AlphaFold predicted structure
ACTL6B · O94805
Mean pLDDT
91.0/ 100
Very high
426 residues
Confidence breakdown
- Very high(≥ 90)87%
- Confident(70–90)5%
- Low(50–70)2%
- Very low(< 50)5%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ACTL6B
Chr 7q22.1actin like 6B
- Aliases:
- BAF53B, SMARCN2
- MANE:
- ENST00000160382.10
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disease associations (Open Targets)
genetic developmental and epileptic encephalopathy
0.68intellectual developmental disorder with severe speech and ambulation defects
0.65autosomal dominant non-syndromic intellectual disability
0.55autism spectrum disorder
0.50early-infantile DEE
0.46hereditary disease
0.41Intellectual disability
0.41undetermined early-onset epileptic encephalopathy
0.37complex neurodevelopmental disorder
0.37autism
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Actin-like protein 6B
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. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth. 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. ACTL6B/BAF53B is not essential for assembly of the nBAF complex but is required for targeting the complex and CREST to the promoter of genes essential for dendritic growth (By similarity). Essential for neuronal maturation and dendrite development (PubMed:31031012)
Diseases associated with ACTL6B
Curated MONDO disease pages that list ACTL6B among their top associated genes.