ARID1B Gene

HGNC Family	AT rich interactive domain containing (ARID)
Name	AT rich interactive domain 1B (SWI1-like)
Description	This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ARID1B is a critical subunit of the SWI/SNF chromatin‐remodeling complexes that plays diverse roles in transcriptional regulation, cellular differentiation, and tumor suppression. As a homolog of ARID1A with approximately 60% sequence identity, ARID1B is incorporated in SWI/SNF assemblies in a mutually exclusive manner with ARID1A, and its DNA‐binding activity—albeit non–sequence-specific—contributes to the proper targeting and function of these complexes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In cancer cells, ARID1B has been shown to become a functional dependency particularly in ARID1A‐deficient contexts, where loss of ARID1B destabilizes the SWI/SNF complex and impairs cell proliferation; this synthetic lethal relationship identifies ARID1B as a promising therapeutic target in ARID1A‐mutant malignancies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Moreover, frequent alterations—including deletions and point mutations—of ARID1B have been observed in several tumor types such as Waldenström macroglobulinemia, neuroblastoma, and microsatellite unstable colorectal cancers, underscoring its role in oncogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": " In the context of developmental disorders, de novo truncating mutations or haploinsufficiency of ARID1B have been identified as major causes of Coffin‐Siris syndrome and are linked to intellectual disability, severe speech impairment, and corpus callosum abnormalities, highlighting its indispensable function in human brain development and proper neurocognitive formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, ARID1B is indispensable for establishing and maintaining proper chromatin accessibility at enhancer regions, thereby ensuring the precise regulation of gene expression during both normal cellular differentiation and in disease states.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Xiaomei Wang, Norman G Nagl, Deborah Wilsker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Two related ARID family proteins are alternative subunits of human SWI/SNF complexes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20040524"}], "href": "https://doi.org/10.1042/BJ20040524"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15170388"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15170388"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Katherine C Helming, Xiaofeng Wang, Boris G Wilson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ARID1B is a specific vulnerability in ARID1A-mutant cancers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nm.3480"}], "href": "https://doi.org/10.1038/nm.3480"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24562383"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24562383"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Timothy W R Kelso, Devin K Porter, Maria Luisa Amaral, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chromatin accessibility underlies synthetic lethality of SWI/SNF subunits in ARID1A-mutant cancers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.30506"}], "href": "https://doi.org/10.7554/eLife.30506"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28967863"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28967863"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Zachary R Hunter, Lian Xu, Guang Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2013-09-525808"}], "href": "https://doi.org/10.1182/blood-2013-09-525808"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24366360"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24366360"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Mark Sausen, Rebecca J Leary, Siân Jones, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2493"}], "href": "https://doi.org/10.1038/ng.2493"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23202128"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23202128"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Tatiana Cajuso, Ulrika A Hänninen, Johanna Kondelin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Cancer (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ijc.28705"}], "href": "https://doi.org/10.1002/ijc.28705"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24382590"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24382590"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Gijs W E Santen, Emmelien Aten, Yu Sun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2217"}], "href": "https://doi.org/10.1038/ng.2217"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22426309"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22426309"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "C Halgren, S Kjaergaard, M Bak, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2011.01755.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2011.01755.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21801163"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21801163"}]}]}]}
Synonyms	OSA2, 6A3-5, DAN15, MRD12, BAF250B, P250R, ELD/OSA1
Proteins	ARI1B_HUMAN
NCBI Gene ID	57492
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ARID1B has 9,383 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 125 datasets.

Click the + buttons to view associations for ARID1B from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ARID1B Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by ARID1B gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ARID1B gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ARID1B gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ARID1B gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ARID1B gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ARID1B gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ARID1B gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ARID1B gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ARID1B gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ARID1B gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ARID1B gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ARID1B protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ARID1B gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ARID1B gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ARID1B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ARID1B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with ARID1B gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ARID1B gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing ARID1B protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ARID1B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ARID1B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ARID1B protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ARID1B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ARID1B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing ARID1B protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ARID1B gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ARID1B gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ARID1B gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ARID1B gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ARID1B gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ARID1B protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ARID1B gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ARID1B gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ARID1B gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ARID1B gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ARID1B gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ARID1B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ARID1B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ARID1B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ARID1B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.