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FLASH GENE
Symbol SMARCA4 contributors: mct/shn - updated : 22-04-2017
HGNC name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
HGNC id 11100
ASSOCIATED DISORDERS
corresponding disease(s) CSSSCA4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   deletion    
homozygously deleted in prostate and lung carcinomas
tumoral germinal mutation     loss of function
inactivating mutations in no-small-cell-lung cancer
tumoral somatic mutation     loss of function
in rhabdoid tumors (RTPS2),
constitutional       gain of function
in certain patients with hypertrophic cardiomyopathy, its level correlating with disease severity and myosin heavy chain changes
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cardiovascularcardiomyopathy 
BRG1/BAF may be a target for treating cardiac hypertrophy and failure
ANIMAL & CELL MODELS
  • Brg1 -/- mice died during the periimplantation stage
  • Brg1 heterozygotes for null mutation are predisposed to exencephaly and tumors
  • T lymphocyte-specific Brg1-deficient mice showed profound thymic abnormalities, CD4 derepression at the double negative (DN; CD4- CD8-) stage, and a developmental block at the DN to double positive (CD4+ CD8+) transition
  • BRG1-depleted oocytes completed meiosis and were fertilized but embryos conceived from BRG1-depleted eggs exhibited a zygotic genome activation phenotype including two-cell arrest and reduced transcription for approximately 30% of expressed genes involved in transcription, RNA processing, and cell cycle regulation
  • Brg1 mutant mouse embryos and RNAi knockdown cells exhibit a 50% reduction in replication fork progression rates, which is associated with decreased cell proliferation
  • genetic ablation of Brg1 in murine embryonic gonocytes results in arrest during prophase of meiosis I
  • mice deficient in the expression of Brg1, a subunit of
  • the complex with ATPase activity, showed defects in early B cell development