SMARCB1
SMARCB1 is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.
Overview
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumour formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal.
CIViC holds 24 clinical evidence items and 4 assertions across 5 variants, naming Tazemetostat and Panobinostat. Open Targets scores its association with cancer at 0.88 (direct and indirect evidence; datatypes genetic literature 0.91, affected pathway 0.87, literature 0.99, genetic association 0.85, somatic mutation 0.88, animal model 0.65). IntOGen calls it a driver in 5 cohorts (4 activating, 1 loss-of-function), covering Atypical Teratoid/Rhabdoid Tumour, Medulloblastoma, Neuroblastoma, Pancreatic Neuroendocrine Tumour, Pilocytic Astrocytoma.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · SMARCB1 is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.
- 1 · What it is
SMARCB1 is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.
- 2 · What goes wrong in cancer
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumour formation.
- 3 · How drugs use it
No product in this corpus aims at SMARCB1 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
External identifiers
Sources: HGNC HGNC:11103 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q12824 (protein name, function text, keywords and locations (REST API)); CIViC gene SMARCB1 (24 evidence items, 4 assertions, 5 variants; diseases: Poorly Differentiated Chordoma, Atypical Teratoid Rhabdoid Tumour, Rhabdoid Cancer, Epithelioid Sarcoma, Cribriform Neuroepithelial Tumour and 4 more (GraphQL API, CC0)); Open Targets ENSG00000099956 (association with cancer (MONDO_0004992) 0.88; per-cancer scores at or above 0.5: renal cell carcinoma 0.55, ovarian cancer 0.51, sarcoma 0.87 (GraphQL API, CC0)); IntOGen SMARCB1 (driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumour formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Location: Nucleus (UniProt). Locus 22q11.23 (HGNC).
- Sarcomas: Open Targets association 0.87 with sarcoma (MONDO_0005089)
- Neuroendocrine tumours: IntOGen driver in 1 cohort (PANET)
- Renal cell carcinoma: Open Targets association 0.55 with renal cell carcinoma (MONDO_0005086)
- Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170)
- Atypical teratoid/rhabdoid tumour: CIViC evidence names this disease; IntOGen driver in 1 cohort (ATRT)
- Epithelioid sarcoma: CIViC evidence names this disease
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 24 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
- Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Poorly Differentiated Chordoma; Rhabdoid Cancer; Cribriform Neuroepithelial Tumour; Renal Medullary Carcinoma; SMARCB1-deficient Renal Medullary Carcinoma.
Latest papers
topQuery for this target: (TITLE:"SMARCB1" OR ABSTRACT:"SMARCB1" OR TITLE:"SWI/SNF related BAF chromatin remodeling complex subunit B1" OR ABSTRACT:"SWI/SNF related BAF chromatin remodeling complex subunit B1" OR TITLE:"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1" OR ABSTRACT:"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1" OR TITLE:"BAF47" OR ABSTRACT:"BAF47" OR TITLE:"Ini1" OR ABSTRACT:"Ini1" OR TITLE:"INI-1" OR ABSTRACT:"INI-1") 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 SMARCB1, not a curated reading list.
Similar pages
not linked directly; found by shared links- TargetSMARCA4
Shares Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial), SWI/SNF chromatin remodelling, Neuroendocrine tumours, Sarcomas (soft tissue, bone, GIST).
- TargetPRKAR1A
Shares Medulloblastoma, Renal cell carcinoma, CIViC, IntOGen.
- TargetDDX6
Shares Medulloblastoma, Sarcomas (soft tissue, bone, GIST), IntOGen, Open Targets Platform.
- TargetSS18
Shares Synovial sarcoma, Sarcomas (soft tissue, bone, GIST), Open Targets Platform.
- TargetSSX1
Shares Synovial sarcoma, Sarcomas (soft tissue, bone, GIST), Open Targets Platform.
- TargetSMARCA2
Shares SWI/SNF chromatin remodelling, CIViC, IntOGen.
- TargetARID1A
Shares SWI/SNF chromatin remodelling, CIViC, IntOGen, Open Targets Platform.
- TargetSSX2
Shares Synovial sarcoma, Sarcomas (soft tissue, bone, GIST), Open Targets Platform.