ARID1B

AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ARID1B gene.^[5] ARID1B is a component of the human SWI/SNF chromatin remodeling complex.

ARID1B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2CXY, 2EH9
Identifiers
Aliases	ARID1B, 6A3-5, BAF250B, BRIGHT, DAN15, ELD/OSA1, MRD12, OSA2, P250R, CSS1, AT-rich interaction domain 1B, SMARCF2
External IDs	OMIM: 614556; MGI: 1926129; HomoloGene: 32344; GeneCards: ARID1B; OMA:ARID1B - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q25.3 Start 156,776,020 bp[1] End 157,210,779 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 A1 Start 5,044,607 bp[2] End 5,397,931 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bone marrow cell epithelium of colon sural nerve buccal mucosa cell skin of arm Achilles tendon tonsil superior surface of tongue seminal vesicula left ovary Top expressed in Rostral migratory stream hand ciliary body lobe of prostate medullary collecting duct zygote cervix pineal gland epithelium of lens secondary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding transcription coactivator activity protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nBAF complex nucleus nucleoplasm cytosol plasma membrane cytoplasm SWI/SNF superfamily-type complex SWI/SNF complex brahma complex Biological process chromatin remodeling regulation of transcription, DNA-templated transcription, DNA-templated nervous system development neuron-neuron synaptic transmission dendritic spine development dendritic cell dendrite assembly response to ischemia cellular response to angiotensin chromatin organization regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57492 239985 Ensembl ENSG00000049618 ENSMUSG00000069729 UniProt Q8NFD5 E9Q4N7 RefSeq (mRNA) NM_017519 NM_001363725 NM_001371656 NM_001374820 NM_001374828 NM_001085355 RefSeq (protein) NP_059989 NP_001350654 NP_001358585 NP_001361749 NP_001361757 NP_001078824 Location (UCSC) Chr 6: 156.78 – 157.21 Mb Chr 17: 5.04 – 5.4 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

Germline mutations in ARID1B are associated with Coffin–Siris syndrome.^[6][7] Somatic mutations in ARID1B are associated with several cancer subtypes, suggesting that it is a tumor suppressor gene.^{[8][9][10][11]}

Interactions

ARID1B has been shown to interact with SMARCA4^[12][13] and SMARCA2.^[13]