SMARCA2

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]

SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically (PubMed:22952240, PubMed:26601204).
Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).

Biological Process chromatin remodelingManual Assertion Based On ExperimentTAS:BHF-UCL
Biological Process negative regulation of cell differentiation1 PublicationIC:ComplexPortal
Biological Process negative regulation of cell growthManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of cell population proliferationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentTAS:BHF-UCL
Biological Process nervous system developmentIEA:UniProtKB-KW
Biological Process positive regulation of cell differentiation2 PublicationsIC:ComplexPortal
Biological Process positive regulation of cell population proliferation1 PublicationIC:ComplexPortal
Biological Process positive regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of double-strand break repair1 PublicationIC:ComplexPortal
Biological Process positive regulation of myoblast differentiation1 PublicationIC:ComplexPortal
Biological Process positive regulation of stem cell population maintenance1 PublicationIC:ComplexPortal
Biological Process positive regulation of T cell differentiation1 PublicationIC:ComplexPortal
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process regulation of DNA-templated transcriptionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process regulation of G0 to G1 transition1 PublicationIC:ComplexPortal
Biological Process regulation of G1/S transition of mitotic cell cycle1 PublicationIC:ComplexPortal
Biological Process regulation of mitotic metaphase/anaphase transition1 PublicationIC:ComplexPortal
Biological Process regulation of nucleotide-excision repair1 PublicationIC:ComplexPortal
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentTAS:ProtInc
Biological Process spermatid developmentIEA:Ensembl

Nucleus

Nicolaides-Baraitser syndrome (NCBRS):
A rare disorder characterized by severe intellectual disability with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time.
Blepharophimosis-impaired intellectual development syndrome (BIS):
An autosomal dominant congenital syndrome characterized by blepharophimosis, facial dysmorphism, global development delay, delayed motor skills, impaired intellectual development with poor or absent speech, and behavioral abnormalities in some patients. Additional variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity.
Schizophrenia (SCZD):
A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.

During apoptosis, cleaved by cathepsin CTSG to produce a 160 kDa cleavage product which localizes to the cytosol.
Ubiquitinated.