269 | Gynaecological Cancers | ATr Inhibitor in Combination With Olaparib/Durvalumab (MEDI4736) in Gynaecological Cancers With ARId1A Loss or no Loss | PHASE2 | ACTIVE_NOT_RECRUITING |
| NCT05023655 | Solid Tumor, ARID1A Gene Mutation | Phase II Study of Tazemetostat in Solid Tumors Harboring an ARID1A Mutation | PHASE2 | TERMINATED |
| NCT04872036 | Bladder Cancer | Prognostic Biomarkers in Patients With Urothelial Carcinoma | N/A | COMPLETED |
| NCT06824363 | Solid Tumor, Adult, Malignant Solid Tumor, Stomach Adenocarcinoma, Esophageal Adenocarcinoma | ProofPrincip IntraTu TCells SinglDoseImmunCheckpoinInhib Gastro-Esophage Adenocarcinoma w/ARID1a Mu | EARLY_PHASE1 | NOT_YET_RECRUITING |