Affinage

ARID1B

AT-rich interactive domain-containing protein 1B · UniProt Q8NFD5

Length
2319 aa
Mass
243.9 kDa
Annotated
2026-04-28
100 papers in source corpus 32 papers cited in narrative 31 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ARID1B is a dedicated, mutually exclusive DNA-binding subunit of the canonical BAF (cBAF) chromatin-remodeling complex that functions as a master epigenetic regulator of cell fate decisions, proliferation, and DNA repair across diverse lineages. It directly binds BRG1/SMARCA4 via its C-terminal EHD2 domain and DNA via its ARID domain (which harbors a unique β-sheet absent in ARID1A), stabilizes cBAF integrity—complete loss of both ARID1A and ARID1B disassembles the complex—and controls chromatin accessibility at lineage-specific loci including those governing pluripotency exit during neural crest specification (attenuating NANOG/SOX2 enhancers), GABAergic interneuron development (promoting H3K9ac at Pvalb), myelopoiesis, mesenchymal stem cell quiescence (repressing BCL11B/non-canonical Activin signaling), and erythropoiesis (PMID:11988099, PMID:34386776, PMID:34753942, PMID:29184203, PMID:37611161, PMID:38816354, PMID:35672450). ARID1B additionally represses Wnt/β-catenin and mTOR transcriptional programs, promotes NHEJ-mediated DNA double-strand break repair by recruiting SWI/SNF to damage sites, and interacts with the lncRNA NEAT1 to couple paraspeckle function to chromatin regulation (PMID:26340334, PMID:36681308, PMID:24788099, PMID:36354291). Pathogenic missense mutations in the ARID and EHD2 domains cause protein misfolding and aggresome formation rather than simple loss-of-function, and cytoplasmic mislocalization of ARID1B confers a gain-of-oncogenic function by activating RAF-ERK signaling; Coffin–Siris syndrome arises from ARID1B haploinsufficiency that disrupts the ARID1A-to-ARID1B subunit switch required for neural lineage commitment (PMID:38347147, PMID:33443092, PMID:34753942).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2002 High

    Identifying ARID1B as a direct BRG1-binding SWI/SNF subunit established its physical basis for chromatin-remodeling function and defined the EHD2 domain as the interaction surface.

    Evidence Co-immunoprecipitation with domain mapping and endogenous complex detection from mouse brain

    PMID:11988099

    Open questions at the time
    • No genome-wide occupancy data
    • Functional consequence of EHD1–EHD2 intramolecular interaction unknown
    • No structural model of the ARID1B–BRG1 interface
  2. 2008 High

    Demonstrating that biallelic ARID1B loss impairs ES cell self-renewal established that the ARID1B-containing BAF complex is required for maintaining pluripotency, not merely a structural component.

    Evidence Biallelic knockout in mouse ES cells with proliferation and gene expression analysis

    PMID:18323406

    Open questions at the time
    • Downstream gene targets not identified genome-wide
    • Relationship to ARID1A-containing complexes not addressed
  3. 2014 High

    Establishing mutual exclusivity with ARID1A and synthetic lethality upon dual loss resolved how the two paralogs partition cBAF function and revealed a therapeutically exploitable dependency in ARID1A-mutant cancers.

    Evidence RNAi in genetically defined cancer cell lines with Co-IP showing complex destabilization across multiple lines

    PMID:24562383

    Open questions at the time
    • Genomic targets uniquely controlled by ARID1B-BAF vs. ARID1A-BAF not defined
    • Mechanism of complex destabilization not structurally resolved
  4. 2014 High

    Showing that ARID1B is required for KU70/KU80 recruitment to double-strand breaks and NHEJ efficiency expanded its role beyond transcription to DNA repair, explaining radiation and cisplatin sensitivity upon loss.

    Evidence Live-cell laser-induced DSB recruitment, NHEJ reporter assays, clonogenic survival after siRNA knockdown

    PMID:24788099

    Open questions at the time
    • Direct physical contacts between ARID1B-BAF and NHEJ factors not mapped
    • Relative contributions of ARID1A vs. ARID1B to repair not quantified
  5. 2015 High

    Demonstrating that ARID1B associates with β-catenin via BRG1 and represses Wnt-dependent transcription linked the cBAF complex to a major developmental signaling pathway and explained neurite outgrowth phenotypes.

    Evidence Co-IP of ARID1B with β-catenin, luciferase Wnt reporters, domain-deletion mutants, siRNA phenotypes in neuroblastoma

    PMID:26340334

    Open questions at the time
    • Direct vs. indirect β-catenin binding not distinguished
    • Wnt target gene specificity not mapped genome-wide
  6. 2016 High

    Placing ARID1B downstream of STAT3 and upstream of β-catenin in neurofibroma initiation demonstrated that ARID1B transcription is itself regulated by oncogenic signaling, creating a feedforward loop.

    Evidence Genetic epistasis with in vivo rescue in Stat3/Nf1 conditional KO mice, ChIP for histone modifications at Arid1b locus

    PMID:26904939

    Open questions at the time
    • Whether STAT3 directly binds the Arid1b promoter not definitively shown
    • Generalizability beyond Schwann cell lineage untested
  7. 2017 High

    Arid1b haploinsufficiency reducing cortical interneuron number through impaired progenitor proliferation and decreased H3K9ac at the Pvalb promoter provided the first epigenetic mechanism for ARID1B's role in excitatory/inhibitory balance and autism-like behavior.

    Evidence Arid1b+/- mice with BrdU proliferation, ChIP-H3K9ac, interneuron immunostaining, pharmacological GABAA rescue

    PMID:29184203

    Open questions at the time
    • Whether ARID1B directly binds the Pvalb promoter or acts indirectly not resolved
    • Genome-wide H3K9ac changes not profiled in interneurons specifically
  8. 2020 High

    Systematic analysis of dual ARID1A/ARID1B loss showed that residual cBAF subcomplexes poison pBAF function and that 37/69 cancer-derived ARID1 mutations disassemble the complex, unifying oncogenesis mechanisms across tissues.

    Evidence Double-KO mouse models (liver, skin), add-back in endometrial cancer cells, biochemical complex analysis of 69 clinical mutations

    PMID:34386776

    Open questions at the time
    • Structural basis of subcomplexes disrupting pBAF not solved
    • Whether residual subcomplexes have neomorphic chromatin activities unknown
  9. 2021 High

    Demonstrating the ARID1A→ARID1B subunit switch during neural crest specification, and its failure in Coffin–Siris patient iPSCs, established that the disease arises from impaired lineage commitment rather than simple proliferative defects.

    Evidence ChIP-seq for ARID1A/ARID1B occupancy, ATAC-seq, RNA-seq in patient iPSC-to-neural-crest differentiation

    PMID:34753942

    Open questions at the time
    • Signal that triggers the subunit switch not identified
    • Whether switch occurs in non-neural lineages not tested
  10. 2021 High

    Discovering that cytoplasmic mislocalization of ARID1B activates RAF-ERK signaling via direct c-RAF binding revealed a gain-of-function oncogenic mechanism distinct from nuclear loss-of-function.

    Evidence NLS mutant construction, Co-IP with RAF1/PPP1CA, xenograft assays, pancreatic tumor TMA

    PMID:33443092

    Open questions at the time
    • Stoichiometry and structural basis of cytoplasmic ARID1B–RAF1 complex unknown
    • Frequency of NLS mutations in patient cohorts not systematically assessed
  11. 2022 High

    Identification of ARID1B as a direct NEAT1-binding partner coupling paraspeckles to chromatin regulation expanded the functional repertoire of cBAF beyond protein-mediated recruitment to include lncRNA-dependent targeting.

    Evidence Co-IP, RNA pulldown, mass spectrometry interactome, RNA-seq/splicing analysis after ARID1B or NEAT1 depletion

    PMID:36354291

    Open questions at the time
    • RNA-binding domain on ARID1B not mapped
    • Whether other lncRNAs similarly recruit cBAF not tested
  12. 2022 High

    NMR and ITC characterization of the ARID domain revealed a unique β-sheet element and distinct DNA-binding thermodynamics compared to ARID1A, providing a structural basis for paralog-specific target recognition.

    Evidence NMR backbone assignment, chemical shift perturbation mapping, ITC, HADDOCK docking

    PMID:35481652

    Open questions at the time
    • No co-crystal structure with DNA
    • How structural differences translate to genomic locus specificity not demonstrated
  13. 2024 High

    Saturated mutagenesis showed that most pathogenic Coffin–Siris missense mutations cause protein misfolding and aggresome formation rather than reduced expression, redefining the disease mechanism as a proteostasis defect.

    Evidence Saturated mutagenesis screen, fluorescent reporters, aggresome marker immunofluorescence, genome-wide methylation analysis

    PMID:38347147 PMID:39028335

    Open questions at the time
    • Whether aggresomes sequester other BAF subunits not tested
    • Contribution of aggresome toxicity vs. nuclear depletion to phenotype not dissected
  14. 2024 High

    Defining ARID1B's chromatin targets in callosal projection neurons (SATB2+) and myeloid progenitors, with >80% non-overlapping with ARID1A targets, established paralog-specific chromatin programs in vivo.

    Evidence ATAC-seq/RNA-seq in ARID1B+/- neural organoids and hematopoietic-specific Arid1b KO mice with transplantation

    PMID:37611161 PMID:38718796

    Open questions at the time
    • Direct ARID1B ChIP-seq in these lineages not performed
    • Mechanism selecting ARID1B vs. ARID1A for distinct loci unknown
  15. 2024 High

    Mapping the KPNA2-KPNB1-RANBP2 nuclear import pathway for ARID1B and identifying critical NLS residues resolved how ARID1B reaches the nucleus and provided a pharmacologically targetable transport mechanism.

    Evidence MS-based complex identification, site-directed mutagenesis of R1518/H1519/D1522, KPNB1 inhibitor, xenograft models

    PMID:40671262

    Open questions at the time
    • Whether ARID1A uses the same import pathway not determined
    • Therapeutic window of KPNB1 inhibition not established
  16. 2024 High

    Identification of ARID1B as a repressor of BCL11B/non-canonical Activin signaling in mesenchymal stem cells established a new lineage context (MSC quiescence) and defined a complete epistatic circuit from chromatin to secreted ligand.

    Evidence scRNA-seq/scATAC-seq of GLI1+ MSCs, ChIP at Bcl11b intron, epistatic rescue with Bcl11b reduction and Activin inhibition

    PMID:38816354

    Open questions at the time
    • Whether this circuit operates in other quiescent stem cell populations unknown
    • Direct ARID1B binding mechanism at intronic element not structurally resolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include: what signal triggers the ARID1A-to-ARID1B subunit switch, how paralog-specific genomic targeting is achieved at the structural level, whether aggresome formation contributes to Coffin–Siris pathology through toxic gain-of-function or purely through nuclear depletion, and the full catalog of lncRNAs that recruit ARID1B-cBAF to chromatin.
  • No structure of full-length ARID1B or ARID1B-nucleosome complex
  • Cis-regulatory logic determining ARID1B vs. ARID1A locus selection unknown
  • Relative contribution of aggresome toxicity vs. nuclear loss in CSS not tested

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140110 transcription regulator activity 4 GO:0098772 molecular function regulator activity 3 GO:0003677 DNA binding 2 GO:0003723 RNA binding 1
Localization
GO:0005634 nucleus 4 GO:0005694 chromosome 2 GO:0005829 cytosol 2
Pathway
R-HSA-4839726 Chromatin organization 6 R-HSA-1266738 Developmental Biology 5 R-HSA-162582 Signal Transduction 5 R-HSA-74160 Gene expression (Transcription) 5 R-HSA-1640170 Cell Cycle 3 R-HSA-1643685 Disease 3 R-HSA-73894 DNA Repair 2
Partners
BCL11BCTNNB1KPNA2KPNB1NEAT1PPP1CARAF1SMARCA4
Complex memberships
cBAF (canonical BAF/SWI/SNF)

Evidence

Reading pass · 31 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2002 ARID1B (hELD/OSA1) directly binds BRG1 (SMARCA4) through its C-terminal EHD2 domain, and is incorporated into endogenous SWI/SNF complexes; the EHD1 and EHD2 domains can also interact with each other. Biochemical cloning, co-immunoprecipitation, domain mapping, detection of endogenous complex from mouse brain The Biochemical Journal High 11988099
2008 BAF250B (ARID1B)-associated SWI/SNF complex is required for mouse embryonic stem cell self-renewal and normal proliferation; biallelic inactivation of BAF250B reduces pluripotency gene expression and causes aberrant cell cycle. Biallelic knockout of BAF250B in mouse ES cells, colony/proliferation assays, gene expression analysis Stem Cells High 18323406
2011 ARID1A and ARID1B are mutually exclusive subunits of the BAF complex and show distinct cell-cycle expression kinetics: ARID1A accumulates in G0 and is absent during mitosis, whereas ARID1B is expressed at comparable levels throughout all cell cycle phases including mitosis, consistent with differential roles in SWI/SNF-mediated corepression (ARID1A) versus coactivation (ARID1B) of cell-cycle genes. Immunofluorescence, western blotting across cell cycle phases in mouse embryos and cell lines Cell and Tissue Research Medium 21647563
2014 ARID1B is mutually exclusive with ARID1A in SWI/SNF (cBAF) complexes; loss of ARID1B in ARID1A-deficient backgrounds destabilizes SWI/SNF and impairs proliferation, establishing a synthetic lethal relationship. RNAi/shRNA knockdown in cancer cell lines with defined genetic backgrounds, proliferation assays, co-immunoprecipitation to show mutual exclusivity and complex destabilization Nature Medicine High 24562383
2014 Both ARID1A and ARID1B are required for non-homologous end joining (NHEJ) repair of DNA double-strand breaks; suppression of either leads to reduced KU70/KU80 accumulation at DSBs, impaired NHEJ activity, and sensitivity to ionizing radiation, cisplatin, and UV. ARID1A, ARID1B, SNF5, and BAF60c are all necessary for immediate recruitment of the SWI/SNF ATPase subunit to DSBs. Live-cell imaging of DSB repair kinetics, siRNA knockdown, clonogenic survival assays, laser-induced DSB recruitment assays Cancer Research High 24788099
2014 ARID1B haploinsufficiency in patient-derived fibroblasts causes delayed cell cycle re-entry (delayed G1-to-S transition) after serum starvation, indicating a direct role for ARID1B in cell cycle control. Patient-derived fibroblasts with ARID1B deletion and ARID1B knockdown fibroblasts, serum starvation/re-entry assays, flow cytometry Orphanet Journal of Rare Diseases Medium 24674232
2015 ARID1B represses Wnt/β-catenin signaling: ARID1B associates with β-catenin and represses Wnt/β-catenin-dependent transcription via BRG1. Mutations that delete the BRG1-binding domain of ARID1B abolish β-catenin association and fail to suppress Wnt signaling. Knockdown of ARID1B in neuroblastoma cells promotes neurite outgrowth through β-catenin. Transcriptome analysis of patient cells, luciferase reporter assays, co-immunoprecipitation of endogenous and exogenous ARID1B with β-catenin, domain-deletion mutants, siRNA knockdown, neurite outgrowth assays American Journal of Human Genetics High 26340334
2015 ARID1B knockdown in breast cancer cells (MDA-MB-231) delays G1-to-S phase cell cycle transition and decreases cell proliferation. siRNA knockdown, flow cytometry cell cycle analysis, proliferation assays Histopathology Medium 25817822
2016 STAT3 represses Arid1b transcription in Schwann cells through histone modification in a BRG1-dependent manner, thereby increasing β-catenin activity and promoting neurofibroma initiation; knockdown of Arid1b rescues neurofibroma formation in Stat3-null SCPs, placing Arid1b downstream of STAT3 and upstream of β-catenin in this pathway. Insertional mutagenesis screen, mouse genetic models (Stat3 conditional KO, Nf1 KO), in vivo transplantation rescue experiments, ChIP for histone modifications, molecular epistasis Cell Reports High 26904939
2016 ARID1B is required for dendritic arborization and spine morphology of developing cortical and hippocampal pyramidal neurons; ARID1B knockdown suppresses dendritic outgrowth and alters dendritic spine morphology, accompanied by reduced c-Fos and Arc expression. Overexpression of c-Fos and Arc rescues the arborization defects, placing these activity-regulated genes downstream of ARID1B. In utero electroporation knockdown in mice, confocal imaging of dendritic morphology, electrophysiology, rescue experiments with c-Fos/Arc overexpression Journal of Neuroscience High 26937011
2017 Arid1b haploinsufficiency in mice reduces cortical GABAergic interneuron number by suppressing proliferation of interneuron progenitors in the ganglionic eminence, leading to E/I imbalance in the cortex. Mechanistically, Arid1b haploinsufficiency suppresses H3K9 acetylation overall and specifically reduces H3K9ac at the Pvalb promoter, decreasing parvalbumin transcription. Arid1b heterozygous knockout mice, immunostaining for interneuron markers, BrdU proliferation assays, ChIP for H3K9ac, quantitative RT-PCR, behavioral testing with GABAA modulator rescue Nature Neuroscience High 29184203
2017 Arid1b haploinsufficiency leads to IGF1 deficiency with inadequate compensation by GHRH/GH signaling, contributing to growth impairment; GH supplementation corrects growth retardation and muscle weakness in Arid1b heterozygous mice without rescuing behavioral abnormalities. Arid1b heterozygous knockout mice, hormone measurement, pharmacological GH supplementation with growth and behavior readouts eLife Medium 28695822
2018 miR-486-3p directly targets the 3'-UTR of ARID1B and represses ARID1B mRNA and protein expression; overexpression of miR-486-3p decreases ARID1B levels while inhibition increases them in SH-SY5Y neuroblastoma cells. Luciferase 3'-UTR reporter assay, miRNA transfection/inhibitor in SH-SY5Y cells, qRT-PCR and western blot Neuroreport Medium 30260819
2020 Dual ARID1A/ARID1B loss causes carcinogenesis through de-differentiation and hyperproliferation; biochemically, loss of ARID1 scaffolding produces residual cBAF subcomplexes that disrupt pBAF function. Re-introduction of either ARID1A or ARID1B in double-mutant endometrial cancer cells induces senescence. 37 of 69 cancer-derived mutations in conserved ARID1 scaffolding domains cause complex disassembly. Double knockout mouse models (liver, skin), add-back experiments in endometrial cancer cells, biochemical complex analysis, mutagenesis screen of 69 clinical mutations Nature Cancer High 34386776
2020 Arid1b deletion in ventral (inhibitory) neural progenitors causes more pronounced reduction in proliferation, altered cell cycle regulation, and increased apoptosis compared to cortical progenitors; Arid1b deficiency decreases nuclear localization of β-catenin in neurons, linking ARID1B to Wnt/β-catenin nuclear signaling in neural progenitors. Conditional Arid1b knockout mice (ventral vs. cortical progenitors), BrdU/Ki67 proliferation assays, apoptosis assays, β-catenin immunostaining/fractionation, behavioral testing Scientific Reports Medium 33594090
2020 Arid1b haploinsufficiency in PV interneurons causes social and emotional impairments, while deletion in SST interneurons causes stereotypies and learning/memory deficits, demonstrating interneuron-subtype-specific contributions to distinct behavioral phenotypes. Conditional Arid1b heterozygous knockout mice in PV-Cre or SST-Cre backgrounds, comprehensive behavioral testing Scientific Reports Medium 32398858
2021 TNPO1 (importin β) mediates nuclear import of ARID1B; TNPO1 knockdown prevents ARID1B nuclear localization, reduces H3K4me1 and H3K27ac at AP-1 target loci, and inactivates PI3K/AKT signaling. ARID1A-deficient gynecologic cancer cells are selectively sensitive to TNPO1 perturbation. siRNA knockdown of TNPO1, immunofluorescence/fractionation for ARID1B localization, ChIP for histone marks, ATAC-seq for chromatin accessibility, in vitro and in vivo proliferation assays Cancer Letters Medium 34044070
2021 ARID1B-BAF (cBAF with ARID1B) is the lineage-specific BAF configuration active during neuroectoderm specification; at the onset of differentiation, cells switch from ARID1A-BAF to ARID1B-BAF, which attenuates NANOG/SOX2 enhancers and triggers pluripotency exit. Coffin-Siris patient iPSCs fail to perform this ARID1A→ARID1B subunit switch, maintaining persistent NANOG/SOX2 activity that impairs neural crest cell formation. Patient-derived iPSCs differentiated to cranial neural crest cells, ChIP-seq for ARID1A/ARID1B occupancy, ATAC-seq, RNA-seq, NANOG/SOX2 immunostaining Nature Communications High 34753942
2021 Cytoplasmic mislocalization of ARID1B (caused by NLS mutations) confers a gain-of-oncogenic function: cytoplasmic ARID1B binds c-RAF (RAF1) and PPP1CA, stimulating RAF-ERK signaling and β-catenin transcriptional activity, promoting tumor growth in cell lines and mouse xenografts. NLS mutant construction, subcellular fractionation, fluorescence microscopy, Co-IP of cytoplasmic ARID1B with RAF1/PPP1CA, mouse xenograft assays, IHC on pancreatic tumor tissue microarray Journal of Cell Science High 33443092
2021 ARID1B is a molecular suppressor of erythropoiesis under hypoxia: ARID1B knockdown increases GATA1 levels ~3-fold and RBC levels ~100-fold under hypoxia, lowers p53, decreases apoptosis, and alters chromatin accessibility at GATA1/p53 target genes (shown by ATAC-seq), establishing ARID1B as an epigenetic regulator of erythroid gene programs. iPSC-derived erythroid differentiation model, ARID1B knockdown, ATAC-seq, RT-PCR, flow cytometry for erythroid markers Experimental & Molecular Medicine Medium 35672450
2022 ARID1B of the cBAF complex directly interacts with the long non-coding RNA NEAT1 of paraspeckles; this interaction mediates paraspeckle-SWI/SNF binding. ARID1B depletion reduces binding of paraspeckle proteins to chromatin modifiers, transcription factors, and histones, and loss of ARID1B or NEAT1 co-regulates a common set of transcribed and alternatively spliced genes. Co-immunoprecipitation of ARID1B with NEAT1, RNA pulldown, mass spectrometry, ChIP, RNA-seq and splicing analysis after ARID1B or NEAT1 depletion EMBO Reports High 36354291
2022 The ARID domain of ARID1B (BAF250b) contains a short β-sheet absent in its paralog ARID1A's ARID domain; NMR chemical shift perturbations identified the DNA-binding interface, and ITC showed moderate affinity binding to DNA with distinct thermodynamic signatures compared to ARID1A, suggesting structural differences influence DNA-binding specificity. NMR backbone assignment and chemical shift perturbation, ITC, crystal structure comparison, HADDOCK computational docking Protein Science High 35481652
2022 Early postnatal serotonin modulation with fluoxetine in Arid1b+/- mice prevents adult-stage excitatory synaptic deficits and autistic-like behaviors through transcriptomic changes including normalization of HDAC4/MEF2A-regulated genes (SynGAP1, Arc) and upregulation of FMRP targets. Arid1b+/- mice, chronic postnatal fluoxetine treatment, electrophysiology, behavioral testing, RNA-seq transcriptome analysis Nature Communications Medium 36030255
2023 ARID1B binds the mTOR promoter and negatively regulates mTOR transcription; methionine reduces ARID1B binding at this promoter (via PI3K-dependent reduction of ARID1B protein through proteasomal degradation), thereby relieving ARID1B-mediated repression of mTOR and stimulating milk fat/protein synthesis and proliferation in mammary epithelial cells. ARID1B knockdown/activation in HC11 cells, mTOR promoter ChIP/binding assays, cycloheximide/MG132/chloroquine inhibitor experiments, proliferation and lipid synthesis assays Journal of Nutritional Biochemistry Medium 36681308
2024 Protein destabilization is the primary mechanism by which pathogenic missense mutations in ARID1B cause Coffin-Siris syndrome, as demonstrated by saturated mutagenesis screens; non-truncating mutations in the EHD2 (BRG1-interacting) and ARID domains cause protein misfolding and formation of cytoplasmic aggresomes (surrounded by vimentin, co-localizing with MTOC), with nuclear aggregates also forming for ARID domain variants, while protein levels are maintained. Saturated mutagenesis screen, overexpression assays with fluorescent reporters, western blot quantification, immunofluorescence for aggresome markers (vimentin, MTOC), genome-wide transcriptome and methylation analysis Nature Structural & Molecular Biology / Human Genetics High 38347147 39028335
2024 ARID1B controls chromatin accessibility at TCF-like, NFI-like, and ARID-like transcription factor binding regions in SATB2+ callosal projection neurons; ARID1B+/- neural organoids show impaired SATB2+ neuron maturation and reduced chromatin accessibility at these loci, causing transcriptional dysregulation of corpus callosum development genes and impaired long-range axonal projections. ARID1B+/- neural organoids, ATAC-seq, RNA-seq, in vitro corpus callosum tract model for axonal projection, SATB2 immunostaining Cell Stem Cell High 38718796
2024 ARID1B loss in the hematopoietic compartment impairs myeloid reconstitution in transplantation experiments and double ARID1A/ARID1B knockout causes acute bone marrow failure. ATAC-seq revealed that >80% of chromatin loci regulated by ARID1B are distinct from those regulated by ARID1A, with ARID1B controlling expression of genes crucial for myelopoiesis. Hematopoietic-specific conditional Arid1b knockout mice, bone marrow transplantation, ATAC-seq, RNA-seq Blood Advances High 37611161
2024 ARID1B maintains mesenchymal stem cell quiescence by suppressing BCL11B expression through direct binding to BCL11B's third intron; loss of ARID1B upregulates BCL11B, which in turn activates non-canonical Activin signaling (via INHBA/activin A and p-ERK), driving MSC proliferation. Reduction of BCL11B or inhibition of non-canonical Activin signaling restores MSC quiescence in Arid1b mutant mice. scRNA-seq, scATAC-seq of GLI1+ MSC lineage in Arid1b conditional KO mice, ChIP for ARID1B binding at Bcl11b intron, rescue experiments (Bcl11b reduction, Activin pathway inhibition), phospho-ERK immunostaining Nature Communications High 38816354
2024 ARID1B nuclear import is mediated by a KPNA2-KPNB1-RANBP2 cascade; specific residues R1518, H1519, and D1522 on ARID1B mediate interaction with KPNA2/KPNB1. Mutation of these residues attenuates the ARID1B-KPNA2/KPNB1 interaction and prevents ARID1B recruitment to the nuclear pore complex. Pharmacological inhibition of KPNB1 suppresses ARID1B nuclear translocation. Protein complex purification, mass spectrometry, site-directed mutagenesis of NLS residues, Co-IP, pharmacological KPNB1 inhibition, TNBC mouse xenograft models Advanced Science High 40671262
2024 ARID1B knockdown in lung cancer cell lines impairs DNA damage repair, alters chromatin accessibility, and activates the cGAS-STING pathway, mechanistically linking ARID1B loss to innate immune signaling. siRNA knockdown, DNA damage assays (γH2AX foci, RAD51 foci), ATAC-seq for chromatin accessibility, cGAS-STING pathway marker analysis Journal of Cancer Medium 38577613
2024 mRNA display identified peptidic ligands that bind ARID1B with nanomolar affinity and high selectivity over ARID1A, engaging two distinct binding pockets; one pocket involves an ARID1B-exclusive cysteine residue that enables covalent targeting, providing first evidence of ARID1B ligandability. mRNA display peptide selection, biochemical binding assays, biophysical characterization (SPR/ITC), chemical biology pulldowns ACS Chemical Biology High 38655884

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2012 Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. Nature genetics 341 23202128
2014 ARID1B is a specific vulnerability in ARID1A-mutant cancers. Nature medicine 337 24562383
2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nature genetics 287 22426309
2014 SWI/SNF factors required for cellular resistance to DNA damage include ARID1A and ARID1B and show interdependent protein stability. Cancer research 156 24788099
2017 Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior. Nature neuroscience 142 29184203
2008 BAF250B-associated SWI/SNF chromatin-remodeling complex is required to maintain undifferentiated mouse embryonic stem cells. Stem cells (Dayton, Ohio) 141 18323406
2011 Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clinical genetics 120 21801163
2018 The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 104 30349098
2014 Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer. International journal of cancer 101 24382590
2016 Concurrent ARID1A and ARID1B inactivation in endometrial and ovarian dedifferentiated carcinomas. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 92 27562491
2017 Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. eLife 90 28695822
2015 Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling. American journal of human genetics 71 26340334
2016 Essential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal Neurons. The Journal of neuroscience : the official journal of the Society for Neuroscience 63 26937011
2011 Dynamics of expression of ARID1A and ARID1B subunits in mouse embryos and in cells during the cell cycle. Cell and tissue research 62 21647563
2021 ARID1A, ARID1B, and ARID2 Mutations Serve as Potential Biomarkers for Immune Checkpoint Blockade in Patients With Non-Small Cell Lung Cancer. Frontiers in immunology 57 34512623
1999 Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. Journal of medical genetics 56 9950359
2016 Insertional Mutagenesis Identifies a STAT3/Arid1b/β-catenin Pathway Driving Neurofibroma Initiation. Cell reports 55 26904939
2016 Frequency and outcome of pediatric acute lymphoblastic leukemia with ZNF384 gene rearrangements including a novel translocation resulting in an ARID1B/ZNF384 gene fusion. Pediatric blood & cancer 54 27392123
2013 ARID1B, a member of the human SWI/SNF chromatin remodeling complex, exhibits tumour-suppressor activities in pancreatic cancer cell lines. British journal of cancer 52 23660946
2020 Dual ARID1A/ARID1B loss leads to rapid carcinogenesis and disruptive redistribution of BAF complexes. Nature cancer 49 34386776
2005 FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. The Journal of craniofacial surgery 43 15915095
2021 Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders. Molecular psychiatry 38 33686214
2002 Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein. The Biochemical journal 36 11988099
1997 Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. Journal of medical genetics 35 9279764
2018 Serum miRNA expression profiling reveals miR-486-3p may play a significant role in the development of autism by targeting ARID1B. Neuroreport 34 30260819
2015 ARID1B-mediated disorders: Mutations and possible mechanisms. Intractable & rare diseases research 34 25674384
2017 Melanotic Translocation Renal Cell Carcinoma With a Novel ARID1B-TFE3 Gene Fusion. The American journal of surgical pathology 33 28877054
2019 Targeting ARID1A-mutant colorectal cancer: depletion of ARID1B increases radiosensitivity and modulates DNA damage response. Scientific reports 30 31796878
2013 Jumonji/Arid1b (Jarid1b) protein modulates human esophageal cancer cell growth. Molecular and clinical oncology 30 24649241
2015 Loss of ARID1A, ARID1B, and ARID2 Expression During Progression of Gastric Cancer. Anticancer research 29 26637902
2024 ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum. Cell stem cell 28 38718796
2021 The Evolutionary Conserved SWI/SNF Subunits ARID1A and ARID1B Are Key Modulators of Pluripotency and Cell-Fate Determination. Frontiers in cell and developmental biology 26 33748136
2021 Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders. Nature communications 26 34753942
2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. BMC genomics 26 26376624
2021 Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development. Molecular autism 25 33757588
2022 Paraspeckles interact with SWI/SNF subunit ARID1B to regulate transcription and splicing. EMBO reports 24 36354291
2020 Arid1b haploinsufficiency in parvalbumin- or somatostatin-expressing interneurons leads to distinct ASD-like and ID-like behavior. Scientific reports 24 32398858
2018 ARID1B as a Potential Therapeutic Target for ARID1A-Mutant Ovarian Clear Cell Carcinoma. International journal of molecular sciences 23 29890703
2018 The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior. Progress in neuro-psychopharmacology & biological psychiatry 23 30149092
2020 Autism-associated miR-873 regulates ARID1B, SHANK3 and NRXN2 involved in neurodevelopment. Translational psychiatry 22 33262327
2020 De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling. Human mutation 21 31981384
2017 ARID1B alterations identify aggressive tumors in neuroblastoma. Oncotarget 21 28521285
2020 BRG1, INI1, and ARID1B Deficiency in Endometrial Carcinoma: A Clinicopathologic and Immunohistochemical Analysis of a Large Series From a Single Institution. The American journal of surgical pathology 20 32910019
2001 Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. American journal of medical genetics 20 11424131
2015 Clinicopathological significance of ARID1B in breast invasive ductal carcinoma. Histopathology 19 25817822
2014 Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. European journal of human genetics : EJHG 19 24569609
2021 ARID1B/SUB1-activated lncRNA HOXA-AS2 drives the malignant behaviour of hepatoblastoma through regulation of HOXA3. Journal of cellular and molecular medicine 18 33683826
2017 Expression of ARID1B Is Associated With Poor Outcomes and Predicts the Benefit from Adjuvant Chemotherapy in Bladder Urothelial Carcinoma. Journal of Cancer 18 29151933
2016 Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene. American journal of medical genetics. Part A 18 26754677
2014 Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. Orphanet journal of rare diseases 18 24674232
2021 Differential roles of ARID1B in excitatory and inhibitory neural progenitors in the developing cortex. Scientific reports 17 33594090
2016 Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation. American journal of medical genetics. Part A 17 27511161
2016 A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. American journal of medical genetics. Part A 16 27570168
2021 Loss of ARID1B and SMARCB1 expression are specific for the diagnosis of dedifferentiated/undifferentiated carcinoma in tumours of the upper gynaecological tract and cervix. Histopathology 15 33432679
2015 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. American journal of medical genetics. Part A 14 26395437
2024 ARID1B Deficiency Leads to Impaired DNA Damage Response and Activated cGAS-STING Pathway in Non-Small Cell Lung Cancer. Journal of Cancer 13 38577613
2022 ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge's disease. Experimental & molecular medicine 13 35672450
2014 Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay. American journal of medical genetics. Part A 13 25250687
2022 Early postnatal serotonin modulation prevents adult-stage deficits in Arid1b-deficient mice through synaptic transcriptional reprogramming. Nature communications 12 36030255
2016 Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. Intractable & rare diseases research 12 27672547
2021 TNPO1-mediated nuclear import of ARID1B promotes tumor growth in ARID1A-deficient gynecologic cancer. Cancer letters 11 34044070
2021 A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria. Genes 11 34440449
2021 Aberrant cytoplasmic localization of ARID1B activates ERK signaling and promotes oncogenesis. Journal of cell science 10 33443092
2024 Mutations of ARID1B, PIK3C2B, KMT2B, and FAT1 genes influence clinical outcome in newly diagnosed myeloma. Cancer genetics 9 39536425
2023 ARID1B blocks methionine-stimulated mTOR activation to inhibit milk fat and protein synthesis in and proliferation of mouse mammary epithelial cells. The Journal of nutritional biochemistry 9 36681308
2019 De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome. Molecular genetics & genomic medicine 9 31628733
2006 Sudden infant death in a patient with FGFR3 P250R mutation. American journal of medical genetics. Part A 9 17103449
2024 Protein destabilization underlies pathogenic missense mutations in ARID1B. Nature structural & molecular biology 8 38347147
2019 Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion. European journal of medical genetics 7 31421289
2017 A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings. American journal of medical genetics. Part A 7 28691782
2024 ARID1B maintains mesenchymal stem cell quiescence via inhibition of BCL11B-mediated non-canonical Activin signaling. Nature communications 6 38816354
2023 Pleiotropic effects of a high confidence Autism Spectrum Disorder gene, arid1b, on zebrafish sleep. Neurobiology of sleep and circadian rhythms 6 37287661
2022 Structure and DNA binding analysis of AT-rich interaction domain present in human BAF-B specific subunit BAF250b. Protein science : a publication of the Protein Society 6 35481652
2022 A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. Human genome variation 6 35879281
2021 Downregulation of ARID1B, a tumor suppressor in the WNT subgroup medulloblastoma, activates multiple oncogenic signaling pathways. Human molecular genetics 6 33949667
2023 Acute myeloid leukemia with NUP98::RARG resembling acute promyelocytic leukemia accompanying ARID1B gene mutation. Hematology (Amsterdam, Netherlands) 5 37387408
2017 A potentially functional variant of ARID1B interacts with physical activity in association with risk of hepatocellular carcinoma. Oncotarget 5 28415691
2024 The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation. Human genetics 4 39028335
2024 Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy. Genetics in medicine : official journal of the American College of Medical Genetics 4 39355979
2023 Dissecting the role of SWI/SNF component ARID1B in steady-state hematopoiesis. Blood advances 4 37611161
2023 Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant. American journal of medical genetics. Part C, Seminars in medical genetics 4 37654076
2022 Aberrantly hypermethylated ARID1B is a novel biomarker and potential therapeutic target of colon adenocarcinoma. Frontiers in genetics 4 36313455
2021 Epilepsy features in ARID1B-related Coffin-Siris syndrome. Epileptic disorders : international epilepsy journal with videotape 4 34730517
2020 First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation. Annals of clinical and laboratory science 4 32161024
2020 Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene. Journal of the neurological sciences 4 32339967
2020 Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B. Congenital anomalies 4 32618029
2023 Dedifferentiated Ovarian Carcinoma with ARID1A and ARID1B Mutations: A Clinicopathological Report and Literature Review. International journal of surgical pathology 3 36843546
2023 Establishment and validation of preclinical models of SMARCA4-inactivated and ARID1A/ARID1B co-inactivated dedifferentiated endometrial carcinoma. Gynecologic oncology 3 37556934
2022 Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients. Neurology India 3 36352633
2021 Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1. Experimental and therapeutic medicine 3 33936271
2020 CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome. Stem cell research 3 32682288
2024 mRNA Display Identifies Potent, Paralog-Selective Peptidic Ligands for ARID1B. ACS chemical biology 2 38655884
2024 De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia. BMC medical genomics 2 38790056
2024 The SWI/SNF subunit ARID1B is important for regenerative ability of hematopoietic stem cells in normal hematopoiesis. PloS one 2 39446840
2023 ARID1B Immunohistochemistry Is an Important Test for the Diagnosis of Dedifferentiated and Undifferentiated Gynecologic Malignancies. Cancers 2 37686505
2022 Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome. Molecular syndromology 2 36588753
2021 The molecular mechanism of the transcriptional activator SWI regulating gene ARID1B affecting swallowing dysfunction after stroke in rats. Die Pharmazie 2 34620277
2025 Disruption of ARID1B Recruitment to the Nuclear Pore Complex as a New Anticancer Therapeutic Strategy. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 1 40671262
2022 [Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 35315036
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