ACTL6B
Actin-like 6B: A chromatin remodeling subunit linked to neurodevelopmental disorders
Gene Information Card
| Symbol | ACTL6B |
|---|---|
| Full Name | actin like 6B |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 51412 ncbi.nlm.nih.gov/gene/51412 |
| Ensembl ID | ENSG00000177084 |
| UniProt ID | O94805 |
| OMIM ID | 612458 |
| HGNC ID | 160 |
| Aliases | BAF53B, SMARCN2, INO80S |
Description
ACTL6B (actin like 6B) encodes BAF53b, a neuron-specific actin-related protein that is a core subunit of the SWI/SNF (BAF) chromatin remodeling complex. This complex regulates gene expression by altering nucleosome positioning. BAF53b is essential for neuronal development, dendritic arborization, and synaptic plasticity. Mutations in ACTL6B cause autosomal recessive neurodevelopmental disorders characterized by intellectual disability, developmental delay, and autistic features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability and autistic features | Loss-of-function mutations in ACTL6B disrupt BAF53b incorporation into the BAF complex, impairing chromatin remodeling required for neuronal gene expression. | ClinVar, OMIM |
| Developmental and epileptic encephalopathy | Biallelic ACTL6B variants lead to severe epilepsy and developmental regression, likely due to altered synaptic gene regulation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 1.2 | Low |
| Heart | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
| Kidney | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.9 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | Glial model |
| HEK 293 (embryonic kidney) | 0.5 | Non-neuronal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94C>T (p.Arg32*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Likely loss of function; disrupts actin-fold domain |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein translation |
Mutation functional classification
Loss of Function (LOF)
Most reported ACTL6B mutations are loss-of-function (nonsense, frameshift, start loss) leading to haploinsufficiency or complete loss of BAF53b, impairing neuronal chromatin remodeling.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ACTL6B.
Dominant Negative (DN)
Dominant-negative effects are not established; the disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • nucleosome positioning |
| • regulation of transcription by RNA polymerase II | • neuron projection development |
| • dendrite morphogenesis | • synaptic plasticity |
Pathways
• SWI/SNF (BAF) complex-mediated chromatin remodeling
• Neuronal development and differentiation
Protein Summary
BAF53b (ACTL6B) is a 429-amino acid actin-related protein that specifically replaces the ubiquitous BAF53a (ACTL6A) in neuron-specific BAF complexes. It contains an actin-like fold that mediates ATP-dependent chromatin remodeling. BAF53b is critical for post-mitotic neuronal maturation, including dendritic outgrowth and synapse formation. Its expression is largely restricted to the brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTL6B Knockout HEK293 Cell Line | EDJ-KQ11087 | Human | 51412 | Details Get a Quote |
| ACTL6B Knockout HeLa Cell Line | EDJ-KQ56309 | Human | 51412 | Details Get a Quote |
| ACTL6B Knockout A-549 Cell Line | EDJ-KQ64798 | Human | 51412 | Details Get a Quote |
| ACTL6B Knockout HCT 116 Cell Line | EDJ-KQ73242 | Human | 51412 | Details Get a Quote |
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