SMARCC2

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which 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 and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SMARCC2

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 (PubMed:11018012).
Can stimulate the ATPase activity of the catalytic subunit of these complexes (PubMed:10078207).
May be required for CoREST dependent repression of neuronal specific gene promoters in non-neuronal cells (PubMed:12192000).
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).
Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation (By similarity).

Biological Process chromatin remodelingManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process nervous system developmentIEA:UniProtKB-KW
Biological Process nucleosome disassemblyManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process positive regulation of cell differentiation2 PublicationsIC:ComplexPortal
Biological Process positive regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of double-strand break repair2 PublicationsIC:ComplexPortal
Biological Process positive regulation of myoblast differentiation2 PublicationsIC:ComplexPortal
Biological Process positive regulation of T cell differentiation1 PublicationIC:ComplexPortal
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 transition2 PublicationsIC:ComplexPortal
Biological Process regulation of nucleotide-excision repair1 PublicationIC:ComplexPortal
Biological Process regulation of transcription by RNA polymerase II1 PublicationNAS:BHF-UCL

Nucleus

Coffin-Siris syndrome 8 (CSS8):
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS8 patients manifest prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. CSS8 inheritance is autosomal dominant.

Mono-ADP-ribosylation at Lys-312 by SIRT6 promotes recruitment to the enhancer region of the Heme oxygenase-1 (HO-1) locus, leading to transcription activation of the locus.