| Primary Identifier | IPR030088 | Type | Family |
| Short Name | SMARCA2 |
| 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. |
