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ACTG2 Gene

protein-coding   GIFtS: 64
GCID: GC02P074119

Actin, Gamma 2, Smooth Muscle, Enteric


(Previous symbols: ACTL3, ACTA3)
  See ACTG2-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, Gamma 2, Smooth Muscle, Enteric1 2     Actin-Like Protein2
ACTA31 2 3 5     Alpha-Actin 32
ACTL31 2 3     alpha-actin-32
Smooth Muscle Gamma-Actin2 3     gamma-2-actin2
ACTSG2 3     Smooth Muscle Gamma Actin2
ACT2     Alpha-actin-33
ACTE2     Gamma-2-actin3
Actin, Gamma-Enteric Smooth Muscle2     

External Ids:    HGNC: 1451   Entrez Gene: 722   Ensembl: ENSG000001630177   OMIM: 1025455   UniProtKB: P632673   

Export aliases for ACTG2 gene to outside databases

Previous GC identifers: GC02P074257 GC02P074077 GC02P074094 GC02P074031 GC02P073854


(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 ACTG2 Gene:
Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of
the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins
are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins
co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This
gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in
multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related
actins, the mature protein of this gene is formed by removal of two N-terminal peptides.(provided by RefSeq, Dec
2010)

GeneCards Summary for ACTG2 Gene:
ACTG2 (actin, gamma 2, smooth muscle, enteric) is a protein-coding gene. Diseases associated with ACTG2 include megacystis microcolon intestinal hypoperistalsis syndrome, and visceral myopathy. An important paralog of this gene is ACTA2.

UniProtKB/Swiss-Prot: ACTH_HUMAN, P63267
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 ACTG2 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 ACTG2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACTG2 gene promoter:
         USF1   Brachyury   FOXO3   USF-1:USF-2   Roaz   FOXO3b   Zic1   USF-1   FOXO3a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACTG2 promoter sequence
   Search Chromatin IP Primers for ACTG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACTG2


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

Entrez Gene cytogenetic band: 2p13.1   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p13.1

ACTG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTG2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P074119:  view genomic region     (about GC identifiers)

Start:
74,119,441 bp from pter      End:
74,146,992 bp from pter
Size:
27,552 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ACTH_HUMAN, P63267 (See protein sequence)
Recommended Name: Actin, gamma-enteric smooth muscle precursor  
Size: 376 amino acids; 41877 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
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
Secondary accessions: B2R7E7 B4E315 D6W5H8 E9PG30 P12718 Q504R1 Q6FI22
Alternative splicing: 2 isoforms:  P63267-1   P63267-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACTG2: NX_P63267

Explore proteomics data for ACTG2 at MOPED

Post-translational modifications: 

  • Oxidation of Met-45 and Met-48 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-85 (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 migration (By similarity)1
  • Ubiquitination2 at Lys51, Lys62, Lys69, Lys114, Lys192, Lys214, Lys292, Lys316, Lys327, Lys329
  • Modification sites at PhosphoSitePlus

  • See ACTG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001186822.1  NP_001606.1  

    ENSEMBL proteins: 
     ENSP00000410706   ENSP00000392894   ENSP00000386929   ENSP00000295137   ENSP00000387182  
     ENSP00000410020   ENSP00000386857  
    Reactome Protein details: P63267

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ACTG2 

     
    antibodies-online proteins for ACTG2 (11 products) 

     
    antibodies-online peptides for ACTG2

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    antibodies-online kits for ACTG2 (23 products) 


    (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 P63267

    ProtoNet protein and cluster: P63267

    UniProtKB/Swiss-Prot: ACTH_HUMAN, P63267
    Similarity: Belongs to the actin family


    Find genes that share domains with ACTG2           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: ACTH_HUMAN, P63267
    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 ACTG2:
    actin,gamma 2,smooth muscle,enteric,major constituent of thin filaments

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with ACTG2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ACTG2

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    eBioscience FlowRNA Probe Sets ( VA1-10437) for ACTG2 


    (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
    ACTH_HUMAN, P63267: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0071944cell periphery IEA--

    Find genes that share ontologies with ACTG2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACTG2 About   (see all 38)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin 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
    2Development Slit Robo signaling
    Development Slit Robo signaling0.92
    Cytoskeleton remodeling Slit Robo signaling0.92
    3Actin Nucleation by ARP-WASP Complex
    Actin Nucleation and Branching0.66
    CDC42 Pathway0.41
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    4Integrin Pathway
    FAK1 Signaling0.67
    Transendothelial Migration of Leukocytes0.38
    Integrin Pathway0.67
    5PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56


    Find genes that share SuperPaths with ACTG2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ACTG2 (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 ACTG2
        Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for ACTG2 (see all 8)
        Cytoskeleton remodeling RalA regulation pathway
    Development Slit-Robo signaling
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle


    1 Reactome Pathway for ACTG2
        Smooth Muscle Contraction


    1 Kegg Pathway  (Kegg details for ACTG2):
        Vascular smooth muscle contraction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACTG2
    Interactions:

        GeneGlobe Interaction Network for ACTG2

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

    Selected Interacting proteins for ACTG2 (P632672, 3 ENSP000002951374) via UniProtKB, MINT, STRING, and/or I2D (see all 179)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629932, 3, ENSP000003390074MINT-61553 I2D: score=2 STRING: ENSP00000339007
    ENSG00000228321P013753, ENSP000003928584I2D: score=1 STRING: ENSP00000392858
    TNFP013753, ENSP000003986984I2D: score=1 STRING: ENSP00000398698
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS--

    Find genes that share ontologies with ACTG2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Compounds for ACTG2 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]



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACTG2 gene (2 alternative transcripts): 
    NM_001199893.1  NM_001615.3  

    Unigene Cluster for ACTG2:

    Actin, gamma 2, smooth muscle, enteric
    Hs.516105  [show with all ESTs]
    Unigene Representative Sequence: BF965163
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000438902(uc002sjw.3 uc010yrn.2) ENST00000473016 ENST00000429756
    ENST00000409731 ENST00000345517 ENST00000409918(uc010fex.1) ENST00000442912
    ENST00000468543 ENST00000409624(uc010fey.3)
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    Additional mRNA sequence: 

    AK124338.1 AK129589.1 AK304523.1 AK310215.1 AK311011.1 AK311286.1 AK312955.1 BC012617.1 
    BC094877.1 CR536515.1 CR541794.1 X16940.1 

    Selected DOTS entries (see all 30):

    DT.40292926  DT.97820593  DT.100785627  DT.92473287  DT.91665702  DT.100785625  DT.100661930  DT.101963080 
    DT.91805461  DT.91692425  DT.419039  DT.120966040  DT.120966054  DT.75100133  DT.120966064  DT.91659413 
    DT.99982573  DT.100675415  DT.120966013  DT.120966025  DT.120966039  DT.120966062  DT.91988663  DT.92473434 

    Selected AceView cDNA sequences (see all 382):

    AI582668 BM990208 AA548896 BM989495 BU687288 CA438140 AI129302 AA947220 
    BP343433 BP343604 X16940 BM997661 AA588887 AA541720 AW516093 AA526576 
    AI872017 AW883137 AI204012 AI559267 BP341138 BQ017392 BM678679 AI459948 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACTG2 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12
    SP1:                                -                 -           -                                             
    SP2:              -                 -                 -           -                                             
    SP3:                                -     -     -     -           -                                             
    SP4:              -                 -           -     -     -     -     -     -                                 
    SP5:              -                       -     -     -           -                                             


    ECgene alternative splicing isoforms for ACTG2

    (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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    ACTG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACTG2 Expression
    About this image


    ACTG2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 22) fully expand
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 8 entries
             Vascular Smooth Muscle Cells Coronary Capillary Plexus
             Neo-Urinary Conduit
             Human Tracheal Smooth Muscle Cells (HTSMC)   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 4 entries
             Umbilical cord-derived mesenchymal stem cells (family)
             Human Umbillical Artery Smooth Muscle Cells (HUASMC)   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Human Tracheal Smooth Muscle Cells (HTSMC)   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 5 entries
             Line H9 (Naive)
     
     Heart (Cardiovascular System)
             Vascular Smooth Muscle Cells Coronary Capillary Plexus
    ACTG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACTG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516105
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    In Situ
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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 ACTG2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Actg21 , 5 actin, gamma 2, smooth muscle, enteric1, 5 92.82(n)1
    100(a)1
      6 (35.94 cM)5
    114681  NM_009610.21  NP_033740.21 
     835129055 
    chicken
    (Gallus gallus)
    Aves ACTG21 actin, gamma 2, smooth muscle, enteric 86.08(n)
    100(a)
      396084  NM_205172.1  NP_990503.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACTG26
    actin, gamma 2, smooth muscle, enteric
    100(a)
    1 ↔ 1
    GL343608.1(290062-319011)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia acta21 actin, alpha 2, smooth muscle, aorta 82.62(n)
    99.73(a)
      496696  NM_001011250.1  NP_001011250.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acta21 actin, alpha 2, smooth muscle, aorta 84.22(n)
    98.94(a)
      322509  NM_212620.1  NP_997785.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Act5C3
    Act79B1
    cytoskeleton organization and
    biogenesis structural more3
    Actin 79B1
    94(a)
    (best of 7)3
    80.85(n)1
    92.29(a)1
      5C73
    404441  NM_001275271.11  NP_001262200.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACT41 ACT4 72.12(n)
    87.13(a)
      836056  NM_001085300.1  NP_001078769.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g05100001 Os10g0510000 75.69(n)
    87.4(a)
      4349087  NM_001071569.1  NP_001065034.1 


    ENSEMBL Gene Tree for ACTG2 (if available)
    TreeFam Gene Tree for ACTG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACTG2 gene
    ACTA22  ACTRT22  ACTR1A2  ACTB2  ACTC12  ACTRT12  ACTG12  ACTBL22  
    ACTR1B2  ACTA12  ACTRT32  
    Selected SIMAP similar genes for ACTG2 using alignment to 5 protein entries:     ACTH_HUMAN (see all proteins) (see all similar genes):
    ACTA2    POTEF    ACTC1    ACTB    POTEE    POTEI
    POTEJ    PS1TP5BP1    POTEKP    ACTG1    ACT    ACTBL2
    POTEM    ACTA1    ACTRT3    ACTR1A    ACTR1B    ACTRT1

    Find genes that share paralogs with ACTG2           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ACTG2
    PGOHUM00000244823 PGOHUM00000246338


    (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 ACTG2 (see all 805)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs177259711,2
    C,F,H--74118201(+) GAGGAA/GGCCAG 2 -- us2k112Minor allele frequency- G:0.06NA NS EA 690
    rs1905325781,2
    C--74118262(+) TGTGCA/GTTTAG 2 -- us2k10--------
    rs1160181531,2
    F--74118352(+) GGCTGA/CGGCCT 2 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1827907471,2
    --74118379(+) TTTCAA/GTAGGG 2 -- us2k10--------
    rs1450647251,2
    --74118531(+) CTCCAC/GGCCAG 2 -- us2k10--------
    rs739480411,2
    C,F--74118603(+) GGGCAT/CTTCTG 2 -- us2k16Minor allele frequency- C:0.25WA CSA NA 245
    rs133876471,2
    C,F,A,H--74118611(+) CTGGTC/GGGGGG 2 -- us2k111Minor allele frequency- G:0.43NS EA WA NA CSA 667
    rs729174501,2
    C,F--74118657(+) CATGAG/CGGAGA 2 -- us2k16Minor allele frequency- C:0.24WA CSA NA 244
    rs1142836541,2
    C--74118694(+) TAGCTC/TGAAGG 2 -- us2k10--------
    rs771122491,2
    C,F--74118796(+) GAAGAG/ACTGGA 2 -- us2k11Minor allele frequency- A:0.06EA 120

    HapMap Linkage Disequilibrium report for ACTG2 (74119441 - 74146992 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ACTG2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720208CNV Deletion23290073
    esv2720209CNV Deletion23290073
    esv274506CNV Insertion20981092
    esv271368CNV Insertion20981092
    esv2566981CNV Insertion19546169
    nsv470469CNV Gain18288195
    esv33667CNV Gain17666407

    Human Gene Mutation Database (HGMD): ACTG2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACTG2
    DNA2.0 Custom Variant and Variant Library Synthesis for ACTG2

    (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: 102545    OMIM disorders: --

    4 diseases for ACTG2:    
    About MalaCards
    megacystis microcolon intestinal hypoperistalsis syndrome    visceral myopathy    myopathic intestinal pseudoobstruction    legg-calve-perthes disease

    1 disease from the University of Copenhagen DISEASES database for ACTG2:
    Legg-Calve-Perthes Disease

    Find genes that share disorders with ACTG2           About GenesLikeMe

    1 Novoseek inferred disease relationship for ACTG2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 5 7777483 (1), 2174404 (1)

    Genetic Association Database (GAD): ACTG2
    Human Genome Epidemiology (HuGE) Navigator: ACTG2 (1 document)

    Export disorders for ACTG2 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 ACTG2 gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with ACTG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure, chromosome location, and expression of the human smooth muscle (enteric type) gamma-actin gene: evolution of six human actin genes. (PubMed id 1710027)1, 2, 3, 9 Miwa T.... Kakunaga T. (Mol. Cell. Biol. 1991)
    2. Gamma 2 actin gene (enteric type) polymorphism is not associated with obstetric cholestasis or preeclampsia. (PubMed id 17934296)1, 4 Laasanen J....Heinonen S. (Fetal. Diagn. Ther. 2008)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)
    6. A HindIII DNA polymorphism in the human enteric type smooth muscle actin gene (ACTSG). (PubMed id 1673027)1, 3 Ueyama H. (Nucleic Acids Res. 1991)
    7. The nucleotide sequence of a human smooth muscle (enteric type) gamma-actin cDNA. (PubMed id 2377475)1, 2 Miwa T.... Kakunaga T. (Nucleic Acids Res. 1990)
    8. The smooth muscle gamma-actin gene is androgen responsive in prostate epithelia. (PubMed id 12450213)1, 9 Filmore R.A....Zimmer W.E. (Gene Expr. 2002)
    9. Myocardin-dependent activation of the CArG box-rich smooth muscle gamma-actin gene: preferential utilization of a single CArG element through functional association with the NKX3.1 homeodomain protein. (PubMed id 19797053)1, 9 Sun Q....Miano J.M. (J. Biol. Chem. 2009)
    10. Virus assembly and plasma membrane domains: which came first? (PubMed id 22989508)1 Kerviel A....Muriaux D. (Virus Res. 2013)

    (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: 72 HGNC: 145 AceView: ACTG2 Ensembl:ENSG00000163017 euGenes: HUgn72
    ECgene: ACTG2 Kegg: 72 H-InvDB: ACTG2

    (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 ACTG2 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 ACTG2 gene:
    Search GeneIP for patents involving ACTG2

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



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