SMARCA2

Chr 9p24.3

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

Aliases:: BAF190, hSNF2a, hBRM, Sth1p, SNF2LA
MANE:: ENST00000349721.8

OMIM: 600014 ↗NCBI: 6595 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SMARCA2 · P51531

v62025-08-01

Predicted Aligned Error matrix for SMARCA2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.1/ 100

Low

1,590 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)34%
Low(50–70)14%
Very low(< 50)34%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia

Disease associations (Open Targets)

intellectual disability-sparse hair-brachydactyly syndrome
0.85
intellectual disability - sparse hair - brachydactyly
0.85
blepharophimosis-impaired intellectual development syndrome
0.69
hereditary disease
0.52
Intellectual disability
0.50
blepharophimosis - intellectual disability syndrome
0.43
Coffin-Siris syndrome
0.41
Blepharophimosis-intellectual disability syndrome
0.37
neurodevelopmental disorder
0.34
gestational diabetes
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2

ATPase 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:15075294, 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)