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Search results 1 to 1 out of 1 for Smarca2

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: BRM (also know as SMARCA2, BAF190B, SNF2A or SNF2L2) contains the Snf2 family ATPase domain and is a core enzymatic subunit of the SWI/SNF complex, an ATP-dependent chromatin remodelling complex that regulates gene expression through regulating nucleosome remodelling []. In humans SMARCA2 shares 73%sequence identity with BRG1 and has similar ATPase function in the SWI/SNF complex []. Similar to BRG1, SMARCA2 contains a C-terminal bromodomain that may anchor the entire SWI/SNF complex to promoter nucleosomes []. SMARCA2 may function as tumour suppressor []. Heterozygous variants in SMARCA2 gene cause Nicolaides-Baraitser syndrome, which is characterised by sparse hair, distinctive facial morphology, distal-limb anomalies and intellectual disability []. The ATP-dependent helicase brm from Drosophila, which is the ATPase subunit of the Brahma complex for remodeling chromatin by catalyzing an ATP-dependent alteration in the structure of nucleosomal DNA [], is also included in this entry.