Gene Symbol | SMARCA2 |
Entrez Gene ID | 6595 |
Full Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
Synonyms | BAF190,BRM,NCBRS,SNF2,SNF2L2,SNF2LA,SWI2,Sth1p,hBRM,hSNF2a |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]. |
Disorder MIM: | |
Disorder Html: | Nicolaides-Baraitser syndrome, 601358 (3) |