The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migrati... See more...

Aliases for ACTL6B Gene

Aliases for ACTL6B Gene

  • Actin Like 6B 2 3 5
  • 53 KDa BRG1-Associated Factor B 3 4
  • Actin-Related Protein Baf53b 3 4
  • BRG1-Associated Factor 53B 3 4
  • Actin-Like Protein 6B 3 4
  • ArpNalpha 3 4
  • BAF53B 3 4
  • ACTL6 3 4
  • Actin-Like 6 2
  • HArpN Alpha 3
  • IDDSSAD 3
  • EIEE76 3

External Ids for ACTL6B Gene

Previous HGNC Symbols for ACTL6B Gene

  • ACTL6

Previous GeneCards Identifiers for ACTL6B Gene

  • GC07M099885
  • GC07M100078
  • GC07M100240
  • GC07M094873

Summaries for ACTL6B Gene

Entrez Gene Summary for ACTL6B Gene

  • The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for ACTL6B Gene

ACTL6B (Actin Like 6B) is a Protein Coding gene. Diseases associated with ACTL6B include Epileptic Encephalopathy, Early Infantile, 76 and Intellectual Developmental Disorder With Severe Speech And Ambulation Defects. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Transcription Ligand-dependent activation of the ESR1/SP pathway. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and structural constituent of cytoskeleton. An important paralog of this gene is ACTL6A.

UniProtKB/Swiss-Prot Summary for ACTL6B Gene

  • 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).

Gene Wiki entry for ACTL6B Gene

Additional gene information for ACTL6B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTL6B Gene

Genomics for ACTL6B Gene

GeneHancer (GH) Regulatory Elements for ACTL6B Gene

Promoters and enhancers for ACTL6B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J100656 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 500.7 0.0 -39 1 HNRNPK ZBTB5 REST ZBTB11 AFF1 ZBTB26 MYC TOE1 TGIF2 MXI1 ACTL6B LOC105375429 lnc-ACTL6B-1 RF00017-6483
GH07J100514 Enhancer 1.1 Ensembl ENCODE 11.7 +140.5 140460 4.8 HNRNPK SP1 JUND FOS ZNF623 MYC RCOR1 EP300 ZEB1 RBM25 lnc-NYAP1-4 ZSCAN25 SRRT AP4M1 GIGYF1 ZNF655 SAP25 STAG3L5P PPP1R35 TRIM4
GH07J100913 Enhancer 0.8 ENCODE 11.6 -257.6 -257633 1.1 ZNF639 ZNF623 ZNF510 FOXA2 NR2F2 ZNF266 ZBTB33 ZBTB11 ZNF426 JUND piR-35997 piR-57461-244 AP4M1 SRRT GIGYF1 STAG3L5P ZNF3 TRIM4 ENSG00000242798 ZSCAN21
GH07J100395 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 1.2 +259.7 259655 2.1 ZBTB40 EP300 RELA TRIM22 BCL11A CBFB CTCF ARNT MEF2B NBN ENSG00000287631 PILRA PILRB ACTL6B piR-50129-244
GH07J100653 Enhancer 0.5 Ensembl 0.7 +3.0 2961 0.2 JUND ARID4B ARID1B FOSL2 SP7 ZNF394 AY115562 MOSPD3 ACTL6B TFR2 RF00017-6483
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTL6B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTL6B

Top Transcription factor binding sites by QIAGEN in the ACTL6B gene promoter:
  • CUTL1
  • Egr-4
  • HOXA5
  • LUN-1
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • Zic3

Genomic Locations for ACTL6B Gene

Genomic Locations for ACTL6B Gene
chr7:100,643,097-100,656,461
(GRCh38/hg38)
Size:
13,365 bases
Orientation:
Minus strand
chr7:100,240,720-100,254,084
(GRCh37/hg19)
Size:
13,365 bases
Orientation:
Minus strand

Genomic View for ACTL6B Gene

Genes around ACTL6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTL6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACTL6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTL6B Gene

Proteins for ACTL6B Gene

  • Protein details for ACTL6B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94805-ACL6B_HUMAN
    Recommended name:
    Actin-like protein 6B
    Protein Accession:
    O94805
    Secondary Accessions:
    • A4D2D0
    • O75421

    Protein attributes for ACTL6B Gene

    Size:
    426 amino acids
    Molecular mass:
    46877 Da
    Quaternary structure:
    • Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170 and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (PubMed:22952240, PubMed:26601204). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1 and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (PubMed:22952240, PubMed:26601204). Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A or SMARCD2/BAF60B or SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (ACTB). Note that the nBAF complex is polymorphic in regard to the ATPase, SMARCA2 and SMARCA4 occupying mutually exclusive positions. May be a component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:22952240, PubMed:26601204).
    SequenceCaution:
    • Sequence=AAC78795.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for ACTL6B Gene

Post-translational modifications for ACTL6B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTL6B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACTL6B Gene

Domains & Families for ACTL6B Gene

Gene Families for ACTL6B Gene

Protein Domains for ACTL6B Gene

Blocks:
  • Actin/actin-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACTL6B Gene

GenScript: Design optimal peptide antigens:
  • BRG1-associated factor 53B (ACL6B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94805

UniProtKB/Swiss-Prot:

ACL6B_HUMAN :
  • Belongs to the actin family.
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTL6B: view

Function for ACTL6B Gene

Molecular function for ACTL6B Gene

UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for ACTL6B Gene

Gene Ontology (GO) - Molecular Function for ACTL6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IBA 21873635
GO:0003713 transcription coactivator activity NAS 8804307
GO:0005200 structural constituent of cytoskeleton TAS 10380635
genes like me logo Genes that share ontologies with ACTL6B: view
genes like me logo Genes that share phenotypes with ACTL6B: view

Human Phenotype Ontology for ACTL6B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACTL6B Gene

MGI Knock Outs for ACTL6B:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL6B

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for ACTL6B Gene

Localization for ACTL6B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTL6B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACTL6B gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACTL6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10380635
GO:0005730 nucleolus IDA --
GO:0016514 SWI/SNF complex IBA,ISS --
GO:0035267 NuA4 histone acetyltransferase complex IBA 21873635
GO:0071565 nBAF complex IEA,ISS --
genes like me logo Genes that share ontologies with ACTL6B: view

Pathways & Interactions for ACTL6B Gene

genes like me logo Genes that share pathways with ACTL6B: view

Pathways by source for ACTL6B Gene

2 GeneGo (Thomson Reuters) pathways for ACTL6B Gene
  • Development Ligand-dependent activation of the ESR1/AP-1 pathway
  • Transcription Ligand-dependent activation of the ESR1/SP pathway

Gene Ontology (GO) - Biological Process for ACTL6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization NAS 10380635
GO:0006338 chromatin remodeling IDA 11726552
GO:0006357 regulation of transcription by RNA polymerase II NAS 8804307
GO:0007010 cytoskeleton organization IEA --
GO:0007399 nervous system development IBA 21873635
genes like me logo Genes that share ontologies with ACTL6B: view

No data available for SIGNOR curated interactions for ACTL6B Gene

Drugs & Compounds for ACTL6B Gene

No Compound Related Data Available

Transcripts for ACTL6B Gene

mRNA/cDNA for ACTL6B Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACTL6B

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACTL6B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: -
SP2:
SP3:

Relevant External Links for ACTL6B Gene

GeneLoc Exon Structure for
ACTL6B

Expression for ACTL6B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACTL6B Gene

mRNA differential expression in normal tissues according to GTEx for ACTL6B Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.2), Brain - Cerebellum (x6.1), Brain - Cortex (x6.1), Brain - Frontal Cortex (BA9) (x5.4), Brain - Nucleus accumbens (basal ganglia) (x4.3), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for ACTL6B Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (37.1) and Fetal Brain (25.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACTL6B Gene



Protein tissue co-expression partners for ACTL6B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTL6B

SOURCE GeneReport for Unigene cluster for ACTL6B Gene:

Hs.259831

Evidence on tissue expression from TISSUES for ACTL6B Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ACTL6B: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTL6B Gene

Orthologs for ACTL6B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACTL6B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACTL6B 31 30
  • 99.53 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACTL6B 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACTL6B 31 30
  • 93.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACTL6B 31 30
  • 93.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Actl6b 17 31 30
  • 92.33 (n)
rat
(Rattus norvegicus)
Mammalia Actl6b 30
  • 91.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACTL6B 31
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACTL6B 31
  • 82 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii actl6b 31
  • 86 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4364 30
fruit fly
(Drosophila melanogaster)
Insecta Bap55 31
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea swsn-6 31
  • 43 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR105C 30
  • 44.19 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARP4 33 31 30
  • 43.73 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D02288g 30
  • 43.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5416 31
  • 60 (a)
ManyToMany
-- 31
  • 60 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU02555 30
  • 50.75 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes arp42 30
  • 44.22 (n)
Species where no ortholog for ACTL6B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ACTL6B Gene

ENSEMBL:
Gene Tree for ACTL6B (if available)
TreeFam:
Gene Tree for ACTL6B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACTL6B: view image

Paralogs for ACTL6B Gene

(22) SIMAP similar genes for ACTL6B Gene using alignment to 2 proteins:

  • ACL6B_HUMAN
  • C9JQT4_HUMAN
genes like me logo Genes that share paralogs with ACTL6B: view

Variants for ACTL6B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTL6B Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
692137 Likely Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 100,655,099(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
692138 Likely Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 100,648,735(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
692139 Uncertain Significance: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 100,650,116(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
692140 Uncertain Significance: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 100,643,252(-) G/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
692141 Likely Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 100,647,055(-) G/C NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for ACTL6B Gene

Structural Variations from Database of Genomic Variants (DGV) for ACTL6B Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
esv3614301 CNV loss 21293372
nsv470381 CNV loss 18288195
nsv607933 CNV gain 21841781
nsv607934 CNV gain 21841781
nsv8184 CNV loss 18304495
nsv831072 CNV loss 17160897
nsv951386 CNV deletion 24416366

Variation tolerance for ACTL6B Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTL6B Gene

Human Gene Mutation Database (HGMD)
ACTL6B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTL6B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTL6B Gene

Disorders for ACTL6B Gene

MalaCards: The human disease database

(7) MalaCards diseases for ACTL6B Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ACL6B_HUMAN
  • Epileptic encephalopathy, early infantile, 76 (EIEE76) [MIM:618468]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE76 is an autosomal recessive form that may result in death in childhood. {ECO:0000269 PubMed:30237576, ECO:0000269 PubMed:30656450, ECO:0000269 PubMed:31031012}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) [MIM:618470]: An autosomal dominant neurodevelopmental disorder with onset in infancy, and characterized by global developmental delay, intellectual disability, ambulation deficits, severe language impairment, and minor dysmorphic features including a wide mouth, diastema, and bulbous nose. Additional manifestations are spasticity, hypotonia and autistic features including stereotypies. Brain imaging show thin corpus callosum, generalized atrophy, and mild periventricular gliosis. {ECO:0000269 PubMed:31031012}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACTL6B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACTL6B: view

No data available for Genatlas for ACTL6B Gene

Publications for ACTL6B Gene

  1. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. (PMID: 9799793) Glöckner G … Rosenthal A (Genome research 1998) 2 3 4 54
  2. 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. (PMID: 30656450) Fichera M … Elia M (Human genetics 2019) 3 4 54
  3. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. (PMID: 31031012) Bell S … Campeau PM (American journal of human genetics 2019) 3 4 54
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for ACTL6B Gene

Sources for ACTL6B Gene