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FLASH GENE
Symbol SMARCD2 contributors: mct - updated : 20-09-2023
HGNC name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
HGNC id 11107
Corresponding disease
SGD2 specific granule deficiency 2
Location 17q23.3      Physical location : 61.909.440 - 61.920.351
Synonym name
  • BRG1 (brm/SWI2-related gene 1) associated factor 60B,related to yeast SWP73
  • SWI/SNF complex 60 kDa subunit B
  • Swp73-like protein
  • chromatin remodeling complex BAF60B subunit
  • Synonym symbol(s) BAF60B, CRACD2, PRO2451, Rsc6p, SGD2
    DNA
    TYPE functioning gene
    STRUCTURE 10.60 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2464 - 531 - 2021 33279574
    13 - 2341 - 456 - 2021 33279574
    13 - 2356 - 483 - 2021 33279574
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to yeast S.cerevisiae SWI/SNF,Rsc6p
    Homologene
    FAMILY SWI/SNF family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,kinetochore
    text matrix associated
    basic FUNCTION
  • actin-dependent regulator of chromatin structure
  • SMARCA4, SMARCD2, DPF2 are required for the expression of haematopoietic stem cell associated genes but in contrast to previous results obtained in mouse cells, the three proteins are not required for the expression of MYC regulated genes
  • links chromatin opening to ATM activation by facilitating ATM recruitment to the open chromatin regions of a panel of hepatic gene loci
  • is a critical regulator of myeloid differentiation
  • controls early steps in the differentiation of myeloid-erythroid progenitor cells
  • is a key factor controlling myelopoiesis and is a potential tumor suppressor in leukemia
  • conserved role specifically for the SMARCD2 subunit in granulopoiesis
  • SMARCD1, D2, D3 proteins are involved in the regulation of numerous hormone-dependent AR-driven genes, and play an important, yet paradoxical, role in prostate carcinogenesis
  • CELLULAR PROCESS nucleotide, chromatin organization
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of the chromatin remodeling complex
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • UNK is a new partner of the activated form of RacGTPases and specifically binds to SMARCD2 and promotes its ubiquitination in a RAC1-dependent manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SGD2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS