ARID1B (AT-rich interactive domain-containing protein 1B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Colorectal cancer, Renal cell carcinoma and 5 more.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex).
CIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes affected pathway 0.29, literature 0.94, genetic association 0.30, somatic mutation 0.95, animal model 0.46). IntOGen calls it a driver in 22 cohorts (4 activating, 16 loss-of-function), covering Angiosarcoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cervical Adenocarcinoma, Colorectal Adenocarcinoma and others.
In plain words · ARID1B (AT-rich interactive domain-containing protein 1B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Colorectal cancer, Renal cell carcinoma and 5 more.
ARID1B (AT-rich interactive domain-containing protein 1B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Colorectal cancer, Renal cell carcinoma and 5 more.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).
No product in this corpus aims at ARID1B yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ARID1B: RNA low tissue specificity; high antibody staining in 14 normal tissues; highest cancer staining head and neck cancer (1 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Colorectal cancer, Renal cell carcinoma, Endometrial cancer, Bladder & urothelial cancer, Cervical cancer, Hepatocellular carcinoma and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q8NFD5; CIViC gene ARID1B; IntOGen ARID1B; Human Protein Atlas ARID1B tissue; Open Targets ENSG00000049618 associations
First described 1996. Earliest sequence paper UniProt cites for the protein: Imbert et al, Nat. Genet, 1996, "Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats". Source.
Sources: HGNC HGNC:18040 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q8NFD5 (protein name, function text, keywords and locations (REST API)); CIViC gene ARID1B (1 evidence items, 0 assertions, 1 variants; diseases: (GraphQL API, CC0)); Open Targets ENSG00000049618 (association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.56, ovarian cancer 0.55, endometrial cancer 0.53, melanoma 0.55, skin cancer 0.56, breast cancer 0.59 (GraphQL API, CC0)); IntOGen ARID1B (driver in 22 cohorts (Act 4, LoF 16); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). Location: Nucleus (UniProt). Locus 6q25.3 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Adipose tissue, Adrenal gland, Breast, Bronchus, Caudate, Cervix, Colon, Duodenum.
Medium only: carcinoid, colorectal cancer, endometrial cancer, glioma.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"ARID1B" OR ABSTRACT:"ARID1B" OR TITLE:"AT-rich interaction domain 1B" OR ABSTRACT:"AT-rich interaction domain 1B" OR TITLE:"AT-rich interactive domain-containing protein 1B" OR ABSTRACT:"AT-rich interactive domain-containing protein 1B" OR TITLE:"KIAA1235" OR ABSTRACT:"KIAA1235" OR TITLE:"ELD/OSA1" OR ABSTRACT:"ELD/OSA1" OR TITLE:"p250R" OR ABSTRACT:"p250R") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about ARID1B, not a curated reading list.