protein
SWI/SNF complex subunit SMARCC2
Gene
SMARCC2
Organism
Homo sapiens(9606)
Length
1214 aa
Mass
132,879 Da
SMARCC2 encodes a subunit of SWI/SNF chromatin remodeling complexes that regulate transcription through ATP-dependent alterations of DNA-histone contacts (UniProt: Q8TAQ2). The protein can stimulate the catalytic ATPase activity of these complexes and may participate in repression of neuronal genes in non-neuronal cells.
SMARCC2 is a core component of neural progenitor-specific (npBAF) and neuron-specific (nBAF) chromatin remodeling complexes that control neural development and differentiation. During neurogenesis, a coordinated exchange of subunits occurs as neural progenitors exit the cell cycle and commit to a postmitotic neuronal state. The npBAF complex is essential for neural stem cell self-renewal, while nBAF complexes regulate genes involved in dendrite growth. SMARCC2 also plays a critical role in myeloid differentiation and neutrophil development.
Pathogenic variants in SMARCC2 cause Coffin-Siris syndrome 8 (CSS8), an autosomal dominant disorder characterized by intellectual disability, distinctive facial features, hypoplastic fifth digits, and multiple organ system malformations. SMARCC2 carries SFARI classification as a syndromic autism-associated gene (SFARI Cat 2), reflecting its demonstrated link to neurodevelopmental phenotypes within syndromic presentations.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
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)
Disease associations
Coffin-Siris syndrome 8CSS8
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.
Sources
Last updated 5/6/2026, 5:23:48 AM