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FLASH GENE
Symbol ACTG2 contributors: mct - updated : 24-08-2017
HGNC name actin, gamma 2, smooth muscle, enteric
HGNC id 145
Corresponding disease
MMIH2 megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Location 2p13.1      Physical location : 74.120.092 - 74.146.779
Synonym name
  • actin, gamma 2
  • actin-like protein
  • alpha-smooth muscle actin
  • Synonym symbol(s) ACTL3, ACTA3, ACTSG, ACTE, ACT, SMGA, gamma SMA
    DNA
    TYPE functioning gene
    STRUCTURE 26.69 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC344022 2p13.2 similar to Gnot1 homeodomain protein SMYD5 2p12 SMYD family member 5 C2orf7 2p12 chromosome 2 open reading frame 7 CCT7 2p13.2 chaperonin containing TCP1, subunit 7 (eta) EGR4 2p13 early growth response 4 LOC391387 2 similar to protein 40kD ALMS1 2p13 Alstrom syndrome 1 NAT8 2p13-1-p12 N-acetyltransferase 8 (camello like) LOC200420 2p13.1 LOC200420 CML2 2p13.1 putative N-acetyltransferase Camello 2 CGI-121 2p24.3-p24.1 CGI-121 protein DUSP11 2p13 dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) LOC388960 2 similar to hypothetical protein 4921507A12 AMSH ACTG2 2p13.1 actin, gamma 2, smooth muscle, enteric DGUOK 2p24.3-p24.1 deoxyguanosine kinase LOC388961 2 LOC388961 MGC22014 2p13.1 hypothetical protein MGC22014 MGC10955 2p13.1 hypothetical protein MGC10955 LOC388962 2 similar to RIKEN cDNA 1810056O20 C2orf6 2p12 chromosome 2 open reading frame 6 MTHFD2 2p12 methylene tetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase SLC4A5 2p13 solute carrier family 4, sodium bicarbonate cotransporter, member 5 DCTN1 2p13 dynactin 1 (p150, glued homolog, Drosophila) LOC388963 2 similar to Retinol dehydrogenase 12 LOC257200 2p13.1 similar to high mobility group AT-hook 1 FLJ12953 2p13.1 hypothetical protein FLJ12953 similar to Mus musculus D3Mm3e RTKN 2p13 rhotekin
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1345 - 376 - 2016 27107594
    8 - 1216 - 333 - 2016 27107594
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     intestinelarge intestinecolon highly
    Reproductivemale systemprostate  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothmuscularis mucosa (tractus digestif) highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY actin family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • being mediator of internal cell motility
  • its expression in HCC is strongly correlated with the Epithelial-Mesenchymal Transition (EMT) process, hepatocellular carcinoma (HCC) aggressiveness and the identification of cancer stem cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of the cytoskeleton
    INTERACTION
    DNA
    RNA
    small molecule
    protein target of NKX 3.1 regulatory activity (activity in prostate epithelia is due, in part, to the androgen-dependent expression of NKX3.1)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MMIH2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in androgen-responsive LNCaP cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • represents a novel and powerful marker to predict HCC progression
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    novel target for the treatment of HCC
    ANIMAL & CELL MODELS