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ACTN3 Gene

protein-coding   GIFtS: 61
GCID: GC11P066314

Actinin, Alpha 3 (Gene/Pseudogene)

(Previous names: actinin, alpha 3)
  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
Actinin, Alpha 3 (Gene/Pseudogene)1
Actinin, Alpha 31 2
F-Actin Cross-Linking Protein2 3
Alpha-Actinin Skeletal Muscle2
alpha-actinin-32
Alpha-Actinin Skeletal Muscle Isoform 33

External Ids:    HGNC: 1651   Entrez Gene: 892   Ensembl: ENSG000002487467   OMIM: 1025745   UniProtKB: Q080433   

Export aliases for ACTN3 gene to outside databases

Previous GC identifers: GC11P068848 GC11P067996 GC11P066564 GC11P066089 GC11P066070 GC11P062643


(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 ACTN3 Gene:
This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily
expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is
involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both
coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of
this gene is associated with elite athlete status. (provided by RefSeq, Feb 2014)

GeneCards Summary for ACTN3 Gene:
ACTN3 (actinin, alpha 3 (gene/pseudogene)) is a protein-coding gene. Diseases associated with ACTN3 include dystrophinopathies, and congenital muscular dystrophy. GO annotations related to this gene include actin binding and calcium ion binding.

UniProtKB/Swiss-Prot: ACTN3_HUMAN, Q08043
Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures.
This is a bundling protein

Gene Wiki entry for ACTN3 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_018922.2  NC_000011.10  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACTN3 gene promoter:
         STAT1   Pax-5   p53   HSF1 (long)   STAT5A   STAT1alpha   POU2F1   POU2F1a   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTN3 promoter sequence
   Search Chromatin IP Primers for ACTN3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACTN3


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

Entrez Gene cytogenetic band: 11q13.1   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13.2

ACTN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTN3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P066314:  view genomic region     (about GC identifiers)

Start:
66,313,866 bp from pter      End:
66,330,800 bp from pter
Size:
16,935 bases      Orientation:
plus strand

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ACTN3_HUMAN, Q08043 (See protein sequence)
Recommended Name: Alpha-actinin-3  
Size: 901 amino acids; 103241 Da
Subunit: Homodimer; antiparallel. Also forms heterodimers with ACTN2. Interacts with MYOZ1
Sequence caution: Sequence=AP002748; Type=Miscellaneous discrepancy; Note=According to the human genome assembly
there is a stop codon in position 577 which is only found in 18% of the world population;
3 PDB 3D structures from and Proteopedia for ACTN3:
1TJT (3D)        1WKU (3D)        3LUE (3D)    
Secondary accessions: A6NP77 Q4KKV2

Explore the universe of human proteins at neXtProt for ACTN3: NX_Q08043

Explore proteomics data for ACTN3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys49
  • Modification sites at PhosphoSitePlus

  • See ACTN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001095.2  NP_001245300.2  

    ENSEMBL proteins: 
     ENSP00000422007   ENSP00000426797   ENSP00000426236  
    Reactome Protein details: Q08043

    ACTN3 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    OriGene Custom Protein Services for ACTN3
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACTN3

    ACTN3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACTN3
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    OriGene Antibodies for ACTN3
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    Novus Biologicals ACTN3 Antibodies
    Abcam antibodies for ACTN3
    Cloud-Clone Corp. Antibodies for ACTN3
    ThermoFisher Antibody for ACTN3
    LSBio Antibodies in human, mouse, rat for ACTN3

    ACTN3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ACTN3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACTN3
    Cloud-Clone Corp. CLIAs for ACTN3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR014837 EF-hand_Ca_insen
     IPR002017 Spectrin_repeat
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018159 Spectrin/alpha-actinin

    Graphical View of Domain Structure for InterPro Entry Q08043

    ProtoNet protein and cluster: Q08043

    3 Blocks protein domains:
    IPB001589 Actin-binding
    IPB001715 Calponin-like actin-binding
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: ACTN3_HUMAN, Q08043
    Similarity: Belongs to the alpha-actinin family
    Similarity: Contains 1 actin-binding domain
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 4 spectrin repeats


    ACTN3 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: ACTN3_HUMAN, Q08043
    Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures.
    This is a bundling protein

         Genatlas biochemistry entry for ACTN3:
    actinin,alpha 3,actin filament cross-linking,calcium insensitive,expressed in skeletal muscle,type 2 (fast) fibres

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005178integrin binding TAS8104223
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI11171996
    GO:0008307structural constituent of muscle TAS1339456
         
    ACTN3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACTN3:
     Increased G1 DNA content 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Actn3):
     homeostasis/metabolism  muscle 

    ACTN3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Actn3tm1Knno for ACTN3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACTN3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACTN3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACTN3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACTN3

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ACTN3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ACTN3
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACTN3
    Predesigned siRNA for gene silencing in human, mouse, rat ACTN3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACTN3

    Clone
    Products:
         
    OriGene clones in human, mouse for ACTN3 (see all 7)
    OriGene ORF clones in mouse, rat for ACTN3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACTN3 (NM_001104)
    Sino Biological Human cDNA Clone for ACTN3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACTN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTN3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ACTN3
    Browse ESI BIO Cell Lines and PureStem Progenitors for ACTN3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005884actin filament TAS1339456
    GO:0005925focal adhesion IMP16807302
    GO:0031143pseudopodium TAS1629252

    ACTN3 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 ACTN3 About   (see all 20)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82
    2Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Arrhythmogenic right ventricular cardiomyopathy0.54
    3Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    4Cell adhesion Integrin mediated cell adhesion and migration
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Cytoskeleton remodeling Fibronectin binding integrins in cell motility0.32
    Cytoskeleton remodeling Integrin outside in signaling0.37
    5Focal adhesion
    Focal adhesion0.65

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ACTN3 (see all 6)
        Sertoli-Sertoli Cell Junction Dynamics
    ILK Signaling
    Remodeling of Adherens Junctions
    Epithelial Tight Junctions
    Germ Cell-Sertoli Cell Junction Dynamics

    Selected GeneGo (Thomson Reuters) Pathways for ACTN3 (see all 6)
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Endothelial cell contacts by junctional mechanisms
    Inhibitory action of Lipoxins on neutrophil migration

    2 BioSystems Pathways for ACTN3
        Striated Muscle Contraction
    Arrhythmogenic right ventricular cardiomyopathy


    2 Reactome Pathways for ACTN3
        Nephrin interactions
    Striated Muscle Contraction


    Selected Kegg Pathways  (Kegg details for ACTN3) (see all 9):
        Focal adhesion
    Adherens junction
    Tight junction
    Leukocyte transendothelial migration
    Regulation of actin cytoskeleton


    ACTN3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTN3: 
              Adherens Junctions in human mouse rat
              Tight Junctions in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Focal Adhesions in human mouse rat
              Cell Motility in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACTN3

    Selected Interacting proteins for ACTN3 (Q080432, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN2P356092, 3MINT-7899812 I2D: score=2 
    MYPNQ86TC93I2D: score=2 
    ACTN4O437073I2D: score=1 
    ADORA2AP292743I2D: score=1 
    ESR2Q927313I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030049muscle filament sliding TAS--
    GO:0042981regulation of apoptotic process NAS16807302
    GO:0048041focal adhesion assembly IMP16807302

    ACTN3 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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACTN3

    1 Novoseek inferred chemical compound relationship for ACTN3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 2 1339456 (1)



    ACTN3 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,
    Conferences by KenesGroup, 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 ACTN3 gene (2 alternative transcripts): 
    NM_001104.3  NM_001258371.2  

    Unigene Cluster for ACTN3:

    Actinin, alpha 3
    Hs.654432  [show with all ESTs]
    Unigene Representative Sequence: AK125851
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502692 ENST00000513398(uc021qlz.1 uc021qma.1) ENST00000511191

    miRNA
    Products:
         
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ACTN3
    Predesigned siRNA for gene silencing in human, mouse, rat ACTN3
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACTN3 (NM_001104)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACTN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTN3
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACTN3
      QuantiTect SYBR Green Assays in human, mouse, rat ACTN3
      QuantiFast Probe-based Assays in human, mouse, rat ACTN3

    Additional mRNA sequence: 

    AK125851.1 AK303044.1 AK313556.1 BC096323.2 BC099647.3 BC099648.1 BC099649.3 M86407.1 
    NR_047663.1 

    6 DOTS entries:

    DT.309857  DT.120710797  DT.91926044  DT.120710710  DT.40245906  DT.75155085 

    Selected AceView cDNA sequences (see all 33):

    F32349 AL598669 M86407 F21130 F18712 AJ346025 AL598649 AI224547 
    AJ346065 BQ575174 AA196115 AA196000 AJ571886 T29827 F33937 AK125851 
    NM_001104 F17757 CD610742 CD610744 BX117834 CD610741 CD610746 CD610740 

    GeneLoc Exon Structure


    (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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    ACTN3 expression in normal human tissues (normalized intensities)      ACTN3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACTN3 Expression
    About this image


    ACTN3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Renal Vesicle
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    ACTN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTN3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654432

    UniProtKB/Swiss-Prot: ACTN3_HUMAN, Q08043
    Tissue specificity: Expressed only in a subset of type 2 skeletal muscle fibers

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTN3: 
              Adherens Junctions in human mouse rat
              Tight Junctions in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Focal Adhesions in human mouse rat
              Cell Motility in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACTN3
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    QuantiFast Probe-based Assays in human, mouse, rat ACTN3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN3

    (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 chordates.

    Orthologs for ACTN3 gene from 2 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actn35 actinin alpha 3   --   19 (4.12 cM) 4861223 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.50662 Danio rerio alpha-actinin mRNA, complete cds 80.35(n)    AF524840.1 


    ENSEMBL Gene Tree for ACTN3 (if available)
    TreeFam Gene Tree for ACTN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACTN3 gene
    16 SIMAP similar genes for ACTN3 using alignment to 4 protein entries:     ACTN3_HUMAN (see all proteins):
    ACTN2    ACTN4    ACTN1    MACF1    HSpTB1    DMD
    ACF7    SPTBN2    SPTBN1    CALM1    CALM2    CALM3
    SPTAN1    SPTBN4    SYNE2    CALML3

    ACTN3 for paralogs           About GeneDecksing



    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ACTN3_HUMAN, Q08043: About 18% of the world population lack a functional ACTN3 due to a stop codon polymorphism at
    position 577. The absence of a functional ACTN3 expression is not correlated with a disease state [MIM:102574]


    Selected SNPs for ACTN3 (see all 530)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18157391,2
    C,F,A,Hpathogenic166248395(+) CTGACC/TGAGAG 5 R * stg125Minor allele frequency- T:0.36MN NS EA NA WA CSA EU 3037
    rs108961271,2
    C--62649670(+) AATACA/CAAAAA 3 -- int13Minor allele frequency- C:0.00NA WA 6
    rs106694171,2
    C--62656410(+) ttagt-/TA    
       T
    /TTA
    aaatg
    5 -- cds1 int10--------
    rs1852629161,2
    --66232229(+) CCTTCC/TATCTG 1 -- us2k10--------
    rs771329211,2
    F--66232487(+) TAATTA/TAAAAA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1404243501,2
    --66232706(+) ATGTTA/GTGATT 3 -- us2k10--------
    rs1908041671,2
    --66232826(+) TGAGAA/CGGAGG 3 -- us2k10--------
    rs1404033931,2
    C--66232975(+) ACTAA-/TTTTTT 3 -- us2k10--------
    rs744687671,2
    C,F--66233101(+) CGCACC/GCGGCC 3 -- us2k12Minor allele frequency- G:0.08WA 120
    rs112275271,2
    C,F,A,H--66233323(+) CGAGTA/GAATAA 3 -- us2k119Minor allele frequency- G:0.23NS EA NA WA CSA 2344

    HapMap Linkage Disequilibrium report for ACTN3 (66313866 - 66330800 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ACTN3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744639CNV Deletion23290073
    nsv897788CNV Loss21882294
    nsv897787CNV Loss21882294
    nsv522277CNV Loss19592680
    dgv1187n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): ACTN3
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ACTN3
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTN3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 102574    OMIM disorders: --

    11 diseases for ACTN3:    About MalaCards
    dystrophinopathies    congenital muscular dystrophy    muscular dystrophy    myopathy
    systemic lupus erythematosus    lupus erythematosus    neuroblastoma    bipolar disorder
    endotheliitis    cervicitis    alzheimer's disease


    ACTN3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ACTN3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophies 31.6 3 9309713 (1), 8887951 (1)

    Genetic Association Database (GAD): ACTN3
    Human Genome Epidemiology (HuGE) Navigator: ACTN3 (51 documents)

    Export disorders for ACTN3 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 ACTN3 gene, integrated from 10 sources (see all 122):
    (articles sorted by number of sources associating them with ACTN3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of two human skeletal muscle alpha- actinin genes located on chromosomes 1 and 11. (PubMed id 1339456)1, 2, 3, 9 Beggs A.H....Kunkel L.M. (J. Biol. Chem. 1992)
    2. Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. (PubMed id 19150855)1, 4, 9 Norman B....Tesch P.A. (J. Appl. Physiol. 2009)
    3. alpha-actinin-3 and performance. (PubMed id 19696509)1, 4, 9 Yang N....North K. (Med Sport Sci 2009)
    4. Differential expression of the actin-binding proteins, alpha-actinin- 2 and -3, in different species: implications for the evolution of functional redundancy. (PubMed id 11440986)1, 2, 9 Mills M.... North K.N. (Hum. Mol. Genet. 2001)
    5. ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. (PubMed id 15718405)1, 4, 9 Clarkson P.M....Hoffman E.P. (J. Appl. Physiol. 2005)
    6. ACTN3 genotype is associated with human elite athletic performance. (PubMed id 12879365)1, 4, 9 Yang N....North K. (Am. J. Hum. Genet. 2003)
    7. ACTN3 and ACE genotypes in elite Jamaican and US sprinters. (PubMed id 20010124)1, 4, 9 Scott R.A....Pitsiladis Y.P. (Med Sci Sports Exerc 2010)
    8. Endurance performance: genes or gene combinations? (PubMed id 18651373)1, 4, 9 GA^mez-Gallego F....Lucia A. (Int J Sports Med 2009)
    9. Association of the ACTN3 R577X polymorphism with power athlete status in Russians. (PubMed id 18470530)1, 4, 9 Druzhevskaya A.M....Rogozkin V.A. (Eur. J. Appl. Physiol. 2008)
    10. ACTN3 and MLCK genotype associations with exertional muscle damage. (PubMed id 15817725)1, 4, 9 Clarkson P.M....Devaney J.M. (J. Appl. Physiol. 2005)

    (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: 89 HGNC: 165 AceView: ACTN3 Ensembl:ENSG00000248746 euGenes: HUgn89
    ECgene: ACTN3 Kegg: 89 H-InvDB: ACTN3

    (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 ACTN3 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 ACTN3 gene:
    Search GeneIP for patents involving ACTN3

    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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