SMARCA4, Official Symbol SMARCA4provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4provided by HGNC Primary source HGNC:HGNC:11100 See related Ensembl:ENSG00000127616 MIM:603254; AllianceGenome:HGNC:11100 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BRG1; CSS4; SNF2; SWI2; MRD16; RTPS2; BAF190; SNF2L4; SNF2LB; hSNF2b; BAF190A; SNF2-beta Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in testis (RPKM 21.8), brain (RPKM 14.5) and 25 other tissues See more Orthologs mouse all