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Aliases for ACTG2 Gene

Aliases for ACTG2 Gene

  • Actin, Gamma 2, Smooth Muscle, Enteric 2 3
  • ACTA3 3 4 6
  • Alpha-Actin-3 3 4
  • ACTL3 3 4
  • ACTSG 3 4
  • Actin, Gamma-Enteric Smooth Muscle 3
  • Smooth Muscle Gamma-Actin 4
  • Actin-Like Protein 3
  • Gamma-2-Actin 4
  • ACTE 3
  • VSCM 3
  • ACT 3

External Ids for ACTG2 Gene

Previous HGNC Symbols for ACTG2 Gene

  • ACTL3
  • ACTA3

Previous GeneCards Identifiers for ACTG2 Gene

  • GC02P074257
  • GC02P074077
  • GC02P074094
  • GC02P074031
  • GC02P074119
  • GC02P073854

Summaries for ACTG2 Gene

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 visceral myopathy and myopathic intestinal pseudoobstruction. Among its related pathways are Akt Signaling and ERK Signaling. An important paralog of this gene is ACTB.

UniProtKB/Swiss-Prot for ACTG2 Gene

  • Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells

Tocris 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTG2 Gene

Genomics for ACTG2 Gene

Regulatory Elements for ACTG2 Gene

Genomic Location for ACTG2 Gene

Start:
73,892,314 bp from pter
End:
73,919,865 bp from pter
Size:
27,552 bases
Orientation:
Plus strand

Genomic View for ACTG2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACTG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTG2 Gene

Proteins for ACTG2 Gene

  • Protein details for ACTG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P63267-ACTH_HUMAN
    Recommended name:
    Actin, gamma-enteric smooth muscle
    Protein Accession:
    P63267
    Secondary Accessions:
    • B2R7E7
    • B4E315
    • D6W5H8
    • E9PG30
    • P12718
    • Q504R1
    • Q6FI22

    Protein attributes for ACTG2 Gene

    Size:
    376 amino acids
    Molecular mass:
    41877 Da
    Quaternary structure:
    • 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

    Alternative splice isoforms for ACTG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACTG2 Gene

Proteomics data for ACTG2 Gene at MOPED

Post-translational modifications for ACTG2 Gene

  • 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).
  • 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).
  • Ubiquitination at Lys51, Lys62, Lys69, Lys114, Lys192, Lys214, Lys292, Lys316, Lys327, and Lys329
  • Modification sites at PhosphoSitePlus

Other Protein References for ACTG2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ACTG2 (ACTG2)

No data available for DME Specific Peptides for ACTG2 Gene

Domains for ACTG2 Gene

Protein Domains for ACTG2 Gene

Suggested Antigen Peptide Sequences for ACTG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P63267

UniProtKB/Swiss-Prot:

ACTH_HUMAN :
  • P63267
Family:
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTG2: view

No data available for Gene Families for ACTG2 Gene

Function for ACTG2 Gene

Molecular function for ACTG2 Gene

GENATLAS Biochemistry: actin,gamma 2,smooth muscle,enteric,major constituent of thin filaments
UniProtKB/Swiss-Prot Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells

Gene Ontology (GO) - Molecular Function for ACTG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ACTG2: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACTG2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ACTG2 Gene

Localization for ACTG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTG2 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACTG2 Gene COMPARTMENTS Subcellular localization image for ACTG2 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ACTG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0070062 extracellular exosome IDA 23533145
GO:0071944 cell periphery IEA --
genes like me logo Genes that share ontologies with ACTG2: view

Pathways for ACTG2 Gene

genes like me logo Genes that share pathways with ACTG2: view

Gene Ontology (GO) - Biological Process for ACTG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
genes like me logo Genes that share ontologies with ACTG2: view

Compounds for ACTG2 Gene

(5) Tocris Compounds for ACTG2 Gene

Compound Action Cas Number
CK 666 Arp2/3 inhibitor; inhibits actin polymerization [442633-00-3]
Cytochalasin D Disrupts actin filament function [22144-77-0]
Jasplakinolide Stabilizes F-actin; promotes actin polymerization [102396-24-7]
Latrunculin A Inhibitor of actin assembly and polymerization [76343-93-6]
Phalloidin Promotes actin polymerization [17466-45-4]
genes like me logo Genes that share compounds with ACTG2: view

Transcripts for ACTG2 Gene

Unigene Clusters for ACTG2 Gene

Actin, gamma 2, smooth muscle, enteric:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACTG2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACTG2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - - - -
SP5: - - - - -
SP6: - -
SP7: - - -

Relevant External Links for ACTG2 Gene

GeneLoc Exon Structure for
ACTG2
ECgene alternative splicing isoforms for
ACTG2

Expression for ACTG2 Gene

mRNA expression in normal human tissues for ACTG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACTG2 Gene

This gene is overexpressed in Colon - Sigmoid (11.7), Esophagus - Muscularis (7.8), and Esophagus - Gastroesophageal Junction (5.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ACTG2 Gene

SOURCE GeneReport for Unigene cluster for ACTG2 Gene Hs.516105

genes like me logo Genes that share expressions with ACTG2: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ACTG2 Gene

Orthologs for ACTG2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACTG2 35
  • 99.65 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia ACTB 36
  • 95 (a)
OneToOne
ACTG2 35
  • 93.97 (n)
  • 100 (a)
dog
(Canis familiaris)
Mammalia ACTC 36
  • 100 (a)
OneToOne
ACTG2 35
  • 93.88 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Actg2 35
  • 92.82 (n)
  • 100 (a)
Actg2 16
Actg2 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACTG2 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACTG2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Actg2 35
  • 92.2 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves ACTG2 35
  • 86.08 (n)
  • 100 (a)
lizard
(Anolis carolinensis)
Reptilia ACTG2 36
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acta2 35
  • 82.62 (n)
  • 99.73 (a)
zebrafish
(Danio rerio)
Actinopterygii acta2 35
  • 84.22 (n)
  • 98.94 (a)
acta2 36
  • 99 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Act79B 35
  • 80.85 (n)
  • 92.29 (a)
Act5C 37
  • 94 (a)
Arp53D 37
  • 63 (a)
Act87E 37
  • 92 (a)
Act57B 37
  • 92 (a)
Act88F 37
  • 92 (a)
Act42A 37
  • 93 (a)
Act79B 37
  • 92 (a)
worm
(Caenorhabditis elegans)
Secernentea act-1 37
  • 93 (a)
act-3 37
  • 93 (a)
act-5 37
  • 91 (a)
F42C5.9 37
  • 28 (a)
act-2 37
  • 94 (a)
soybean
(Glycine max)
eudicotyledons Gma.16111 35
thale cress
(Arabidopsis thaliana)
eudicotyledons ACT4 35
  • 72.12 (n)
  • 87.13 (a)
rice
(Oryza sativa)
Liliopsida Os10g0510000 35
  • 75.69 (n)
  • 87.4 (a)
Species with no ortholog for ACTG2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACTG2 Gene

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

Paralogs for ACTG2 Gene

Pseudogenes.org Pseudogenes for ACTG2 Gene

genes like me logo Genes that share paralogs with ACTG2: view

Variants for ACTG2 Gene

Sequence variations from dbSNP and Humsavar for ACTG2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs702460 -- 73,908,605(+) GCATG(A/G)GAATG intron-variant
rs702461 -- 73,908,670(+) TCCAC(C/T)AGATC intron-variant
rs756127 -- 73,908,253(+) CAGGA(A/G)ATAGa intron-variant
rs756128 -- 73,908,771(-) ATCTT(C/T)TCCCT reference, synonymous-codon
rs831533 -- 73,892,121(+) gcagg(C/T)gcctg upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ACTG2 Gene

Variant ID Type Subtype PubMed ID
nsv470469 CNV Gain 18288195
esv2566981 CNV Insertion 19546169
esv271368 CNV Insertion 20981092
esv274506 CNV Insertion 20981092
esv33667 CNV Gain 17666407
esv2720208 CNV Deletion 23290073
esv2720209 CNV Deletion 23290073

Relevant External Links for ACTG2 Gene

HapMap Linkage Disequilibrium report
ACTG2
Human Gene Mutation Database (HGMD)
ACTG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTG2 Gene

Disorders for ACTG2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for ACTG2 Gene including...

Search for ACTG2 Gene in MalaCards »

UniProtKB/Swiss-Prot

ACTH_HUMAN
  • Visceral myopathy (VSCM) [MIM:155310]: A rare inherited form of myopathic pseudo-obstruction characterized by impaired function of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. The disease shows inter- and intrafamilial variability. Most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and dependence on total parenteral nutrition and urinary catheterization. {ECO:0000269 PubMed:22960657, ECO:0000269 PubMed:24337657, ECO:0000269 PubMed:24676022, ECO:0000269 PubMed:24777424}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ACTG2 Gene

(1) Novoseek inferred disease relationships for ACTG2 Gene

Disease -log(P) Hits PubMed IDs
tumors 0 2

Relevant External Links for ACTG2

Genetic Association Database (GAD)
ACTG2
Human Genome Epidemiology (HuGE) Navigator
ACTG2
genes like me logo Genes that share disorders with ACTG2: view

Publications for ACTG2 Gene

  1. Structure, chromosome location, and expression of the human smooth muscle (enteric type) gamma-actin gene: evolution of six human actin genes. (PMID: 1710027) Miwa T. … Kakunaga T. (Mol. Cell. Biol. 1991) 2 3 4 23
  2. The nucleotide sequence of a human smooth muscle (enteric type) gamma-actin cDNA. (PMID: 2377475) Miwa T. … Kakunaga T. (Nucleic Acids Res. 1990) 3 4
  3. The smooth muscle gamma-actin gene is androgen responsive in prostate epithelia. (PMID: 12450213) Filmore R.A. … Zimmer W.E. (Gene Expr. 2002) 3 23
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4
  5. Gamma 2 actin gene (enteric type) polymorphism is not associated with obstetric cholestasis or preeclampsia. (PMID: 17934296) Laasanen J. … Heinonen S. (Fetal. Diagn. Ther. 2008) 3 48

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