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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CSSSCA4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed cardiovascular cardiomyopathy   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