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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACTL6B Gene

protein-coding   GIFtS: 60
GCID: GC07M100240

actin-like 6B

(Previous name: actin-like 6 )
(Previous symbol: ACTL6)
 Explore 5 diseases affiliated with
ACTL6B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACTL6B    

Aliases
for ACTL6B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Actin-Like 6B1 2     BRG1-Associated Factor 53B2 3
BAF53B1 2 3 5     Actin-Like Protein 6B2
ACTL61 2 3     ArpNalpha3
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


Summaries
for ACTL6B gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ACTL6B:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences 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 plasmid: ACTL6B promoter sequence
   Search SABiosciences Chromatin IP Primers for ACTL6B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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     

Proteins
for ACTL6B gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Nucleus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O94805

    • ACTL6B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057272.1  
    ENSEMBL proteins: 
     ENSP00000160382   ENSP00000420151  

    Human Recombinant Protein Products: 
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    Uscn Proteins for ACTL6B

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    ACTL6B for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ACTL6B

    Protein Domains /
    Families
    for ACTL6B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACTL6B for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004001 Actin_CS
     IPR004000 Actin-related

    Graphical View of Domain Structure for InterPro Entry O94805

    ProtoNet protein and cluster: O94805

    1 Blocks protein family: IPB004000 Actin/actin-like

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


    Function
    for ACTL6B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: ACTL6B
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACTL6B (see all 3)
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity NAS8804307
    GO:0005200structural constituent of cytoskeleton TAS10380635
    GO:0005524ATP binding IEA--


    ACTL6B for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Actl6btm1Grc for ACTL6B
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Actl6b):
     behavior/neurological  mortality/aging  nervous system 

    ACTL6B for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ACTL6B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Ligand-dependent activation of the ESR1/AP-1 pathway
    		Development_Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    		Transcription_Ligand-dependent activation of the ESR1/SP pathway0.37
    		Development Ligand-dependent activation of the ESR1/AP-1 pathway1.00
    		Transcription Ligand-dependent activation of the ESR1/SP pathway0.37

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for ACTL6B
        Development Ligand-dependent activation of the ESR1/AP-1 pathway
    Transcription Ligand-dependent activation of the ESR1/SP pathway


    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



    ACTL6B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACTL6B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/31 Interacting proteins for ACTL6B (O948052, 3 ENSP000001603824) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8270816 I2D: score=2 
    SMN2Q166372, 3MINT-8270816 I2D: score=2 
    ANXA7P200732, 3MINT-8247954 I2D: score=2 
    CDKN1AP389362, 3MINT-8251512 I2D: score=2 
    CSNK2BP678702, 3MINT-8252956 I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

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


    ACTL6B for ontologies           About GeneDecksing



    Drugs & Compounds
    for ACTL6B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACTL6B
    Search CenterWatch for drugs/clinical trials and news about ACTL6B / ACL6B 

    Transcripts
    for ACTL6B gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ACTL6B:
    hsa-miR-499-3p
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    Inhib. RNA
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    OriGene shRNA RFP: ACTL6B
    OriGene siRNA: ACTL6B
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    Clone
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTL6B

    Additional cDNA 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 

    24/63 AceView cDNA sequences (see all 63):

    BQ067475 CK819331 BG818499 CR621374 BQ882499 BU952641 BQ286017 BQ269377 
    AA338523 BM927079 CR594945 BM925542 BC020944 CR599365 BI755402 BC008582 
    NM_016188 BQ285986 BM480290 C15774 AA223970 BX461784 AL568176 AA775107 

    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

    Expression
    for ACTL6B gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACTL6B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCACATTGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ACTL6B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    EyeRetinaEye
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ACTL6B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACTL6B

    SOURCE GeneReport for Unigene cluster: Hs.259831
        SABiosciences Custom PCR Arrays for ACTL6B
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACTL6B
    In Situ
    Assay Products:     
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    Orthologs
    for ACTL6B gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACTL6B gene from 7/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia ACTL6B6
    		 --
    		 88(a)
    		 1 ↔ 1
    		 GL344705.1(2681-23832)
    zebrafish
    (Danio rerio)    		 Actinopterygii actl6b6
    		 actin-like 6B
    		 86(a)
    		 1 ↔ 1
    		 23(44588445-44610519)
    fruit fly
    (Drosophila melanogaster)    		 Insecta Bap556
    		 Brahma associated protein 55kD
    		 57(a)
    		 1 → many
    		 2R(13316858-13318465)
    worm
    (Caenorhabditis elegans)    		 Secernentea swsn-61 Protein SWSN-6 52.97(n)
    47.65(a)    		   177325  NM_068400.3  NP_500801.2 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes ARP4(YJL081C)4
    ARP41    		 Nuclear actin-related protein involved in chromatin more4
    Arp4p1    		 42.14(n)1
    29.93(a)1    		   10(285271-283802)4
    8533641, 4  NP_012454.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATARP46
    		 actin-related protein 4
    		 41(a)
    		 1 → many
    		 1(6348107-6351975)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 actin, putative, expressed
    		 32(a)
    		 1 → many
    		 8(2083557-2092721)


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

    Paralogs
    for ACTL6B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACTL6B gene
    ACTL6A2  
    18/23 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
    ACTA2    ACTR1A    ACTB    ACTBL2    ACTC1    ACTG2
    POTEKP    PS1TP5BP1    POTEE    POTEF    POTEI    POTEJ

    ACTL6B for paralogs           About GeneDecksing



    Genomic Variants
    for ACTL6B gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/224 NCBI SNPs in ACTL6B are shown (see all 224)     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
    		--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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ACTL6B
         1 CNV: 4550

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    Disorders / Diseases
    for ACTL6B gene

    (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.)
    About This Section
    ACTL6B for disorders           About GeneDecksing

    OMIM gene information: 612458    OMIM disorders: --

    5 diseases for ACTL6B:    About MalaCards
    spina bifida    fanconi's anemia    anemia    malaria
    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: ACTL6B (3 documents)

    Export disorders for ACTL6B gene to outside databases

    Publications
    for ACTL6B gene

    (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)
    About This Section

    PubMed articles for ACTL6B gene, integrated from 9 sources (see all 24):
    (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. (1998)
    2. 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. (2004)
    3. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    5. Identification of a polymorphic, neuron-specific chromatin remodeling complex. (PubMed id 12368262)1, 2 Olave I.... Crabtree G.R. (2002)
    6. 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. (1999)
    7. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)

    External Searches for ACTL6B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ACTL6B gene

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

    Other Databases showing ACTL6B gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACTL6B gene

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

    Intellectual Property
    for ACTL6B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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