Sequence in raw or FASTA format:
ARID1B AT rich interactive domain 1B (SWI1-like) [
Homo sapiens (human)]
Gene Symbol ARID1B
Entrez Gene ID
Full Name AT rich interactive domain 1B (SWI1-like)
Synonyms 6A3-5, BAF250B, BRIGHT, DAN15, ELD/OSA1, MRD12, OSA2, P250R
General protein information
Gene Type protein-coding
Homo sapiens (human)
Chromosome:6 Map Location:6q25.1
Summary 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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012].
ID Name Evidence
GO:0006351 transcription, DNA-templated IEA
GO:0007399 nervous system development IEA
GO:0048096 chromatin-mediated maintenance of transcription NAS
Related articles in PubMed APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. Ramanan VK, et al. Mol Psychiatry, 2013 Feb 19. PMID 23419831. Identification of the hypoxia-inducible factor 2α nuclear interactome in melanoma cells reveals master proteins involved in melanoma development. Steunou AL, et al. Mol Cell Proteomics, 2013 Mar. PMID 23275444. Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. Sausen M, et al. Nat Genet, 2013 Jan. PMID 23202128. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. Povlsen LK, et al. Nat Cell Biol, 2012 Oct. PMID 23000965. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629. See all (47) citations in PubMed See citations in PubMed for homologs of this gene provided by HomoloGene
GeneRIFs: Gene References Into Functions
What's a GeneRIF?
ARID1B is important in human brain development and function in general, and in the development of CC and in speech development in particular.
Title: Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
Identification of recurrent somatic mutations in the chromatin-remodeling gene ARID1B in the childhood cancer neuroblastoma.
Title: Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a common cause of ID.
Title: Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment.
Title: Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
For a number of genes affected by de novo copy number variants CNVs in autism (CNTNAP2, ZNF214, ARID1B, Proline Dehydrogenase), reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment.
Title: Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
Title: Gene-environment interaction in the etiology of mathematical ability using SNP sets.
Observational study of gene-disease association. (HuGE Navigator)
Title: Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein.
Title: Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein.
The chromatin remodeling factor ARID1B had a very similar pattern of expression with an incremental increase in HPFH and decreased expression in deltabeta-thalassemia.
Title: Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster.
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