ACTL6B (actin like 6B)

2014-08-01  

Identity

HGNC
LOCATION
7q22.1
LOCUSID
ALIAS
ACTL6,BAF53B,DEE76,EIEE76,IDDSSAD,arpNalpha
FUSION GENES

Other Information

Locus ID:

NCBI: 51412
MIM: 612458
HGNC: 160
Ensembl: ENSG00000077080

Variants:

dbSNP: 51412
ClinVar: 51412
TCGA: ENSG00000077080
COSMIC: ACTL6B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000077080ENST00000160382O94805
ENSG00000077080ENST00000461605C9JQT4

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
RMTs methylate histone argininesREACTOMER-HSA-3214858

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
288671412017Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.21
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
125658932003The brain-specific actin-related protein ArpN alpha interacts with the transcriptional co-repressor CtBP.6
260771062015Generation of BAF53b-Cre transgenic mice with pan-neuronal Cre activities.4
310310122019Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.3
306564502019Mutations 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.2

Citation

Dessen P

ACTL6B (actin like 6B)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54103/actl6b