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FLASH GENE
Symbol DPPA4 contributors: mct - updated : 30-01-2013
HGNC name developmental pluripotency associated 4
HGNC id 19200
Location 3q13.13      Physical location : 109.044.988 - 109.056.419
Synonym symbol(s) 2410091M23Rik, FLJ10713
DNA
TYPE functioning gene
STRUCTURE 11.43 kb     7 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2823 - 304 - 2007 16990585
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivegerm cell Homo sapiensFetal
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text highly expressed in embryonic stem (ES) cells
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a SAP-like domain and appears to be associated preferentially with transcriptionally active chromatin
  • HOMOLOGY
    interspecies homolog to murine Dppa4
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    text
  • associated with active chromatin
  • basic FUNCTION
  • DPPA2 and DPPA4 are closely linked SAP motif genes restricted to pluripotent cells and the germ line
  • is dispensable for embryonic stem cell identity and germ cell development but essential for embryogenesis
  • modulates the chromatin structure in association with DNA and histone H3 in ES cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • directly binds to both DNA and core histone H3 (associated with DNA via the N-terminal region and histone H3 via the C-terminal region)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • loss of Dppa4 in mice results in late embryonic/perinatal death and striking skeletal defects with partial penetrance