Affinage

ARID1B

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

Length
2319 aa
Mass
243.9 kDa
Annotated
2026-06-09
100 papers in source corpus 31 papers cited in narrative 31 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 9/9 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ARID1B is the DNA-binding scaffolding subunit of cBAF-type SWI/SNF chromatin remodeling complexes, where it is mutually exclusive with its paralog ARID1A and controls chromatin accessibility programs governing proliferation, lineage transitions, and neuronal development (PMID:11988099, PMID:21647563, PMID:34753942). It binds the ATPase BRG1/SMARCA4 through its EHD2 domain and engages DNA through its ARID domain, which adopts a helix-turn-helix fold with a paralog-distinct β-sheet and binds DNA with moderate affinity (PMID:11988099, PMID:35481652). Within the cell cycle, ARID1B is expressed throughout all phases and is required for ES cell self-renewal, G1-to-S progression, and timely cell cycle re-entry, such that its loss delays proliferation (PMID:18323406, PMID:21647563, PMID:24674232). ARID1B-BAF represses Wnt/β-catenin signaling by associating with β-catenin via its BRG1-binding domain, and this repression is central to its control of neurite outgrowth, chondro-/osteogenic bone growth, and neural progenitor behavior (PMID:26340334, PMID:31981384, PMID:33594090). During differentiation, cells switch from ARID1A-BAF to ARID1B-BAF, attenuating NANOG/SOX2 enhancers to drive exit from pluripotency, and ARID1B shapes accessibility at enhancers controlling cortical interneuron, callosal projection neuron, and dendritic maturation programs—including H3K9 acetylation of the Pvalb promoter and c-Fos/Arc-dependent dendritic arborization (PMID:26937011, PMID:29184203, PMID:34753942, PMID:38718796). ARID1B also represses mTOR transcription by direct promoter binding and maintains GLI1+ mesenchymal stem cell quiescence by directly repressing Bcl11b to suppress non-canonical Activin/p-ERK signaling (PMID:36681308, PMID:38816354). ARID1B and ARID1A are interdependent for complex stability and NHEJ repair, and combined loss disrupts both cBAF and pBAF, making ARID1B a selective vulnerability in ARID1A-mutant cancers (PMID:24562383, PMID:24788099, PMID:34386776). ARID1B nuclear import is driven by the KPNA2-KPNB1-RANBP2 and TNPO1 import machineries; NLS disruption mislocalizes ARID1B to the cytoplasm, where it binds c-RAF and PPP1CA to drive oncogenic RAF-ERK signaling (PMID:34044070, PMID:33443092, PMID:40671262). Pathogenic missense variants causing Coffin-Siris syndrome act predominantly through protein destabilization and, for EHD2/ARID-domain variants, misfolding into cytoplasmic aggresomes (PMID:38347147, PMID:39028335).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2002 Medium

    Established ARID1B's basic architecture as a SWI/SNF subunit, defining how it physically anchors to the remodeling complex and proposing its DNA-contacting module.

    Evidence Domain mapping and co-IP from brain extracts localizing BRG1 binding to the EHD2 domain and identifying the ARID domain

    PMID:11988099

    Open questions at the time
    • DNA-binding activity of the ARID domain not demonstrated biochemically here
    • no structural detail of EHD2-BRG1 interface
  2. 2008 High

    Demonstrated that ARID1B-containing SWI/SNF is functionally required for stem cell self-renewal and cell cycle progression, moving beyond a structural role to cellular function.

    Evidence Biallelic inactivation in mouse ES cells with proliferation, self-renewal, and gene expression readouts

    PMID:18323406

    Open questions at the time
    • direct chromatin targets driving the phenotype not identified
    • mechanism distinguishing ARID1B from ARID1A activity not addressed
  3. 2011 Medium

    Resolved how ARID1A and ARID1B are deployed differentially across the cell cycle, providing a basis for context-specific BAF assembly during proliferation versus arrest.

    Evidence Immunofluorescence and western blotting across synchronized cell cycle phases

    PMID:21647563

    Open questions at the time
    • functional consequence of differential incorporation not tested
    • mechanism controlling mitotic ARID1A elimination unknown
  4. 2014 High

    Identified ARID1B as a synthetic-lethal vulnerability in ARID1A-mutant cancers and showed the paralogs are interdependent for complex stability and DNA double-strand break repair.

    Evidence shRNA/siRNA loss-of-function screens, complex stability assays, KU70/KU80 focus and clonogenic survival assays

    PMID:24562383 PMID:24788099

    Open questions at the time
    • how residual complexes retain or lose specific functions not resolved
    • direct chromatin remodeling step at DSBs not biochemically reconstituted
  5. 2014 Medium

    Connected ARID1B dosage to disease-relevant cellular physiology by showing haploinsufficiency delays cell cycle re-entry in patient cells.

    Evidence BrdU/flow cytometry cell cycle analysis in patient-derived and knockdown fibroblasts

    PMID:24674232

    Open questions at the time
    • molecular targets linking ARID1B loss to delayed re-entry not defined
    • single assay type
  6. 2015 High

    Defined a key signaling output of ARID1B-BAF: repression of Wnt/β-catenin through BRG1- and β-catenin-dependent mechanisms, with relevance to neurite outgrowth.

    Evidence Wnt reporter assays, endogenous/exogenous co-IP, BRG1-binding-domain deletion mutants, neurite outgrowth assays; cell cycle knockdown in breast cancer cells

    PMID:25817822 PMID:26340334

    Open questions at the time
    • genomic Wnt target loci not mapped
    • whether repression occurs at chromatin or via β-catenin sequestration not distinguished
  7. 2016 High

    Placed ARID1B within a defined oncogenic pathway and a neuronal differentiation program, showing it acts downstream of STAT3/β-catenin and is required for proper dendritic and synaptic development.

    Evidence Insertional mutagenesis screen with conditional mouse models and ChIP (neurofibroma); in utero electroporation knockdown with morphology, electrophysiology, and c-Fos/Arc rescue (neurons)

    PMID:26904939 PMID:26937011

    Open questions at the time
    • direct ARID1B chromatin targets in neurons not fully enumerated
    • how STAT3-driven repression of Arid1b is sustained not detailed
  8. 2017 High

    Provided in vivo mechanistic links between ARID1B haploinsufficiency and neurodevelopmental and growth phenotypes, including a specific histone-mark and promoter target.

    Evidence Arid1b heterozygous mice with cell counting, BrdU, H3K9ac ChIP at the Pvalb promoter, electrophysiology, and IGF1/GH measurement with GH rescue

    PMID:28695822 PMID:29184203

    Open questions at the time
    • whether GABAergic and growth phenotypes share a common molecular target unknown
    • how ARID1B loss reduces global H3K9ac mechanistically not resolved
  9. 2020 High

    Revealed that ARID1B scaffolding loss disrupts both cBAF and pBAF and that paralog co-loss drives aggressive de-differentiated cancers, refining the synthetic-lethal model.

    Evidence Double-knockout mouse models, biochemical fractionation of SWI/SNF subcomplexes, scaffolding-domain mutations, senescence add-back assays; cell-type-specific interneuron conditional KOs with behavior

    PMID:32398858 PMID:34386776

    Open questions at the time
    • mechanism by which residual cBAF subcomplexes poison pBAF not fully defined
    • which BAF target genes mediate senescence not pinpointed
  10. 2021 High

    Established ARID1B-BAF as a lineage-defining configuration that drives pluripotency exit and demonstrated its requirement for region-specific neurodevelopmental programs via β-catenin and chromatin accessibility.

    Evidence Patient iPSC multi-omics (ATAC-seq, ChIP-seq, RNA-seq, CUT&RUN) during cranial neural crest formation; conditional KO mouse models with β-catenin IF and behavior

    PMID:33594090 PMID:34753942

    Open questions at the time
    • trigger initiating the ARID1A-to-ARID1B-BAF switch unknown
    • direct enhancer targets shared across lineages not unified
  11. 2021 Medium

    Expanded the regulatory and localization repertoire of ARID1B—nuclear import partners, paraspeckle/lncRNA association, erythropoietic suppression, and a cytoplasmic oncogenic gain-of-function.

    Evidence TNPO1 knockdown/co-IP with histone-mark ChIP and PI3K/AKT readouts; NEAT1 RIP and splicing RNA-seq; iPSC erythropoiesis with GATA1/p53 and ATAC-seq; NLS-mutant localization with c-RAF/PPP1CA co-IP and xenografts; cGAS-STING activation on knockdown

    PMID:33443092 PMID:34044070 PMID:35672450 PMID:36354291 PMID:38577613

    Open questions at the time
    • how cytoplasmic ARID1B engages RAF-ERK independent of BAF not structurally defined
    • relationship between TNPO1 and KPNA2/KPNB1 import routes not reconciled
    • cGAS-STING link is low-confidence and lacks mechanistic depth
  12. 2022 High

    Provided the structural and biophysical basis for ARID1B DNA recognition and established paralog-distinguishing features of its ARID domain.

    Evidence NMR backbone assignment, chemical shift perturbation mapping, HADDOCK modeling, and ITC DNA-binding measurements; postnatal fluoxetine rescue of synaptic deficits with transcriptomic mechanism

    PMID:35481652 PMID:36030255

    Open questions at the time
    • sequence specificity of ARID-domain DNA binding not defined
    • structure of full ARID1B or its EHD2-BRG1 interface unsolved
  13. 2023 Medium

    Defined transcriptional and metabolic control roles—direct mTOR promoter repression with nutrient-regulated degradation—and mapped the import cascade and ARID1B-ARID1A regulatory antagonism.

    Evidence ChIP at the mTOR promoter, proteasome-inhibitor and cycloheximide-chase experiments; mass-spectrometry complex purification with KPNA2/KPNB1/RANBP2 co-IP, mutagenesis, and KPNB1 inhibition

    PMID:36681308 PMID:40671262

    Open questions at the time
    • whether mTOR promoter repression requires BAF remodeling not shown
    • physiological signals routing ARID1B to nuclear pores versus cytoplasm not integrated
  14. 2024 High

    Resolved how ARID1B controls adult stem cell quiescence and neuronal connectivity at the level of direct target genes and accessibility, while establishing that Coffin-Siris missense variants act through destabilization or aggregation.

    Evidence scRNA/scATAC-seq with ARID1B ChIP at the Bcl11b intron and genetic rescue (MSC); ARID1B+/- organoid ATAC-seq/RNA-seq with axonogenesis assays; deep mutational scanning; aggresome imaging with structural prediction; mRNA-display ligand discovery

    PMID:38347147 PMID:38655884 PMID:38718796 PMID:38816354 PMID:39028335

    Open questions at the time
    • whether destabilizing and aggregating variants share downstream consequences not unified
    • selective peptidic ligands not yet shown to modulate ARID1B function in cells

Open questions

Synthesis pass · forward-looking unresolved questions
  • How a single ARID1B-BAF complex is directed to such diverse, context-specific gene programs—and how cytoplasmic gain-of-function, nuclear import routing, and variant-induced destabilization are mechanistically connected—remains unresolved.
  • no full-length structure of ARID1B within assembled BAF
  • rules governing ARID1A-versus-ARID1B-BAF lineage switching unknown
  • no unified model linking cytoplasmic, import, and aggregation phenotypes

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0140110 transcription regulator activity 3 GO:0003677 DNA binding 2 GO:0003723 RNA binding 1 GO:0140657 ATP-dependent activity 1
Localization
GO:0005634 nucleus 3 GO:0000228 nuclear chromosome 2 GO:0005829 cytosol 2
Pathway
R-HSA-4839726 Chromatin organization 5 R-HSA-1266738 Developmental Biology 4 R-HSA-1640170 Cell Cycle 4 R-HSA-162582 Signal Transduction 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-9609507 Protein localization 2 R-HSA-73894 DNA Repair 1
Partners
ARID1ACTNNB1KPNA2KPNB1RAF1RANBP2SMARCA4TNPO1
Complex memberships
cBAF (SWI/SNF)pBAF (SWI/SNF)

Evidence

Reading pass · 31 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2002 ARID1B (hELD/OSA1) was cloned as a human homolog of Drosophila Eld/Osa and shown to be a component of endogenous SWI/SNF complexes. The EHD2 domain of ARID1B mediates direct binding to BRG1 (SMARCA4), the ATPase subunit of SWI/SNF. EHD1 and EHD2 domains can also interact with each other. An ARID domain was identified as a putative DNA-binding domain. Domain mapping, co-immunoprecipitation from mouse brain extracts, antibody against EHD2 The Biochemical journal Medium 11988099
2008 BAF250B (ARID1B)-containing SWI/SNF complex is required for mouse embryonic stem cell self-renewal and normal cell cycle progression. Biallelic inactivation of BAF250B in ES cells reduced proliferation, impaired self-renewal, and altered expression of pluripotency and differentiation genes. Biallelic gene inactivation in mouse ES cells, proliferation assays, gene expression analysis, cell cycle analysis Stem cells (Dayton, Ohio) High 18323406
2011 ARID1A and ARID1B are mutually exclusive subunits of the BAF complex with different cell-cycle expression kinetics: ARID1A accumulates in G0 and is eliminated during mitosis, whereas ARID1B is expressed at comparable levels throughout all cell cycle phases including mitosis, suggesting differential incorporation into SWI/SNF during proliferation versus arrest. Immunofluorescence, western blotting across synchronized cell cycle phases, expression analysis in mouse embryos Cell and tissue research Medium 21647563
2014 ARID1B is a specific vulnerability in ARID1A-mutant cancers. ARID1B is the paralog that is mutually exclusive with ARID1A in SWI/SNF (cBAF) complexes. Loss of ARID1B in an ARID1A-deficient background destabilizes the SWI/SNF complex and impairs proliferation in cancer cells and primary cells. Broad siRNA/shRNA screening, genetic loss-of-function in cancer cell lines, protein complex stability assays (co-IP/western blot), proliferation assays Nature medicine High 24562383
2014 Both ARID1A and ARID1B are required for efficient non-homologous end joining (NHEJ) of DNA double-strand breaks. Suppression of either protein reduces KU70/KU80 accumulation at DSBs and sensitizes cells to ionizing radiation, cisplatin, and UV. Both ARID1 proteins facilitate recruitment of the SWI/SNF ATPase subunit to DSBs. ARID1A and ARID1B show interdependent protein stability within the complex. siRNA knockdown, live-cell imaging of DSB repair, KU70/KU80 focus assays, clonogenic survival, co-immunoprecipitation Cancer research High 24788099
2014 ARID1B haploinsufficiency in patient-derived fibroblasts causes delayed cell cycle re-entry after serum starvation, with reduced cell numbers in S phase, providing direct evidence that altered cell cycle dynamics underlie ARID1B-associated disorders. Cell cycle analysis (BrdU/flow cytometry) in patient-derived and ARID1B knockdown fibroblasts after serum starvation Orphanet journal of rare diseases Medium 24674232
2015 ARID1B is a repressor of Wnt/β-catenin signaling. Knockdown of ARID1B activates Wnt/β-catenin target genes and transcriptional reporters in a β-catenin-dependent manner. Endogenous and exogenous ARID1B associate with β-catenin. ARID1B represses Wnt/β-catenin-mediated transcription through the BAF core subunit BRG1. Mutations in ARID1B that delete its BRG1-binding domain compromise association with β-catenin and fail to suppress Wnt signaling. ARID1B knockdown in mouse neuroblastoma cells promotes neurite outgrowth through β-catenin. Transcriptome analysis, Wnt reporter assays, siRNA knockdown, co-immunoprecipitation (endogenous and exogenous), domain-deletion mutagenesis, neurite outgrowth assay American journal of human genetics High 26340334
2015 ARID1B knockdown in breast cancer cells (MDA-MB-231) causes delay in G1-to-S phase cell cycle transition and decreased cell proliferation, establishing a direct role for ARID1B in cell cycle progression. siRNA knockdown, flow cytometry cell cycle analysis, proliferation assay Histopathology Low 25817822
2016 P-STAT3 represses Arid1b expression through BRG1-dependent histone modification, leading to increased β-catenin activity in Schwann cell progenitors. Arid1b acts downstream of STAT3 as part of an Nf1-Stat3-Arid1b/β-catenin neurofibroma initiation pathway. Knockdown of Arid1b rescues neurofibroma formation in Stat3-deficient SCPs after in vivo transplantation. Insertional mutagenesis screen, mouse genetic models (conditional knockouts), ChIP for histone marks, in vivo transplantation, genetic epistasis Cell reports High 26904939
2016 ARID1B is required for dendritic arborization and spine morphology of developing pyramidal neurons. ARID1B knockdown suppresses dendritic arborization of cortical and hippocampal pyramidal neurons, causes aberrant dendritic spines and impaired synaptic transmission, and reduces expression of c-Fos and Arc; overexpression of c-Fos and Arc rescues the dendritic differentiation defects. In utero electroporation-mediated knockdown, confocal imaging of dendritic morphology, electrophysiology, gene expression analysis, rescue experiments with c-Fos/Arc overexpression The Journal of neuroscience High 26937011
2017 Arid1b haploinsufficiency in mice reduces cortical GABAergic interneuron numbers and proliferation of interneuron progenitors in the ganglionic eminence, leads to E/I synaptic imbalance in the cerebral cortex, and suppresses H3K9 acetylation globally and specifically at the Pvalb promoter, resulting in decreased parvalbumin transcription. Arid1b knockout mouse model (heterozygotes), cell counting, BrdU proliferation assay, ChIP for H3K9ac, qRT-PCR, synaptic electrophysiology Nature neuroscience High 29184203
2017 Arid1b haploinsufficiency in mice causes IGF1 deficiency with inadequate GHRH/GH compensation, leading to growth retardation and muscle weakness. GH supplementation corrects growth retardation but not behavioral abnormalities. Arid1b haploinsufficiency alters expression of SWI/SNF-regulated genes implicated in neuropsychiatric disorders. Arid1b heterozygous mouse model, serum IGF1/GH measurements, GH supplementation rescue, gene expression analysis eLife Medium 28695822
2020 Dual loss of ARID1A and ARID1B causes aggressive carcinogenesis through de-differentiation and hyperproliferation in liver and skin. Residual cBAF subcomplexes from loss of ARID1 scaffolding unexpectedly disrupt polybromo-containing pBAF function. Mutations in conserved scaffolding domains of ARID1 proteins cause complex disassembly. In double-mutant endometrial cancer cells, add-back of either ARID1A or ARID1B induced senescence. Double-knockout mouse models (liver, skin), endometrial cancer cell lines, biochemical fractionation of SWI/SNF subcomplexes, domain mutation analysis, senescence assays Nature cancer High 34386776
2020 Arid1b haploinsufficiency in parvalbumin (PV) interneurons causes social and emotional impairments, while deletion in somatostatin (SST) interneurons causes stereotypies and learning/memory dysfunction, demonstrating interneuron subtype-specific contributions to ARID1B-associated behavioral phenotypes. Cell-type-specific conditional Arid1b knockout mice (PV-Cre and SST-Cre), behavioral testing Scientific reports Medium 32398858
2020 Arid1b deficiency in zebrafish embryos reduces body length and perturbs expression of chondrogenic and osteogenic genes (sox9a, col2a1a, runx2b, col10a1). Knockout of Arid1b in chondrogenic ATDC5 cells inhibits chondrocyte proliferation and differentiation. Wnt/β-catenin signaling is perturbed in Arid1b-depleted zebrafish and Arid1b-KO ATDC5 cells, linking ARID1B to bone growth via Wnt/β-catenin regulation. Zebrafish arid1b morpholino knockdown, Arid1b KO in ATDC5 cells, qRT-PCR for osteogenic genes, Wnt reporter assays, proliferation/differentiation assays Human mutation Medium 31981384
2021 ARID1B is present only during the neuroectoderm specification stage of cranial neural crest cell formation and is part of a lineage-specific ARID1B-BAF configuration. At the onset of differentiation, cells transition from ARID1A-BAF to ARID1B-BAF, which attenuates NANOG and SOX2 network enhancers and genes to drive exit from pluripotency. In ARID1B+/- patient iPSCs, this ARID1A-to-ARID1B-BAF switch fails, maintaining NANOG/SOX2 activity and impairing neural crest formation. Patient-derived iPSCs (ARID1B+/-), ATAC-seq, ChIP-seq, RNA-seq, CUT&RUN for BAF subunits during CNCC differentiation Nature communications High 34753942
2021 ARID1B deletion in ventral (inhibitory) neural progenitors decreases proliferation, alters cell cycle regulation, increases cell death, and decreases nuclear β-catenin localization in Arid1b-deficient neurons. Conditional homozygous deletion of Arid1b in ventral neural progenitors produces pronounced ID- and ASD-like behaviors, whereas deletion in cortical progenitors produces only minor cognitive deficits. Conditional and global Arid1b KO mouse models, BrdU proliferation assays, TUNEL apoptosis, immunofluorescence for β-catenin localization, behavioral testing Scientific reports Medium 33594090
2021 TNPO1 mediates nuclear import of ARID1B. In ARID1A-deficient gynecologic cancer cells, TNPO1 knockdown phenocopies ARID1B knockdown. TNPO1 or ARID1B knockdown reduces H3K4me1 and H3K27ac marks, decreases AP-1 family transcription factor binding, and inactivates PI3K/AKT signaling by reducing PIK3CA and FGFR2 expression. Gene expression profiling, siRNA knockdown, Co-IP, chromatin accessibility assays (ATAC-seq), ChIP for histone marks, in vitro and in vivo tumor growth assays Cancer letters Medium 34044070
2021 ARID1B directly interacts with the lncRNA NEAT1 of paraspeckles, mediating paraspeckle interaction with the cBAF-type SWI/SNF complex. ARID1B depletion decreases binding of paraspeckle proteins to chromatin modifiers, transcription factors, and histones. Loss of ARID1B and NEAT1 affects transcription and alternative splicing of a common set of genes. Biochemical fractionation, RNA immunoprecipitation (RIP), mass spectrometry, RNA-seq, splicing analysis EMBO reports Medium 36354291
2021 Cytoplasmic mislocalization of ARID1B (via NLS mutation) abolishes canonical transcription activation and tumor suppressor functions but confers oncogenic gain-of-function. Cytoplasm-localized ARID1B binds c-RAF (RAF1) and PPP1CA, stimulating RAF-ERK signaling and β-catenin transcriptional activity. NLS-mutant ARID1B from tumor samples shows cytoplasmic localization and activates ERK signaling. In silico NLS prediction, fluorescence subcellular localization, cellular fractionation, co-immunoprecipitation (cytoplasmic ARID1B with c-RAF/PPP1CA), xenograft assays, immunohistochemistry on tissue microarray Journal of cell science Medium 33443092
2021 ARID1B knockdown in lung cancer cells increases DNA damage, impairs DNA repair, alters chromatin accessibility, and activates the cGAS-STING innate immune pathway. siRNA knockdown, γH2AX foci, ATAC-seq for chromatin accessibility, cGAS-STING pathway markers Journal of Cancer Low 38577613
2021 ARID1B acts as a molecular suppressor of erythropoiesis under hypoxia. ARID1B knockdown in non-CMS (non-chronic mountain sickness) cells increases GATA1 expression by 3-fold and RBC levels by 100-fold under hypoxia. ARID1B modulates chromatin accessibility at GATA1/p53 target genes and controls p53 levels and EPO sensitivity. iPSC model system, siRNA knockdown, GATA1/p53 quantification, ATAC-seq for chromatin accessibility, RBC differentiation assays Experimental & molecular medicine Medium 35672450
2022 The ARID domain of BAF250b (ARID1B) adopts a helix-turn-helix structure with a short β-sheet absent in its paralog BAF250a ARID. NMR chemical shift perturbations identified the DNA-binding interface of BAF250b ARID. Isothermal titration calorimetry showed moderate-affinity DNA binding with distinct thermodynamic signatures compared to BAF250a ARID. NMR backbone resonance assignment, backbone dynamics analysis, NMR chemical shift perturbations, HADDOCK structural modeling, isothermal titration calorimetry Protein science High 35481652
2022 Early postnatal fluoxetine (SSRI) treatment in Arid1b+/- mice prevents synaptic and behavioral deficits in adults by normalizing HDAC4/MEF2A-related transcriptional regulation of SynGAP1 and Arc, and upregulating FMRP target genes. Arid1b haploinsufficiency causes persistent decreases in excitatory synaptic density and transmission. Fluoxetine treatment during postnatal weeks 1-3, electrophysiology (mEPSC), transcriptomic analysis (RNA-seq), behavioral assays Nature communications Medium 36030255
2023 ARID1B blocks methionine-stimulated mTOR activation by binding to a specific region of the mTOR promoter and repressing mTOR transcription. Methionine reduces ARID1B binding to the mTOR promoter and decreases ARID1B protein levels via proteasomal degradation (MG132 but not chloroquine restores ARID1B). PI3K signaling mediates Met-induced reduction of ARID1B levels. ChIP for ARID1B at mTOR promoter, ARID1B knockdown/overactivation, mTOR reporter and protein phosphorylation assays, proteasome inhibitor experiments (MG132), cycloheximide chase The Journal of nutritional biochemistry Medium 36681308
2024 Protein destabilization is the main mechanism by which pathogenic missense mutations in ARID1B cause Coffin-Siris syndrome, as demonstrated by saturated mutagenesis screens. Saturated mutagenesis screens (deep mutational scanning) Nature structural & molecular biology High 38347147
2024 Pathogenic non-truncating ARID1B variants in the EHD2 and ARID domains cause protein misfolding and formation of cytoplasmic aggresomes surrounded by vimentin cage-like structures co-localizing with the MTOC. ARID domain variants also form nuclear aggregates. Protein levels are not reduced (NMD does not occur). The aggregation is attributed to exposure of amyloidogenic segments predicted by in silico structural analysis. Overexpression assays in cell lines, fluorescence microscopy (aggresome detection), quantitative western blot, in silico structural analysis, genome-wide transcriptome and methylation analysis Human genetics Medium 39028335
2024 ARID1B loss in the GLI1+ mesenchymal stem cell (MSC) lineage disrupts MSC quiescence and promotes their proliferation via ectopic activation of non-canonical Activin signaling through p-ERK. ARID1B suppresses Bcl11b expression by binding directly to the third intron of Bcl11b. BCL11B, a BAF complex subunit, promotes non-canonical Activin signaling by regulating Inhba (activin A subunit) expression. Reducing Bcl11b or non-canonical Activin signaling rescues the MSC phenotype. scRNA-seq, scATAC-seq, mouse incisor Arid1b conditional KO model, ChIP for ARID1B at Bcl11b locus, genetic rescue (Bcl11b reduction), ERK phosphorylation analysis Nature communications High 38816354
2024 ARID1B controls chromatin accessibility at genomic regions targeted by TCF-like, NFI-like, and ARID-like transcription factors in callosal projection neurons expressing SATB2. In ARID1B+/- neural organoids, impaired SATB2+ neuron maturation and transcriptional dysregulation of corpus callosum development genes leads to defective long-range axonal projection formation. ARID1B+/- neural organoids, ATAC-seq for chromatin accessibility, RNA-seq, in vitro corpus callosum tract model for axonogenesis Cell stem cell High 38718796
2024 mRNA display identified peptidic ligands that bind ARID1B with nanomolar affinity and high selectivity over ARID1A. Two distinct binding pockets were identified on ARID1B, one of which involves an ARID1B-exclusive cysteine residue that could allow covalent targeting. mRNA display (in vitro selection), biochemical binding assays, biophysical methods, chemical biology tools, competitive binding assays ACS chemical biology Medium 38655884
2023 ARID1B nuclear import is mediated by the KPNA2-KPNB1-RANBP2 cascade. Mutations at ARID1B residues R1518, H1519, and D1522 (to T1518, G1519, G1522) attenuate ARID1B-KPNA2/KPNB1 interaction and prevent ARID1B recruitment to the nuclear pore complex. Pharmacological inhibition of KPNB1 suppresses ARID1B translocation to the nucleus. ARID1B negatively regulates ARID1A in the nucleus. Protein complex purification, mass spectrometry, site-directed mutagenesis, co-immunoprecipitation, KPNB1 inhibitor treatment, ARID1B KO mouse tumor models Advanced science (Weinheim, Baden-Wurttemberg, Germany) Medium 40671262

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 344 23202128
2014 ARID1B is a specific vulnerability in ARID1A-mutant cancers. Nature medicine 341 24562383
2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nature genetics 289 22426309
2014 SWI/SNF factors required for cellular resistance to DNA damage include ARID1A and ARID1B and show interdependent protein stability. Cancer research 158 24788099
2017 Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior. Nature neuroscience 146 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 121 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 107 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 94 27562491
2017 Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. eLife 91 28695822
2015 Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling. American journal of human genetics 74 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 66 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 58 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 51 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 40 33686214
2002 Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein. The Biochemical journal 36 11988099
2017 Melanotic Translocation Renal Cell Carcinoma With a Novel ARID1B-TFE3 Gene Fusion. The American journal of surgical pathology 35 28877054
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
2024 ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum. Cell stem cell 33 38718796
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
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 28 34753942
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 27 33748136
2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. BMC genomics 27 26376624
2021 Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development. Molecular autism 26 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
2020 Autism-associated miR-873 regulates ARID1B, SHANK3 and NRXN2 involved in neurodevelopment. Translational psychiatry 24 33262327
2018 The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior. Progress in neuro-psychopharmacology & biological psychiatry 24 30149092
2020 De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling. Human mutation 23 31981384
2018 ARID1B as a Potential Therapeutic Target for ARID1A-Mutant Ovarian Clear Cell Carcinoma. International journal of molecular sciences 23 29890703
2017 ARID1B alterations identify aggressive tumors in neuroblastoma. Oncotarget 22 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
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 19 24674232
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
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
2024 ARID1B Deficiency Leads to Impaired DNA Damage Response and Activated cGAS-STING Pathway in Non-Small Cell Lung Cancer. Journal of Cancer 15 38577613
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
2022 ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge's disease. Experimental & molecular medicine 14 35672450
2022 Early postnatal serotonin modulation prevents adult-stage deficits in Arid1b-deficient mice through synaptic transcriptional reprogramming. Nature communications 14 36030255
2015 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. American journal of medical genetics. Part A 14 26395437
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
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
2024 Protein destabilization underlies pathogenic missense mutations in ARID1B. Nature structural & molecular biology 10 38347147
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
2023 Pleiotropic effects of a high confidence Autism Spectrum Disorder gene, arid1b, on zebrafish sleep. Neurobiology of sleep and circadian rhythms 8 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 7 35481652
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
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
2020 Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B. Congenital anomalies 5 32618029
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
2022 Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients. Neurology India 4 36352633
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
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 3 38790056
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
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 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 Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report. BMC pediatrics 2 35964110
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
2025 ARID1A and ARID1B preserve B cell identity, prevent myeloid transformation and reveal therapeutic vulnerabilities. bioRxiv : the preprint server for biology 1 41000613

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