SMARCA4

Also known as BAF190, BAF190A, BRG1, MRD16, RTPS2, SNF2, SNF2L4, SNF2LB

Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is a protein that in humans is encoded by the SMARCA4 gene.

Gene data

SMARCA4

Name: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
Type: protein-coding
Position: 10,960,824–11,079,426 (+)
Aliases: BAF190, BAF190A, BRG1, CSS4, MRD16, OTSC12, RTPS2, SNF2, SNF2-beta, SNF2L4
Ensembl: ENSG00000127616
RefSeq RNA: NM_001128844.3, NM_001128845.2, NM_001128846.2, NM_001128847.4, NM_001128848.2
RefSeq protein: NP_001122316.1, NP_001122317.1, NP_001122318.1, NP_001122319.1, NP_001122320.1

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].