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 componen... See more...

Aliases for ACTG2 Gene

Aliases for ACTG2 Gene

  • Actin Gamma 2, Smooth Muscle 2 3 5
  • Actin, Gamma 2, Smooth Muscle, Enteric 2 3
  • Actin, Gamma-Enteric Smooth Muscle 3 4
  • Alpha-Actin-3 3 4
  • ACTA3 3 4
  • ACTL3 3 4
  • ACTSG 3 4
  • 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) is a Protein Coding gene. Diseases associated with ACTG2 include Visceral Myopathy and Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. Among its related pathways are Long-term potentiation and Sertoli-Sertoli Cell Junction Dynamics. An important paralog of this gene is ACTC1.

UniProtKB/Swiss-Prot Summary 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.

Gene Wiki entry for ACTG2 Gene

Additional gene information for ACTG2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACTG2 Gene

Genomics for ACTG2 Gene

GeneHancer (GH) Regulatory Elements for ACTG2 Gene

Promoters and enhancers for ACTG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J073892 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 514.8 +4.3 4287 9.2 EP300 RBM25 BCL11A TCF12 CBFB SRF MAFK ARNT MEF2B NBN ACTG2 STAMBP DGUOK TET3 BOLA3 BOLA3-AS1 TPRKB HTRA2 MOB1A ALMS1-IT1
GH02J073890 Enhancer 0.7 Ensembl dbSUPER 500.7 -1.3 -1313 1.2 REST ZBTB17 BCL6 MIER2 TEAD3 NFIA FOXA2 MLLT1 HNRNPL EP300 ACTG2 STAMBP TPRKB piR-48820-052
GH02J073925 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +34.7 34720 3.5 EP300 ZBTB40 ZNF217 SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 PHF8 DGUOK ACTG2 STAMBP BOLA3-AS1 BOLA3 DGUOK-AS1 RF00001-171
GH02J073987 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +92.4 92429 8.5 ZBTB40 ZNF217 CTCF SIN3A POLR2G USF1 PHF8 ZFX REST POLR2A ENSG00000235499 TET3 STAMBP ACTG2 BOLA3 BOLA3-AS1 ENSG00000217702 DGUOK-AS1 piR-30934
GH02J073921 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.5 +29.0 28986 1 CTCF REST CTBP1 SMC3 ZNF341 POLR2A NCOR1 KLF9 ZNF316 ZBTB17 ACTG2 STAMBP BOLA3 BOLA3-AS1 DGUOK RF00017-3237
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACTG2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACTG2

Top Transcription factor binding sites by QIAGEN in the ACTG2 gene promoter:
  • Brachyury
  • FOXO3
  • FOXO3a
  • FOXO3b
  • Hlf
  • Roaz
  • USF-1
  • USF-1:USF-2
  • USF1
  • Zic1

Genomic Locations for ACTG2 Gene

Genomic Locations for ACTG2 Gene
chr2:73,892,314-73,919,865
(GRCh38/hg38)
Size:
27,552 bases
Orientation:
Plus strand
chr2:74,119,441-74,146,992
(GRCh37/hg19)
Size:
27,552 bases
Orientation:
Plus strand

Genomic View for ACTG2 Gene

Genes around ACTG2 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for ACTG2 Gene

  • 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 promotes actin repolymerization.
  • 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.
  • Methylated at His-74 by SETD3.
  • (Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-51 of one monomer and Glu-271 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACTG2 Gene

Domains & Families for ACTG2 Gene

Gene Families for ACTG2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ACTG2 Gene

Suggested Antigen Peptide Sequences for ACTG2 Gene

GenScript: Design optimal peptide antigens:
  • Smooth muscle gamma-actin (ACTH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P63267

UniProtKB/Swiss-Prot:

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

Function for ACTG2 Gene

Molecular function for ACTG2 Gene

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.
GENATLAS Biochemistry:
actin,gamma 2,smooth muscle,enteric,major constituent of thin filaments

Phenotypes From GWAS Catalog for ACTG2 Gene

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

Human Phenotype Ontology for ACTG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACTG2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ACTG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0015629 actin cytoskeleton IBA 21873635
genes like me logo Genes that share ontologies with ACTG2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACTG2 Gene

Pathways & Interactions for ACTG2 Gene

PathCards logo

SuperPathways for ACTG2 Gene

SuperPathway Contained pathways
1 Actin Nucleation by ARP-WASP Complex
.66
.66
.41
.35
2 PAK Pathway
.56
.56
.36
3 VEGF Pathway (Qiagen)
.66
.66
.36
4 fMLP Pathway
.44
.43
.31
5 Sertoli-Sertoli Cell Junction Dynamics
.38
.38
.36
genes like me logo Genes that share pathways with ACTG2: view

Pathways by source for ACTG2 Gene

1 BioSystems pathway for ACTG2 Gene
2 Reactome pathways for ACTG2 Gene
1 KEGG pathway for ACTG2 Gene
8 GeneGo (Thomson Reuters) pathways for ACTG2 Gene
  • Cell adhesion Gap junctions
  • Cell adhesion Tight junctions
  • Cell adhesion_Cadherin-mediated cell adhesion
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Cytoskeleton remodeling_RalA regulation pathway
43 Qiagen pathways for ACTG2 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Agrin Interactions at Neuromuscular Junction
  • Antioxidant Action of Vitamin-C
1 Cell Signaling Technology pathway for ACTG2 Gene

SIGNOR curated interactions for ACTG2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ACTG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS --
GO:0010628 positive regulation of gene expression ISS --
GO:0090131 mesenchyme migration ISS --
genes like me logo Genes that share ontologies with ACTG2: view

Drugs & Compounds for ACTG2 Gene

(11) Drugs for ACTG2 Gene - From: DrugBank, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Latrunculin A Experimental Pharma Inhibitor of actin assembly and polymerization 0
(2S)-2-({6-[(3-Amino-5-chlorophenyl)amino]-9-isopropyl-9H-purin-2-yl}amino)-3-methyl-1-butanol Experimental Pharma Target 0
Fisetin Experimental Pharma Target 5
CK 666 Pharma Arp2/3 inhibitor; inhibits actin polymerization 0
CK 869 Pharma Arp2/3 inhibitor; inhibits actin polymerization 0

(5) Tocris Compounds for ACTG2 Gene

Compound Action Cas Number
187-1, N-WASP inhibitor N-WASP inhibitor; inhibits actin assembly 380488-27-7
CK 666 Arp2/3 inhibitor; inhibits actin polymerization 442633-00-3
CK 869 Arp2/3 inhibitor; inhibits actin polymerization 388592-44-7
Latrunculin A Inhibitor of actin assembly and polymerization 76343-93-6
Wiskostatin N-WASP inhibitor; inhibits Arp2/3 activation 253449-04-6

(8) ApexBio Compounds for ACTG2 Gene

Compound Action Cas Number
CK 666 442633-00-3
CK 869 388592-44-7
Cytochalasin D inhibitor of actin polymerization, selective 22144-77-0
Jasplakinolide 102396-24-7
Latrunculin A 76343-93-6
Phalloidin 17466-45-4
SMIFH2 340316-62-3
Wiskostatin 253449-04-6
genes like me logo Genes that share compounds with ACTG2: view

Drug Products

Transcripts for ACTG2 Gene

mRNA/cDNA for ACTG2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for ACTG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x11.7), Esophagus - Muscularis (x7.8), and Esophagus - Gastroesophageal Junction (x5.6).

Protein differential expression in normal tissues from HIPED for ACTG2 Gene

This gene is overexpressed in Heart (24.3), Saliva (10.2), Skin (9.3), Brain (7.2), and Lung (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACTG2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACTG2

SOURCE GeneReport for Unigene cluster for ACTG2 Gene:

Hs.516105

Evidence on tissue expression from TISSUES for ACTG2 Gene

  • Intestine(4.9)
  • Stomach(4.7)
  • Lung(3.2)
  • Muscle(3.1)
  • Nervous system(2.3)
  • Gall bladder(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACTG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • rectum
  • ureter
  • urinary bladder
  • uterus
genes like me logo Genes that share expression patterns with ACTG2: view

No data available for Protein tissue co-expression partners and 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
oppossum
(Monodelphis domestica)
Mammalia ACTG2 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTC 31
  • 100 (a)
OneToOne
ACTG2 30
  • 93.88 (n)
chimpanzee
(Pan troglodytes)
Mammalia ACTG2 30
  • 99.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACTG2 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACTB 31
  • 95 (a)
OneToOne
ACTG2 30
  • 93.97 (n)
mouse
(Mus musculus)
Mammalia Actg2 17 31 30
  • 92.82 (n)
rat
(Rattus norvegicus)
Mammalia Actg2 30
  • 92.2 (n)
chicken
(Gallus gallus)
Aves ACTG2 30
  • 86.08 (n)
lizard
(Anolis carolinensis)
Reptilia ACTG2 31
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acta2 30
  • 82.62 (n)
zebrafish
(Danio rerio)
Actinopterygii acta2 31 30
  • 84.22 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Act5C 32
  • 94 (a)
Act42A 32
  • 93 (a)
Act88F 32
  • 92 (a)
Act87E 32
  • 92 (a)
Act57B 32
  • 92 (a)
Act79B 32 30
  • 80.85 (n)
Arp53D 32
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea act-2 32
  • 94 (a)
act-3 32
  • 93 (a)
act-1 32
  • 93 (a)
act-5 32
  • 91 (a)
F42C5.9 32
  • 28 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACT4 30
  • 72.12 (n)
soybean
(Glycine max)
eudicotyledons Gma.16111 30
rice
(Oryza sativa)
Liliopsida Os10g0510000 30
  • 75.69 (n)
Species where no ortholog for ACTG2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACTG2: view image

Paralogs for ACTG2 Gene

(32) SIMAP similar genes for ACTG2 Gene using alignment to 5 proteins:

  • ACTH_HUMAN
  • B8ZZJ2_HUMAN
  • C9JFL5_HUMAN
  • F8WB63_HUMAN
  • F8WCH0_HUMAN

Pseudogenes.org Pseudogenes for ACTG2 Gene

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

Variants for ACTG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACTG2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
666312 Likely Pathogenic: Visceral myopathy 73,908,754(+) C/G MISSENSE_VARIANT
684544 Not Provided: ACTG2-Related Disorder 73,913,511(+) G/A MISSENSE_VARIANT
694268 Pathogenic: Visceral myopathy 73,901,427(+) C/T MISSENSE_VARIANT
694269 Pathogenic: Visceral myopathy 73,902,421(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
694318 Uncertain Significance: Visceral myopathy 73,902,698(+) C/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ACTG2 Gene

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

Variant ID Type Subtype PubMed ID
esv2566981 CNV insertion 19546169
esv33667 CNV gain 17666407
esv3558589 CNV deletion 23714750
nsv1010401 CNV gain 25217958
nsv470469 CNV gain 18288195
nsv582213 CNV loss 21841781

Variation tolerance for ACTG2 Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.23; 5.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACTG2 Gene

Human Gene Mutation Database (HGMD)
ACTG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACTG2

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACTG2 Gene

MalaCards: The human disease database

(19) MalaCards diseases for ACTG2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACTG2 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for ACTG2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACTG2: view

No data available for Genatlas for ACTG2 Gene

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 (Molecular and cellular biology 1991) 2 3 4 23 54
  2. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. (PMID: 24337657) Thorson W … Tekin M (Human genetics 2014) 3 4 54
  3. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. (PMID: 24676022) Wangler MF … Beaudet A (PLoS genetics 2014) 3 4 54
  4. Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. (PMID: 22960657) Lehtonen HJ … Tuupanen S (Gastroenterology 2012) 3 4 54
  5. 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. (PMID: 19797053) Sun Q … Miano JM (The Journal of biological chemistry 2009) 3 23 54

Products for ACTG2 Gene

Sources for ACTG2 Gene