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FLASH GENE
Symbol SMARCA2 contributors: mct/npt/pgu - updated : 21-05-2015
HGNC name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
HGNC id 11098
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a DNA dependent SNF2/ ATPase/DNA helicase activity
  • a bromodomain motif at the C terminus
  • 1 bromo domain
  • 1 helicase C-terminal domain
  • a HSA domain
  • HOMOLOGY
    interspecies ortholog to Drosophila ISWI (imitation of SWI)
    ortholog to yeast S.cerevisiae SWI/SNF general transcriptional activator
    intraspecies paralog to SMARCs
    Homologene
    FAMILY
  • SNF2/Rad54 helicase family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • catalytic component of the SWI/SNF-related chromatin-remodeling complex, actin-dependent regulator of chromatin structure
  • during mitosis, phosphorylated and excluded from the condensed chromosomes
  • able to compensate for BRC1 (SMARCA4) loss as pertains to RB sensitivity
  • playing a role in the differentiation of retinal progenitors into retinal ganglion cells
  • may promote retinal ganglion cells differentiation by facilitating transcriptional activation and function of POU4F2
  • required for villin expression, a definitive marker of intestinal metaplasia and differentiation and should play significant roles in determining the histologic features of gastric malignancy
  • central ATPase of the SWI/SNF complex, and a critical factor for the functional activity of nuclear receptor complexes
  • antagonistic roles for SMARCA2 and SMARCA4 SWI/SNF complexes in differentiation
  • with CDX2, cooperatively regulate villin expression in gastrointestinal cells
  • promote expression of distinct and overlapping MITF target genes and that at least one ATPase is required for melanoma tumorigenicity
  • SMARCA2/SMARCA4A switch is an indicator of the responsiveness of a gene to heat-shock or IFNG stimulation and may represent an "on-off switch" of gene expression
  • SMARCA2 and SMARCA4, play critical roles in regulating development of smooth muscle and SMARCA4 has specific functions within vascular and gastrointestinal smooth muscle that cannot be performed by SMARCA2
  • expression of SMARCA2 and SMARCC2 during reprogramming was regulated by JAK/STAT3 activity
  • CELLULAR PROCESS nucleotide, chromatin organization
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin
  • complexing with MECP2
  • INTERACTION
    DNA binding
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • actin
  • glucocorticoid receptor
  • interacting with SLC6A2 and MECP2 (increased SLC6A2 gene expression in response to membrane depolarization was strongly correlated with the dissociation of MECP2 and SMARCA2 complex on the unmethylated gene)
  • associated with MECP2 and functionaly linked to repression
  • interacting with REST (REST silencing induces deregulation of SMARCA2) and risk of schizophrenia
  • cell & other
    REGULATION
    Other cleaved by cathepsin G (CTSG) during apoptosis
    stimulates MYOD-mediated muscle differentiation
    developmentally regulated by mutually exclusive binding of
    C/EBPbeta and GATAs
    ASSOCIATED DISORDERS
    corresponding disease(s) CSSSCA2 , NKBRS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    in human gastric cancer cell lines
    Susceptibility
  • to schizophrenia
  • to lung cancer risk
  • Variant & Polymorphism SNP
  • significantly correlated in the fold changes of gene expression from schizophrenic prefrontal cortex
  • two insertion promoter sequence variants are associated with loss of SMARCA2 expression and lung cancer risk
  • Candidate gene
  • valid marker of gastric oncogenesis
  • Marker
    Therapy target
    ANIMAL & CELL MODELS