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FLASH GENE
Symbol SMARCC2 contributors: npt/mct - updated : 30-01-2019
HGNC name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
HGNC id 11105
Corresponding disease
IDSDBA intellectual disability, with significant speech delay, and behavioral abnormalities
Location 12q13.2      Physical location : 56.555.636 - 56.583.351
Synonym name
  • BRG1 (brm/SWI2-related gene 1) associated factor 170
  • SWI/SNF complex 170 kDa subunit
  • SWI3-like protein
  • Synonym symbol(s) BAF170, CRACC2, RSC8
    DNA
    TYPE functioning gene
    STRUCTURE 27.22 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map see SMARCD1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    30 - 4920 - 1152 - 2017 28533407
    28 - 5106 133 1214 - 2017 28533407
    29 - 4854 - 1130 - 2017 28533407
    29 - 5199 - 1245 - 2017 28533407
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainlimbic systemhippocampusdentate gyrus  Homo sapiens
    Olfactory (smell)olfactory bulb     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte Homo sapiens
    Olfactoryolfactory receptor Homo sapiens
    cell lineage expression restricts pluripotency and interferes with self-renewal (Ho 2009)
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • chromatin organization modifier domain
  • a SANT domain, having DNA-binding activity and believed to function as a histone tail binding module
  • a highly conserved SWIRM (Swi3, Rsc8, and Moira) domain, interacting with DNA, binding di-nucleosome structures, and mediating specific protein-protein interactions
  • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae SWI/SNF
    intraspecies paralog to SMARCC1
    Homologene
    FAMILY
  • SMARCC family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text matrix associated
    basic FUNCTION
  • actin-dependent regulator of chromatin structure
  • intrinsic factor of glial radial cells and plays a crucial role in embryogenesis and corticogenesis, determining the mammalian body and cortical size
  • chromatin regulation by SMARCC2 controls cerebral cortical size and thickness
  • expression of SMARCA2 and SMARCC2 during reprogramming was regulated by JAK/STAT3 activity
  • involvement of SMARCC2-dependent chromatin remodeling in hippocampal neurogenesis and cognition, suggesing a specific role of adult neurogenesis in dentate gyrus (DG) in adaptive behavior
  • SMARCC2, SMARCC1 play essential roles in specification, olfactory neural stem cells (oNSCs) proliferation and olfactory receptor neurons (ORNs) maturation of developing olfactory epithelium
  • CELLULAR PROCESS nucleotide, chromatin organization
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the chromatin remodeling complex
  • subunit of the chromatin remodeling complex mSWI/SNF
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SMARCD3 and SMARCC2 are required for proper BAF complex composition, and SMARCC2 loss leads to retention of SMARCA4 at cardiac precursors (CPs)-specific sites
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IDSDBA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS