菜单 基因医生

该基因编码的蛋白质是SWI/SNF蛋白家族的成员,与果蝇的brahma蛋白高度相似这个家族的成员有螺旋酶和atpase活性,被认为通过改变这些基因周围的染色质结构来调节某些基因的转录。编码的蛋白质是大的atp依赖性染色质重塑复合物snf/swi的一部分,snf/swi是染色质正常抑制基因转录激活所必需的。另外,该基因还发现了编码不同亚型的剪接转录变体,其中包含一个三核苷酸重复序列(CAG)长度多态性[由RefSeq提供,2014年1月]
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]

基因名:SMARCA2
别名:BRM,SNF2,SWI2,hBRM,NCBRS,Sth1p,BAF190,SNF2L2,SNF2LA,hSNF2a
基因ID:6595
Chromosome:
(GRCh37)
9 Start: 2015342 End: 2193624 Strand: 
信号通路:  
SMARCA2 基因突变与药物