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FLASH GENE
Symbol SMARCA2 contributors: mct/npt/pgu - updated : 21-05-2012
HGNC name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
HGNC id 11098
Corresponding disease
CSSSCA2 Coffin-Siris syndrome
Location 9p24.3      Physical location : 2.015.341 - 2.193.621
Synonym name
  • SNF2 (sucrose non fermenting yeast,homolog)-like 2, Brahma gene
  • sucrose nonfermenting 2-like protein 2
  • global transcription activator homologous sequence
  • SNF2/SWI2-like protein 2
  • Synonym symbol(s) SNF2L2, BAF190, hSNF2a, Sth1p, SNF2LA, BRM, SWI2, FLJ36757, MGC74511
    EC.number 3.6.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 178.28 kb     34 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    motif
    text structure
  • a trinucleotide repeat (CAG) length polymorphism
  • contains two putative binding sites, site partially overlapped with binding sites for GATAs for CCAAT enhancer binding protein beta (C/EBPbeta)
  • MAPPING cloned Y linked N status provisional
    Physical map
    LOC392406 9 similar to hypothetical protein LOC392411 9 similar to paranemin LOC389827 9 similar to RIKEN cDNA 1110002H13 C9orf66 9p24.3 chromosome 9 open reading frame 66 LOC392413 9 similar to MGC43306 protein LOC389701 9 similar to Dedicator of cytokinesis protein 6 DOCK8 9p24.3 dedicator of cytokinesis 8 ANKRD15 9p24.3-p24.1 ankyrin repeat domain 15 DMRT1 9p24.3 doublesex and mab-3 related transcription factor 1 DMRT3 9p24.3 doublesex and mab-3 related transcription factor 3 LOC389702 9 LOC389702 DMRT2 9p24.3 doublesex and mab-3 related transcription factor 2 SMARCA2 9p24.1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 LOC389703 9 LOC389703 VLDLR 9p24 very low density lipoprotein receptor KCNV2 9p24-p22 potassium channel, subfamily V, member 2 KIAA0020 9p24.2 KIAA0020 LOC392281 9 similar to G protein pathway suppressor 2 LOC138234 9p24.2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d pseudogene CARM1L 9p24.2 coactivator associated arginine methyltransferase 1-like RFX3 9p24 regulatory factor X, 3 (influences HLA class II expression) ZNF515 9p24.2 zinc finger protein 515
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    34 - 5758 181 1590 - 1996 8670841
    33 - 5703 179 1572 - 1996 8670841
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineneuroendocrinepituitary  highly
     parathyroid   highly
    Reproductivefemale systembreastmammary gland highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
  • 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