Family

SWI/SNF complex subunit SMARCA2 (IPR030088)

Short name: SMARCA2

Family relationships

None.

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 [PMID: 22366787]. In humans SMARCA2 shares 73% sequence identity with BRG1 and has similar ATPase function in the SWI/SNF complex [PMID: 17274598]. Similar to BRG1, SMARCA2 contains a C-terminal bromodomain that may anchor the entire SWI/SNF complex to promoter nucleosomes [PMID: 17274598]. SMARCA2 may function as tumour suppressor [PMID: 19234488].

Heterozygous variants in SMARCA2 gene cause Nicolaides-Baraitser syndrome, which is characterised by sparse hair, distinctive facial morphology, distal-limb anomalies and intellectual disability [PMID: 22366787].

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 [PMID: 1346755], is also included in this entry.

GO terms

Biological Process

GO:0006338 chromatin remodeling

Molecular Function

GO:0016887 ATPase activity

Cellular Component

GO:0016514 SWI/SNF complex

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER