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ACTN2 Gene

protein-coding   GIFtS: 70
GCID: GC01P236849

Actinin, Alpha 2

  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 21 2
F-Actin Cross-Linking Protein2 3
CMD1AA2 5
Alpha-Actinin Skeletal Muscle2
alpha-actinin-22
Alpha-Actinin Skeletal Muscle Isoform 23

External Ids:    HGNC: 1641   Entrez Gene: 882   Ensembl: ENSG000000775227   OMIM: 1025735   UniProtKB: P356093   

Export aliases for ACTN2 gene to outside databases

Previous GC identifers: GC01P234982 GC01P232303 GC01P233146 GC01P233890 GC01P233175 GC01P234916 GC01P207337


(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 ACTN2 Gene:
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins,
including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple
roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles
and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal,
cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help
anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is
expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, May 2013)

GeneCards Summary for ACTN2 Gene:
ACTN2 (actinin, alpha 2) is a protein-coding gene. Diseases associated with ACTN2 include actn2-related familial hypertrophic cardiomyopathy, and cardiomyopathy, dilated, 1aa. GO annotations related to this gene include protein dimerization activity and calcium ion binding. An important paralog of this gene is ACTN4.

UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609
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 ACTN2 (Actinin, alpha 2) 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_000001.11  NC_018912.2  NT_167186.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACTN2 gene promoter:
         AhR   TBP   SRF   SRF (504 AA)   ATF-2   Nkx2-5   CRE-BP1   IRF-2   STAT3   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTN2 promoter sequence
   Search Chromatin IP Primers for ACTN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACTN2


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

Entrez Gene cytogenetic band: 1q42-q43   Ensembl cytogenetic band:  1q43   HGNC cytogenetic band: 1q42-q43

ACTN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTN2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P236849:  view genomic region     (about GC identifiers)

Start:
236,849,754 bp from pter      End:
236,927,931 bp from pter
Size:
78,178 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609 (See protein sequence)
Recommended Name: Alpha-actinin-2  
Size: 894 amino acids; 103854 Da
Subunit: Homodimer; antiparallel. Also forms heterodimers with ACTN3. Interacts with ADAM12, MYOZ1, MYOZ2 and
MYOZ3. Interacts via its C-terminal region with the LDB3 PDZ domain. Interacts with XIRP2. Interacts with DST
isoform 1 (via N-terminus). Interacts with PARVB
3 PDB 3D structures from and Proteopedia for ACTN2:
1H8B (3D)        1HCI (3D)        1QUU (3D)    
Secondary accessions: B1ANE4 Q86TF4 Q86TI8

Explore the universe of human proteins at neXtProt for ACTN2: NX_P35609

Explore proteomics data for ACTN2 at MOPED

Post-translational modifications: 

  • Ubiquitinated by FBXL22, leading to proteasomal degradation1
  • Ubiquitination2 at Lys42, Lys338
  • Modification sites at PhosphoSitePlus

  • See ACTN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001094.1  NP_001265272.1  NP_001265273.1  

    ENSEMBL proteins: 
     ENSP00000355537   ENSP00000443495   ENSP00000438384  
    Reactome Protein details: P35609

    ACTN2 Human Recombinant Protein Products:

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    ACTN2 Assay Products:

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    Cloud-Clone Corp. CLIAs for ACTN2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    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 P35609

    ProtoNet protein and cluster: P35609

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


    UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609
    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


    ACTN2 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: ACTN2_HUMAN, P35609
    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 ACTN2:
    actinin,alpha 2,actin filament cross-linking,calcium insensitive,expressed in skeletal and cardiac
    muscle,interacting with actin and the carboxyterminal region of dystrophin

         Gene Ontology (GO): Selected molecular function terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ----
    GO:0005178integrin binding TAS8104223
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI10427098
    GO:0008092cytoskeletal protein binding IDA10427098
         
    ACTN2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ACTN2:
     Cell division defect  Decreased viability of wild-ty  Increased G2M DNA content, inc 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACTN2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACTN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACTN2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACTN2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACTN2:
    hsa-mir-7-5p (MIRT025892)

    Block miRNA regulation of human, mouse, rat ACTN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACTN2 (see all 19):
    hsa-miR-3128 hsa-miR-3164 hsa-miR-100* hsa-miR-137 hsa-miR-4267 hsa-miR-9 hsa-miR-4330 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidACTN2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACTN2
    Predesigned siRNA for gene silencing in human, mouse, rat ACTN2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACTN2

    Clone
    Products:
         
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    OriGene ORF clones in mouse, rat for ACTN2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ACTN2 (NM_001103)
    Sino Biological Human cDNA Clone for ACTN2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACTN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACTN2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTN2


    (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
    ACTN2_HUMAN, P35609: Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines
    of skeletal muscle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    extracellular4
    nucleus2
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton NAS12809483
    GO:0005884actin filament TAS1339456
    GO:0005925focal adhesion IMP16807302

    ACTN2 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 ACTN2 About   (see all 24)  
    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
    3Post NMDA receptor activation events
    Post NMDA receptor activation events0.90
    Ras activation uopn Ca2+ infux through NMDA receptor0.00
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.90
    Unblocking of NMDA receptor, glutamate binding and activation0.00
    CREB phosphorylation through the activation of Ras0.78
    CREB phosphorylation through the activation of CaMKII0.00
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    5Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    Germ Cell-Sertoli Cell Junction Dynamics0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ACTN2 (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 ACTN2 (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 ACTN2
        Striated Muscle Contraction
    Arrhythmogenic right ventricular cardiomyopathy


    Selected Reactome Pathways for ACTN2 (see all 6)
        Nephrin interactions
    Ras activation uopn Ca2+ infux through NMDA receptor
    Unblocking of NMDA receptor, glutamate binding and activation
    Platelet degranulation
    CREB phosphorylation through the activation of CaMKII


    Selected Kegg Pathways  (Kegg details for ACTN2) (see all 9):
        Focal adhesion
    Adherens junction
    Tight junction
    Leukocyte transendothelial migration
    Regulation of actin cytoskeleton


    ACTN2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTN2: 
              Adherens Junctions in human mouse rat
              Tight Junctions in human mouse rat
              Focal Adhesions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACTN2

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

    Selected Interacting proteins for ACTN2 (P356091, 2, 3 ENSP000003555374) via UniProtKB, MINT, STRING, and/or I2D (see all 363)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNA5P224601, 2, 3, ENSP000002523214EBI-77797,EBI-6426121 MINT-17650 MINT-17651 I2D: score=3 STRING: ENSP00000252321
    TTNQ8WZ421, 2, 3EBI-77797,EBI-681210 MINT-2882567 MINT-7899812 I2D: score=2 
    MYOZ1Q9NP982, 3, ENSP000003522724MINT-49879 MINT-49880 I2D: score=4 STRING: ENSP00000352272
    KCNA4P224592, 3, ENSP000003285114MINT-14873 MINT-14874 I2D: score=2 STRING: ENSP00000328511
    DISC1Q9NRI51, 3, ENSP000003555964EBI-77797,EBI-529989 I2D: score=3 STRING: ENSP00000355596
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    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0006936muscle contraction ----
    GO:0007155cell adhesion TAS10656685
    GO:0007268synaptic transmission TAS--
    GO:0007596blood coagulation TAS--

    ACTN2 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 ACTN2

    3 Novoseek inferred chemical compound relationships for ACTN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nmda 52.1 10 16510730 (4), 9454832 (1), 9502803 (1), 10812072 (1)
    glutamate 25.8 1 10786995 (1)
    calcium 5.38 3 1339456 (1), 18287503 (1)



    ACTN2 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 ACTN2 gene (3 alternative transcripts): 
    NM_001103.3  NM_001278343.1  NM_001278344.1  

    Unigene Cluster for ACTN2:

    Actinin, alpha 2
    Hs.498178  [show with all ESTs]
    Unigene Representative Sequence: NM_001103
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366578(uc001hyf.2 uc001hyg.2 uc009xgi.1 uc010pxu.1)
    ENST00000492634 ENST00000494762 ENST00000492101 ENST00000461367 ENST00000542672
    ENST00000546208
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ACTN2 (see all 19):
    hsa-miR-3128 hsa-miR-3164 hsa-miR-100* hsa-miR-137 hsa-miR-4267 hsa-miR-9 hsa-miR-4330 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidACTN2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ACTN2 (NM_001103)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ACTN2
      QuantiFast Probe-based Assays in human, mouse, rat ACTN2

    Additional mRNA sequence: 

    AB209521.1 AK294906.1 AK297469.1 AK297618.1 AK297628.1 AK297886.1 AK315250.1 BC047901.2 
    BC051770.1 M86406.1 

    15 DOTS entries:

    DT.118315  DT.100789449  DT.410595  DT.95258860  DT.100789450  DT.75146933  DT.121411996  DT.121412007 
    DT.100680261  DT.100789445  DT.102830077  DT.121411999  DT.121412003  DT.121412018  DT.100789446 

    Selected AceView cDNA sequences (see all 202):

    CR593118 C03956 AI914401 N88024 CF552175 AJ707536 N91925 F26846 
    AI400613 AI004936 N85561 BM721312 AA347854 AA582234 AI399752 F30704 
    BC051770 AA346225 AI588922 BC047901 AI982935 AI305188 AA968547 AA346088 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACTN2 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ·
    SP1:        -                                                                 -                                                           -                     
    SP2:        -                                               -           -     -                                                           -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                      -     -     -     -   
    SP5:                                                                                                                                                            

    ExUns: 20c ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c
    SP1:                          -                     
    SP2:                          -                     
    SP3:                          -                     
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for ACTN2

    (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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    ACTN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTAGAGAGA
    ACTN2 Expression
    About this image


    ACTN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 9 entries
             Cardiomyocytes Left Ventricle
             Beating embryoid bodies
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 18 entries
             Multinuclear Myocyte Extraocular Muscles
             Skeletal myocytes
     
     NULL (Cardiovascular System)    fully expand to see all 3 entries
             Cardiomyocyte-like cells
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    ACTN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.498178

    UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609
    Tissue specificity: Expressed in both skeletal and cardiac muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACTN2: 
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              Focal Adhesions 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 animals.

    Orthologs for ACTN2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actn21 , 5 actinin alpha 21, 5 91.09(n)1
    99.22(a)1
      13 (4.54 cM)5
    114721  NM_033268.41  NP_150371.41 
     122694265 
    chicken
    (Gallus gallus)
    Aves ACTN21 actinin, alpha 2 82.81(n)
    95.19(a)
      396263  NM_205323.1  NP_990654.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACTN26
    actinin, alpha 2
    92(a)
    1 ↔ 1
    1(218840061-218915535)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.157422 Transcribed sequence with moderate similarity to protein pirFAHUA3 (H.sapiens) FAHUA3 alpha-actinin 3 - human less 79.96(n)    BX703558.1 
    zebrafish
    (Danio rerio)
    Actinopterygii actn21 actinin, alpha 2 76.14(n)
    85.01(a)
      641575  NM_001037573.1  NP_001032662.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Actn3 cytoskeletal anchoring actin binding 66(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea atn-16
    Protein ATN-1, isoform a
    60(a)
    1 ↔ 1
    V(12478413-12484452) WBGene00000228


    ENSEMBL Gene Tree for ACTN2 (if available)
    TreeFam Gene Tree for ACTN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACTN2 gene
    ACTN42  SPTBN22  SPTA12  SYNE22  SPTBN42  SPTB2  SPTBN12  SPTBN52  
    SPTAN12  SYNE12  ACTN12  CLMN2  
    17 SIMAP similar genes for ACTN2 using alignment to 3 protein entries:     ACTN2_HUMAN (see all proteins):
    ACTN3    ACTN4    ACTN1    MACF1    HSpTB1    DMD
    CALML3    CALM2    ACF7    CALM1    SPTBN1    CALM3
    SPNB4    SPTBN2    SPTBN4    SPTB    SYNE2

    ACTN2 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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    Selected SNPs for ACTN2 (see all 2172)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214345251,2,,4
    C,FCardiomyopathy, dilated 1AA (CMD1AA)4 pathogenic1236849999(+) CGTGCA/GGTACA 2 Q R mis12Minor allele frequency- G:0.00NA EU 5635
    rs349754931,2
    C,Fnon-pathogenic1236918483(+) CACACG/AAACTA 2 /T syn17Minor allele frequency- A:0.03NA WA EU 5989
    rs1939226341,2
    Cprobable-non-pathogenic1236881196(+) AAAGCC/TGGCAC 2 A syn10--------
    rs1939226351,2
    Cprobable-pathogenic1236918491(+) CTACAC/TGATGG 2 T M mis10--------
    rs780624311,2
    C,F--236847871(+) TGTGCG/AGTGGA 1 -- us2k13Minor allele frequency- A:0.04CSA WA NA 240
    rs1844923321,2
    C--236847911(+) GTGGAC/TGAGAC 1 -- us2k10--------
    rs1409044321,2
    C--236847927(+) CCCTGC/TGTTTG 1 -- us2k10--------
    rs1885023881,2
    --236847984(+) CGGGGC/TGTGGT 1 -- us2k10--------
    rs1144609211,2
    F--236848006(+) GTAATC/TCCCAC 1 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1497414681,2
    --236848171(+) GAATCA/GCTTGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACTN2 (236849754 - 236927931 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ACTN2 (see all 32):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820994CNV Deletion20802225
    esv2741411CNV Deletion23290073
    esv1676660CNV Deletion17803354
    esv2649810CNV Deletion19546169
    esv1209958CNV Deletion17803354
    esv1082367CNV Deletion17803354
    esv2725507CNV Deletion23290073
    esv2725518CNV Deletion23290073
    esv2725573CNV Deletion23290073
    esv2725540CNV Deletion23290073

    Human Gene Mutation Database (HGMD): ACTN2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACTN2
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTN2

    (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: 102573   
    OMIM disorders: 612158  
    UniProtKB/Swiss-Prot: ACTN2_HUMAN, P35609
  • Cardiomyopathy, dilated 1AA (CMD1AA) [MIM:612158]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ACTN2 (see all 33):    
    About MalaCards
    actn2-related familial hypertrophic cardiomyopathy    cardiomyopathy, dilated, 1aa    actn2-related dilated cardiomyopathy    endocardial fibroelastosis
    infantile onset spinocerebellar ataxia    cardiomyopathy, dilated, 1w    skeletal muscle regeneration    familial hypertrophic cardiomyopathy
    hypertrophic cardiomyopathy    neuromuscular disease    congenital muscular dystrophy    dilated cardiomyopathy
    spinocerebellar ataxia    muscular dystrophy    congestive heart failure    ataxia
    papillary thyroid carcinoma    intrahepatic cholangiocarcinoma    cholangiocarcinoma    herpes simplex

    2 diseases from the University of Copenhagen DISEASES database for ACTN2:
    Endocardial fibroelastosis     Infantile onset spinocerebellar ataxia

    ACTN2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for ACTN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuromuscular diseases 32.3 1 8887951 (1)
    muscular dystrophies 32 1 11699871 (1)

    GeneTests: ACTN2
    GeneReviews: ACTN2
    Genetic Association Database (GAD): ACTN2
    Human Genome Epidemiology (HuGE) Navigator: ACTN2 (10 documents)

    Export disorders for ACTN2 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 ACTN2 gene, integrated from 10 sources (see all 140):
    (articles sorted by number of sources associating them with ACTN2)
        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. Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle. (PubMed id 10548523)1, 2, 9 Tiso N....Danieli G.A. (Biochem. Biophys. Res. Commun. 1999)
    3. alpha-actinin-3 and performance. (PubMed id 19696509)1, 4, 9 Yang N....North K. (Med Sport Sci 2009)
    4. ZASP: a new Z-band alternatively spliced PDZ-motif protein. (PubMed id 10427098)1, 2, 9 Faulkner G.... Lanfranchi G. (J. Cell Biol. 1999)
    5. F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo. (PubMed id 22972877)1, 2 Spaich S.... Frey N. (Circ. Res. 2012)
    6. A novel custom resequencing array for dilated cardiomyopathy. (PubMed id 20474083)1, 4 Zimmerman R.S....Funke B.H. (Genet. Med. 2010)
    7. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    8. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (J Psychiatr Res 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. BPAG1 isoform-b: complex distribution pattern in striated and heart muscle and association with plectin and alpha-actinin. (PubMed id 19932097)1, 2 Steiner-Champliaud M.F....Borradori L. (Exp. Cell Res. 2010)

    (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: 88 HGNC: 164 AceView: ACTN2 Ensembl:ENSG00000077522 euGenes: HUgn88
    ECgene: ACTN2 Kegg: 88 H-InvDB: ACTN2

    (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 ACTN2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACTN2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACTN2 gene:
    Search GeneIP for patents involving ACTN2

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



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