Identity
HGNC
LOCATION
7q22.1
LOCUSID
ALIAS
ACTL6,BAF53B,DEE76,EIEE76,IDDSSAD,arpNalpha
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51412
MIM: 612458
HGNC: 160
Ensembl: ENSG00000077080
Variants:
dbSNP: 51412
ClinVar: 51412
TCGA: ENSG00000077080
COSMIC: ACTL6B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000077080 | ENST00000160382 | O94805 |
| ENSG00000077080 | ENST00000461605 | C9JQT4 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Chromatin organization | REACTOME | R-HSA-4839726 |
| Chromatin modifying enzymes | REACTOME | R-HSA-3247509 |
| RMTs methylate histone arginines | REACTOME | R-HSA-3214858 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33141462 | 2021 | An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model. | 5 |
| 33141462 | 2021 | An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model. | 5 |
| 32312822 | 2020 | Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. | 22 |
| 32312822 | 2020 | Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. | 22 |
| 30656450 | 2019 | Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy. | 9 |
| 31031012 | 2019 | Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. | 32 |
| 30656450 | 2019 | Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy. | 9 |
| 31031012 | 2019 | Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. | 32 |
| 28867141 | 2017 | Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. | 49 |
| 28867141 | 2017 | Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. | 49 |
| 26077106 | 2015 | Generation of BAF53b-Cre transgenic mice with pan-neuronal Cre activities. | 26 |
| 26077106 | 2015 | Generation of BAF53b-Cre transgenic mice with pan-neuronal Cre activities. | 26 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
Citation
Dessen P
ACTL6B (actin like 6B)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54103/actl6b-(actin-like-6b)
