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ACTB Gene

protein-coding   GIFtS: 71
GCID: GC07M005566

Actin, Beta

  See related diseases
at  

(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, Beta1 2     Beta Cytoskeletal Actin2
BRWS12 5     PS1TP5-Binding Protein 12
PS1TP5BP12     Beta-actin3
Actin, Cytoplasmic 12     

External Ids:    HGNC: 1321   Entrez Gene: 602   Ensembl: ENSG000000756247   OMIM: 1026305   UniProtKB: P607093   

Export aliases for ACTB gene to outside databases

Previous GC identifers: GC07M005211 GC07M005311 GC07M005340 GC07M005533 GC07M005479


(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 ACTB Gene:
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in
cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one
of the two nonmuscle cytoskeletal actins. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACTB Gene:
ACTB (actin, beta) is a protein-coding gene. Diseases associated with ACTB include phaeohyphomycosis, and baraitser-winter syndrome 1. GO annotations related to this gene include protein kinase binding and kinesin binding. An important paralog of this gene is ACTG2.

UniProtKB/Swiss-Prot: ACTB_HUMAN, P60709
Function: Actins are highly conserved proteins that are involved in various types of cell motility and are
ubiquitously expressed in all eukaryotic cells

summary for ACTB Gene:
Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found
in two main states; G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G-
and F-actin are intrinsically flexible structures - a feature vital in actin's role as a dynamic filament
network. Actin has four major functions. Firstly, F-actin polymers form microfilaments - polar intracellular
'tracks' for kinesin motor proteins, allowing the transport of vesicles, organelles and other cargo. Actin
is a component of the cytoskeleton and links to alpha-actinin, E-cadherin and beta-catenin at adherens
junctions. This gives mechanical support to cells and attaches them to each other and the extracellular
matrix. In muscle cells, actin-rich thin filaments associate with myosin-rich thick filaments to form
actomyosin myofibrils. Using energy from the hydrolysis of ATP, myofibrils undergo cyclic shortening through
actin-myosin head interactions, which represents the mechanics of muscle contraction. Finally, actin has a
role in cell motility through polymerization and depolymerization of fibrils.

Gene Wiki entry for ACTB (Beta-actin) 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:
NC_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACTB gene promoter:
         SRF   STAT1   Sp1   p53   AP-1   SRF (504 AA)   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ACTB promoter sequence
   Search Chromatin IP Primers for ACTB

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


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

Entrez Gene cytogenetic band: 7p22   Ensembl cytogenetic band:  7p22.1   HGNC cytogenetic band: 7p22

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M005566:  view genomic region     (about GC identifiers)

Start:
5,566,779 bp from pter      End:
5,603,415 bp from pter
Size:
36,637 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 5,613,124-5,616,577     

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: ACTB_HUMAN, P60709 (See protein sequence)
Recommended Name: Actin, cytoplasmic 1  
Size: 375 amino acids; 41737 Da
Subunit: Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a
two-stranded helix. Each actin can bind to 4 others. Identified in a IGF2BP1-dependent mRNP granule complex
containing untranslated mRNAs. Component of the BAF complex, which includes at least actin (ACTB), ARID1A,
ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170,
SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF
complex also contains DPF3. Found in a complex with XPO6, Ran, ACTB and PFN1. Component of the MLL5-L complex, at
least composed of KMT2E/MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with XPO6 and EMD.
Interacts with ERBB2. Interacts with GCSAM
Miscellaneous: In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The
alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and
gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell
motility
3 PDB 3D structures from and Proteopedia for ACTB:
3BYH (3D)        3D2U (3D)        3LUE (3D)    
Secondary accessions: P02570 P70514 P99021 Q11211 Q64316 Q75MN2 Q96B34 Q96HG5

Explore the universe of human proteins at neXtProt for ACTB: NX_P60709

Explore proteomics data for ACTB at MOPED

Post-translational modifications: 

  • ISGylated1
  • Oxidation of Met-44 and Met-47 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin
    filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by
    MSRB1 and MSRB2, which promote actin repolymerization (By similarity)1
  • Monomethylation at Lys-84 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes.
    Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow
    ingression during cytokinesis and cell migration1
  • Ubiquitination2 at Lys50, Lys61, Lys84, Lys113, Lys191, Lys213, Lys215, Lys291, Lys315, Lys326,
                                 Lys328
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_001092.1  
    ENSEMBL proteins: 
     ENSP00000349960   ENSP00000409264   ENSP00000407473   ENSP00000393951   ENSP00000399487  
     ENSP00000401032  
    Reactome Protein details: P60709

    ACTB Human Recombinant Protein Products:

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    OriGene Purified Proteins for ACTB
    OriGene Protein Over-expression Lysate for ACTB
    OriGene MassSpec for ACTB
    OriGene Custom Protein Services for ACTB
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    Novus Biologicals ACTB Protein
    Novus Biologicals ACTB Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    ACTB Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACTB
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    Abcam antibodies for ACTB
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for ACTB
    LSBio Antibodies in human, mouse, rat for ACTB

    ACTB Assay Products:

    EMD Millipore Kits and Assays for the Analysis of ACTB
    OriGene Custom Assay Services for ACTB
    Browse R&D Systems for biochemical assays
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    Cell Signaling Technology (CST) Sandwich ELISA Kits for ACTB
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR020902 Actin/actin-like_CS
     IPR004001 Actin_CS
     IPR004000 Actin-related

    Graphical View of Domain Structure for InterPro Entry P60709

    ProtoNet protein and cluster: P60709

    UniProtKB/Swiss-Prot: ACTB_HUMAN, P60709
    Similarity: Belongs to the actin family


    ACTB for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACTB_HUMAN, P60709
    Function: Actins are highly conserved proteins that are involved in various types of cell motility and are
    ubiquitously expressed in all eukaryotic cells

         Genatlas biochemistry entry for ACTB:
    actin,beta,cytoplasmic,major constituent of microfilaments

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS6202424
    GO:0005515protein binding IPI14592989
    GO:0005524ATP binding IEA--
    GO:0019894kinesin binding IPI18680169
    GO:0019901protein kinase binding IEA--
         
    ACTB for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ACTB:
     Decreased focal adhesion (FA)   Decreased homologous recombina  Weaker migration 

         Selected MGI mutant phenotypes (inferred from 14 alleles(MGI details for Actb) (see all 19):
     adipose tissue  behavior/neurological  cardiovascular system  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  muscle  nervous system  no phenotypic analysis 

    ACTB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Actbtm1Bhr for ACTB

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACTB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACTB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACTB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACTB

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACTB:
    hsa-let-7a-5p (MIRT052403), hsa-mir-92a-3p (MIRT049406), hsa-mir-222-3p (MIRT046589), hsa-mir-100-5p (MIRT048522), hsa-mir-16-5p (MIRT051251), hsa-mir-484 (MIRT041669), hsa-mir-455-3p (MIRT037834), hsa-let-7b-5p (MIRT051913), hsa-mir-744-5p (MIRT037388), hsa-mir-221-3p (MIRT046843), hsa-let-7c-5p (MIRT051732), hsa-mir-3176 (MIRT052797), hsa-mir-1 (MIRT024098), hsa-mir-326 (MIRT043650), hsa-mir-1295a (MIRT035901), hsa-mir-1307-3p (MIRT035818), hsa-mir-644a (MIRT007163), hsa-mir-324-5p (MIRT043141), hsa-mir-378a-3p (MIRT043906), hsa-mir-320a (MIRT044755), hsa-mir-93-3p (MIRT038781), hsa-mir-1303 (MIRT035877), hsa-mir-196a-5p (MIRT048244)

    Block miRNA regulation of human, mouse, rat ACTB using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate ACTB:
    hsa-miR-3673 hsa-miR-4325 hsa-miR-4328 hsa-let-7g* hsa-miR-145 hsa-let-7a-2* hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmidACTB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACTB
    Predesigned siRNA for gene silencing in human, mouse, rat ACTB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACTB

    Clone
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    OriGene clones in human, mouse for ACTB (see all 7)
    OriGene ORF clones in mouse, rat for ACTB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACTB (NM_001101)
    Sino Biological Human cDNA Clone for ACTB
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACTB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTB

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ACTB
    Browse ESI BIO Cell Lines and PureStem Progenitors for ACTB 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTB


    (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
    ACTB_HUMAN, P60709: Cytoplasm, cytoskeleton. Note=Localized in cytoplasmic mRNP granules containing untranslated
    mRNAs
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    extracellular5
    nucleus5
    cytosol4
    mitochondrion2
    plasma membrane2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm TAS16130169
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton TAS16130169

    ACTB for ontologies           About GeneDecksing


    (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 ACTB About   (see all 72)  
    See pathways by source

    SuperPathContained pathways About
    1Development Slit Robo signaling
    Development Slit Robo signaling0.92
    Pathogenic Escherichia coli infection0.41
    Cytoskeleton remodeling Slit Robo signaling0.92
    Neurophysiological process Receptor mediated axon growth repulsion0.41
    Pathogenic Escherichia coli infection0.43
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    3Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    Transport Clathrin coated vesicle cycle0.66
    4Focal adhesion
    Focal adhesion0.65
    Focal Adhesion0.65
    5Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ACTB (see all 43)
        RhoA Pathway
    Paxillin Interactions
    Antioxidant Action of Vitamin-C
    Tec Kinases Signaling
    ITK and TCR Signaling

    1 Cell Signaling Technology (CST) Pathway for ACTB
        Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for ACTB (see all 30)
        Immune response CD16 signaling in NK cells
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cytoskeleton remodeling Keratin filaments
    Development Slit-Robo signaling

    5 BioSystems Pathways for ACTB
        Myometrial Relaxation and Contraction Pathways
    Focal Adhesion
    Regulation of Actin Cytoskeleton
    Arrhythmogenic right ventricular cardiomyopathy
    Pathogenic Escherichia coli infection


    Selected Reactome Pathways for ACTB (see all 12)
        Gap junction degradation
    HATs acetylate histones
    Interaction between L1 and Ankyrins
    Cell-extracellular matrix interactions
    Prefoldin mediated transfer of substrate to CCT/TriC


    Selected Kegg Pathways  (Kegg details for ACTB) (see all 22):
        Rap1 signaling pathway
    Phagosome
    Hippo signaling pathway
    Focal adhesion
    Adherens junction


    ACTB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTB (see all 149): 
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACTB

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

    Selected Interacting proteins for ACTB (P607091, 2, 3 ENSP000003499604) via UniProtKB, MINT, STRING, and/or I2D (see all 1612)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    HIST1H4BP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    HIST1H4CP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    HIST1H4DP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    HIST1H4EP628052, 3MINT-7899812 MINT-7900157 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001895retina homeostasis IEP--
    GO:0006325chromatin organization TAS--
    GO:0006457protein folding TAS--
    GO:0006928cellular component movement TAS16130169
    GO:0007409axonogenesis ----

    ACTB for ontologies           About GeneDecksing



    (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 drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ACTB available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CK 666Arp2/3 inhibitor; inhibits actin polymerization[442633-00-3]
    Latrunculin AInhibitor of actin assembly and polymerization[76343-93-6]
    Cytochalasin DDisrupts actin filament function[22144-77-0]
    JasplakinolideStabilizes F-actin; promotes actin polymerization[102396-24-7]
    Thymosin beta4Potent actin polymerization regulator[77591-33-4]

    1 Novoseek inferred chemical compound relationship for ACTB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actb 86.6 6 15111311 (4), 10344733 (1), 15555571 (1)



    ACTB for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACTB gene: 
    NM_001101.3  

    Unigene Cluster for ACTB:

    Actin, beta
    Hs.520640  [show with all ESTs]
    Unigene Representative Sequence: BM802936
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464611 ENST00000331789(uc003sot.4) ENST00000425660(uc003soq.4)
    ENST00000462494(uc003sor.4) ENST00000493945 ENST00000484841 ENST00000473257
    ENST00000477812 ENST00000432588 ENST00000480301 ENST00000443528 ENST00000417101
    ENST00000414620
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate ACTB:
    hsa-miR-3673 hsa-miR-4325 hsa-miR-4328 hsa-let-7g* hsa-miR-145 hsa-let-7a-2* hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmidACTB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACTB
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    GenScript: all cDNA clones in your preferred vector: ACTB (NM_001101)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACTB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTB
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ACTB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACTB
      QuantiTect SYBR Green Assays in human, mouse, rat ACTB
      QuantiFast Probe-based Assays in human, mouse, rat ACTB

    Additional mRNA sequence: 

    AK025375.1 AK058019.1 AK098751.1 AK130062.1 AK130157.1 AK222925.1 AK223032.1 AK223055.1 
    AK225414.1 AK301372.1 AK304552.1 AK308277.1 AK309997.1 AK316361.1 BC001301.1 BC002409.2 
    BC004251.1 BC008633.1 BC009636.1 BC012854.1 BC013380.2 BC013835.1 BC014401.1 BC014861.1 
    BC016045.1 BC023204.1 BC113036.1 DQ407611.1 DQ471327.1 EF036500.1 EF095209.1 M28424.1 
    V00478.1 X00351.1 X63432.1 

    Selected DOTS entries (see all 494):

    DT.92033793  DT.100750826  DT.98084087  DT.95351154  DT.100750758  DT.98083477  DT.100640118  DT.98083827 
    DT.100648253  DT.100750378  DT.97869763  DT.92033435  DT.100644965  DT.91922077  DT.100750915  DT.87018310 
    DT.100770618  DT.91704736  DT.100750938  DT.95277326  DT.100750321  DT.91852655  DT.95277435  DT.95277537 

    Selected AceView cDNA sequences (see all 2230):

    BP373261 AW161273 AW768246 BP355091 BG056937 CR622089 BG055699 BM762932 
    BE891090 BM844370 BP372971 BG335226 BP376177 CR607692 AA358516 BP339135 
    BQ940982 BQ881645 CB124981 BM837919 BX419130 BP336981 BM459553 AI753744 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACTB (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6a · 6b · 6c ^ 7
    SP1:              -     -                                   -     -                                                         
    SP2:              -     -                 -     -           -     -                                                         
    SP3:              -     -     -     -                       -     -                                                         
    SP4:              -                                         -     -                                                         
    SP5:              -     -                                   -     -     -                                                   


    ECgene alternative splicing isoforms for ACTB

    (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)
    About This Section

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    ACTB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTTATTTG
    ACTB Expression
    About this image


    ACTB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 26) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 6 entries
             2-Cell Embryo Zygote
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 5 entries
             2-Cell Embryo Zygote
     
     Zygote (Early Embryonic Tissues)    fully expand to see all 5 entries
             2-Cell Embryo Zygote
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
    ACTB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520640
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTB (see all 149): 
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (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 eukaryotes.

    Orthologs for ACTB gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actb1 , 5 actin, beta1, 5 91.91(n)1
    100(a)1
      5 (81.80 cM)5
    114611  NM_007393.31  NP_031419.11 
     1429031155 
    chicken
    (Gallus gallus)
    Aves ACTB1 actin, beta 88.27(n)
    100(a)
      396526  NM_205518.1  NP_990849.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACTB6
    actin, beta
    95(a)
    1 ↔ 1
    GL344051.1(74996-83159)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia actb1 actin, beta 81.6(n)
    99.73(a)
      407952  NM_213719.1  NP_998884.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bactin22 bactin2 88.94(n)   57935  BC045879.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Act5C3
    Act87E1
    cytoskeleton organization and
    biogenesis structural more3
    Actin 87E1
    98(a)
    (best of 7)3
    85.12(n)1
    95.99(a)1
      5C73
    486321  NM_169525.21  NP_731812.11 
    worm
    (Caenorhabditis elegans)
    Secernentea act-23 actin 98(a)
    (best of 5)
      V(11079402-11080517)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ACT1(YFL039C)4 Actin, structural protein involved in cell polarization, more   --   6(54696-53260) 850504  NP_116614.1 
    rice
    (Oryza sativa)
    Liliopsida Os.34202 Oryza sativa RAc1 mRNA for actin 80.96(n)    AB047313.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACTB gene
    ACTG22  ACTA22  ACTRT22  ACTR1A2  ACTC12  ACTRT12  ACTG12  ACTBL22  
    ACTR1B2  ACTA12  ACTRT32  
    Selected SIMAP similar genes for ACTB using alignment to 9 protein entries:     ACTB_HUMAN (see all proteins) (see all similar genes):
    PS1TP5BP1    ACTA2    ACTG1    POTEF    ACTBL2    ACTC1
    ACT    POTEI    POTEJ    POTEKP    POTEE    POTEM
    ACTG2    ACTA1    ACTR1A    ACTR1B    ACTRT3    ACTRT1

    ACTB for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for ACTB (see all 10)
    PGOHUM00000242113 PGOHUM00000235085 PGOHUM00000234490 PGOHUM00000237624 PGOHUM00000238279


    (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 ACTB (see all 299)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0300264
    Dystonia, juvenile-onset (DYTJ)4--see VAR_0300262 R W mis40--------
    rs1048940031,2
    Cpathogenic15539452(-) CTGGCC/TGGGAC 2 R W mis10--------
    rs1153651411,2
    C--5537568(+) CTGGGA/C/GCAGGC 1 -- ds50010--------
    rs134474171,2
    C,F--5537587(-) CTGTCA/GGCCTT 1 -- ds50011Minor allele frequency- G:0.04NS 156
    rs1899375151,2
    --5537612(+) GTGAAA/GGCAAA 1 -- ds50010--------
    rs8524261,2
    C,F,A,H--5537638(-) TAGTGG/AGTGTT 1 -- ds500115Minor allele frequency- A:0.30NS EA NA WA CSA 798
    rs1488982151,2
    --5537654(+) CCACTC/TAAGGG 1 -- ds50010--------
    rs134474151,2
    C--5537666(-) GGGCAC/TGGTGT 1 -- ds50011Minor allele frequency- T:0.01NS 178
    rs772857931,2
    F--5537719(+) AACCAG/ACCCCA 1 -- ds50011Minor allele frequency- A:0.03EA 120
    rs1406438041,2
    C--5537772(+) TCCCA-/CCTCCTCA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ACTB (5566779 - 5603415 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ACTB (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436904CNV Insertion17901297
    nsv517558CNV Loss19592680
    nsv830890CNV Loss17160897
    nsv471304CNV Loss18288195
    nsv887391CNV Loss21882294
    nsv887411CNV Loss21882294
    esv25511CNV Loss19812545
    nsv887413CNV Loss21882294
    dgv7142n71CNV Loss21882294
    nsv887407CNV Loss21882294

    Human Gene Mutation Database (HGMD): ACTB
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ACTB
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 102630   
    OMIM disorders: 607371  243310  
    UniProtKB/Swiss-Prot: ACTB_HUMAN, P60709
  • Dystonia, juvenile-onset (DYTJ) [MIM:607371]: A form of dystonia with juvenile onset. Dystonia is defined
    by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Patients with
    juvenile-onset dystonia manifest progressive, generalized, dopa-unresponsive dystonia, developmental
    malformations and sensory hearing loss. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]: A rare developmental disorder characterized by the
    combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain
    malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short
    stature and microcephaly, intellectual disability, seizures, and hearing loss. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for ACTB (see all 61):    
    About MalaCards
    phaeohyphomycosis    baraitser-winter syndrome 1    juvenile-onset dystonia    baraitser-winter syndrome
    skeletal dysplasias    bardet-biedl syndrome    shigellosis    autoimmune hepatitis
    lissencephaly    wiskott-aldrich syndrome    myocarditis    microcephaly
    short stature    hypertrophic cardiomyopathy    measles    intellectual disability
    cataract    colon adenocarcinoma    muscular dystrophy    cholera

    2 diseases from the University of Copenhagen DISEASES database for ACTB:
    Cancer     Vascular disease

    ACTB for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ACTB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 3 10344733 (1), 15111311 (1), 15555571 (1)

    Genatlas disease: ACTB
    recurrent infection,photosensitivity and mild mental retardation associated to abnormalities in neutrophil
    chemotaxis,superoxide production and membrane potential response

    Genetic Association Database (GAD): ACTB
    Human Genome Epidemiology (HuGE) Navigator: ACTB (1 document)

    Export disorders for ACTB 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 ACTB gene, integrated from 10 sources (see all 389):
    (articles sorted by number of sources associating them with ACTB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser- Winter syndrome. (PubMed id 22366783)1, 2 Riviere J.B....Dobyns W.B. (Nat. Genet. 2012)
    2. Nuclear ErbB2 enhances translation and cell growth by activating transcription of ribosomal RNA genes. (PubMed id 21555369)1, 2 Li L.Y.... Hung M.C. (Cancer Res. 2011)
    3. [Establishment of a multiplex ligation-dependent SNP genotyping method and its application in the detection of genes related to chemotherapeutic drugs in breast cancer]. (PubMed id 19538885)1, 4 Tang J.H....Xu Z.Y. (Zhonghua Zhong Liu Za Zhi 2009)
    4. Molecular composition of IMP1 ribonucleoprotein granules. (PubMed id 17289661)1, 2 Joeson L.... Nielsen F.C. (Mol. Cell. Proteomics 2007)
    5. A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. (PubMed id 16685646)1, 2 Procaccio V.... Wainer B.H. (Am. J. Hum. Genet. 2006)
    6. Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. (PubMed id 15328537)1, 2 Holaska J.M.... Wilson K.L. (PLoS Biol. 2004)
    7. 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)
    8. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    9. Exportin 6: a novel nuclear export receptor that is specific for profilin.actin complexes. (PubMed id 14592989)1, 2 Stueven T.... Goerlich D. (EMBO J. 2003)
    10. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 60 HGNC: 132 AceView: ACTB Ensembl:ENSG00000075624 euGenes: HUgn60
    ECgene: ACTB Kegg: 60 H-InvDB: ACTB

    (According to HUGE)
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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 ACTB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACTB Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/actb/

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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