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ACTL6B Gene

protein-coding   GIFtS: 61
GCID: GC07M100240

Actin-Like 6B

(Previous name: actin-like 6)
(Previous symbol: ACTL6)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Actin-Like 6B1 2     BRG1-Associated Factor 53B2 3
ACTL61 2 3     Actin-Like Protein 6B2
BAF53B2 3 5     arpNalpha2
Actin-Like 61 2     HArpN Alpha2
Actin-Related Protein Baf53b2 3     ArpNalpha3
53 KDa BRG1-Associated Factor B2 3     

External Ids:    HGNC: 1601   Entrez Gene: 514122   Ensembl: ENSG000000770807   OMIM: 6124585   UniProtKB: O948053   

Export aliases for ACTL6B gene to outside databases

Previous GC identifers: GC07M099885 GC07M100078 GC07M094873


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACTL6B Gene:
ACTL6B (actin-like 6B) is a protein-coding gene. 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: ACL6B_HUMAN, O94805
Function: Belongs to the chromatin remodeling brain-specific BAF (bBAF) complex, as such plays a role in
remodeling mononucleosomes in an ATP-dependent fashion. Belongs to the neuron-specific chromatin remodeling
complex (nBAF complex) and is required for postmitotic neural development and dendritic outgrowth. During neural
development a switch from a stem/progenitor to a post-mitotic 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 post-mitotic 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)

Gene Wiki entry for ACTL6B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACTL6B gene promoter:
         USF1   USF2   LUN-1   USF-1:USF-2   CUTL1   Egr-4   HOXA5   USF-1   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTL6B promoter sequence
   Search Chromatin IP Primers for ACTL6B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACTL6B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22

ACTL6B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTL6B gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M100240:  view genomic region     (about GC identifiers)

Start:
100,240,720 bp from pter      End:
100,254,084 bp from pter
Size:
13,365 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 99,600,346-99,613,689     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACL6B_HUMAN, O94805 (See protein sequence)
Recommended Name: Actin-like protein 6B  
Size: 426 amino acids; 46877 Da
Subunit: Component of the bBAF complex, which includes at least actin (ACTB), ARID1A/BAF250, SMARCA2/BRM/BAF190B,
SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCC2/BAF170, SMARCD2/BAF60B and SMARCE1/BAF57. Note that
the bBAF complex is polymorphic in regard to the ATPase, SMARCA2 and SMARCA4 occupying mutually exclusive
positions. PBRM1 does not belong to bBAF complex. Component of neuron-specific chromatin remodeling complex (nBAF
complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C,
SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170,
DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity)
Sequence caution: Sequence=AAC78795.1; Type=Erroneous gene model prediction;
Secondary accessions: A4D2D0 O75421

Explore the universe of human proteins at neXtProt for ACTL6B: NX_O94805

Explore proteomics data for ACTL6B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys418
  • Modification sites at PhosphoSitePlus

  • See ACTL6B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057272.1  
    ENSEMBL proteins: 
     ENSP00000160382   ENSP00000420151  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR004001 Actin_CS
     IPR004000 Actin-related

    Graphical View of Domain Structure for InterPro Entry O94805

    ProtoNet protein and cluster: O94805

    1 Blocks protein domain: IPB004000 Actin/actin-like

    UniProtKB/Swiss-Prot: ACL6B_HUMAN, O94805
    Similarity: Belongs to the actin family


    Find genes that share domains with ACTL6B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACL6B_HUMAN, O94805
    Function: Belongs to the chromatin remodeling brain-specific BAF (bBAF) complex, as such plays a role in
    remodeling mononucleosomes in an ATP-dependent fashion. Belongs to the neuron-specific chromatin remodeling
    complex (nBAF complex) and is required for postmitotic neural development and dendritic outgrowth. During neural
    development a switch from a stem/progenitor to a post-mitotic 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 post-mitotic 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)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity NAS8804307
    GO:0005200structural constituent of cytoskeleton TAS10380635
         
    Find genes that share ontologies with ACTL6B           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ACTL6B:
     Decreased POU5F1-GFP protein e  Increased S DNA content 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Actl6b):
     behavior/neurological  mortality/aging  nervous system 

    Find genes that share phenotypes with ACTL6B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Actl6btm1Grc for ACTL6B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACTL6B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACTL6B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACTL6B

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACL6B_HUMAN, O94805: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10380635
    GO:0005730nucleolus IDA--
    GO:0016514SWI/SNF complex ISS--
    GO:0071565nBAF complex ISS--

    Find genes that share ontologies with ACTL6B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACTL6B About    
    See pathways by source

    SuperPathContained pathways About
    1Transcription Ligand dependent activation of the ESR1 SP pathway
    Transcription Ligand dependent activation of the ESR1 SP pathway0.37
    Development Ligand dependent activation of the ESR1 AP 1 pathway0.37
    2Prostate Cancer
    Prostate Cancer0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 BioSystems Pathway for ACTL6B
        Prostate Cancer



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACTL6B
    Interactions:

        Search GeneGlobe Interaction Network for ACTL6B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACTL6B (O948052, 3 ENSP000001603824) via UniProtKB, MINT, STRING, and/or I2D (see all 181)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8252956 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8252956 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8252956 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8252956 I2D: score=2 
    ENSG00000228875P678702, 3MINT-8252956 I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006325chromatin organization NAS10380635
    GO:0006338chromatin remodeling IDA11726552
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter NAS8804307
    GO:0007399nervous system development IEA--

    Find genes that share ontologies with ACTL6B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACTL6B (ACL6B)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACTL6B gene: 
    NM_016188.4  

    Unigene Cluster for ACTL6B:

    Actin-like 6B
    Hs.259831  [show with all ESTs]
    Unigene Representative Sequence: BM925857
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000160382(uc003uvy.3 uc003uvz.3) ENST00000487125 ENST00000485601
    ENST00000487225 ENST00000489904 ENST00000461605
    miRNA
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    hsa-miR-499-3p
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    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat ACTL6B

    Additional mRNA sequence: 

    AB015906.1 AF041475.1 AK314940.1 BC008582.1 BC020944.1 

    6 DOTS entries:

    DT.112748  DT.101978868  DT.95267749  DT.100654218  DT.121038744  DT.95267751 

    Selected AceView cDNA sequences (see all 63):

    BQ286017 BU952641 BQ269377 CR599365 BM480290 BC008582 NM_016188 CR621374 
    BC020944 BI755402 BG818499 CR594945 BM927079 BQ882499 BM925542 BQ285986 
    AA338523 CK819331 BQ067475 BE222357 BX488976 BM679849 C15841 AF041475 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ACTL6B    About this scheme

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


    ECgene alternative splicing isoforms for ACTL6B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACTL6B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCACATTGCC
    ACTL6B Expression
    About this image


    ACTL6B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             superior temporal gyrus   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Eye (Sensory Organs)
             Retina
     
     Spinal Cord (Nervous System)
    ACTL6B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTL6B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.259831
        Custom PCR Arrays for ACTL6B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTL6B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ACTL6B gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actl6b1 , 5 actin-like 6B1, 5 92.33(n)1
    99.77(a)1
      5 (76.56 cM)5
    837661  NM_031404.41  NP_113581.11 
     1375535175 
    lizard
    (Anolis carolinensis)
    Reptilia ACTL6B6
    actin-like 6B
    82(a)
    1 ↔ 1
    GL344705.1(2681-24215)
    zebrafish
    (Danio rerio)
    Actinopterygii actl6b6
    actin-like 6B
    86(a)
    1 ↔ 1
    23(44588445-44610519) ENSDARG00000034107
    fruit fly
    (Drosophila melanogaster)
    Insecta Bap556
    Brahma associated protein 55kD
    52(a)
    1 → many
    2R(13316858-13318465)
    worm
    (Caenorhabditis elegans)
    Secernentea swsn-66
    Protein SWSN-6 (swsn-6) mRNA, complete cds
    43(a)
    1 → many
    IV(5394962-5396969) WBGene00022774
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARP4(YJL081C)4
    ARP41
    Nuclear actin-related protein involved in chromatin more4
    ARP41
    43.73(n)1
    34.02(a)1
      10(285271-283802)4
    8533641, 4  NP_012454.11, 4 


    ENSEMBL Gene Tree for ACTL6B (if available)
    TreeFam Gene Tree for ACTL6B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACTL6B gene
    ACTL6A2  
    Selected SIMAP similar genes for ACTL6B using alignment to 2 protein entries:     ACL6B_HUMAN (see all proteins) (see all similar genes):
    ACTL6A    BAF53A    ACTR3    ACT    ACTG1    ACTR2
    POTEM    ACTA2    ACTR1A    ACTB    ACTBL2    ACTC1
    ACTG2    POTEKP    PS1TP5BP1    POTEE    POTEF    POTEI

    Find genes that share paralogs with ACTL6B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACTL6B (see all 298)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs121550571,2
    C,F,H--100241402(+) CCAACA/GCTGTG 1 -- int110Minor allele frequency- G:0.02NS EA NA 1098
    rs1141725121,2
    F--100241989(+) ATGTGC/TTGTCC 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1841144221,2
    --100242017(+) CTTCCC/TGTAGC 1 -- int10--------
    rs1459566471,2
    --100242111(+) TTGCTC/TTGTCA 1 -- int10--------
    rs1398666331,2
    --100242214(+) TACAGA/GTATGC 1 -- int10--------
    rs73838561,2
    C--100242411(+) tggtgA/Gctcac 1 -- int10--------
    rs1886184311,2
    --100242484(+) GACAAA/GCTTAG 1 -- int10--------
    rs1927177531,2
    --100242486(+) CAAGCG/TTAGCC 1 -- int10--------
    rs1823498331,2
    --100242606(+) CCCAGA/GAGATG 1 -- int10--------
    rs1866216371,2
    --100242613(+) GATGGA/CGGTTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for ACTL6B (100240720 - 100254084 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ACTL6B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734888CNV Deletion23290073
    nsv888792CNV Loss21882294
    nsv470381CNV Loss18288195
    nsv888791CNV Loss21882294
    nsv888779CNV Loss21882294
    dgv7399n71CNV Loss21882294
    nsv831072CNV Loss17160897
    nsv8184CNV Loss18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACTL6B
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTL6B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612458    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for ACTL6B:
    Spina bifida

    Find genes that share disorders with ACTL6B           About GenesLikeMe

    Genetic Association Database (GAD): ACTL6B
    Human Genome Epidemiology (HuGE) Navigator: ACTL6B (3 documents)

    Export disorders for ACTL6B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACTL6B gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with ACTL6B)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 9799793)1, 2, 3 Gloeckner G.... Rosenthal A. (Genome Res. 1998)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    6. Identification of a polymorphic, neuron-specific chromatin remodeling complex. (PubMed id 12368262)1, 2 Olave I.... Crabtree G.R. (Genes Dev. 2002)
    7. Two isoforms of a human actin-related protein show nuclear localization and mutually selective expression between brain and other tissues. (PubMed id 10380635)1, 2 Harata M.... Mizuno S. (Biosci. Biotechnol. Biochem. 1999)
    8. Seventy-five genetic loci influencing the human red blood cell. (PubMed id 23222517)1 van der Harst P....Chambers J.C. (Nature 2012)
    9. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51412 HGNC: 160 AceView: ACTL6B Ensembl:ENSG00000077080 euGenes: HUgn51412
    ECgene: ACTL6B H-InvDB: ACTL6B

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACTL6B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACTL6B gene:
    Search GeneIP for patents involving ACTL6B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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