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FLASH GENE
Symbol PRDM6 contributors: mct/npt - updated : 29-06-2016
HGNC name PR domain containing 6
HGNC id 9350
Corresponding disease
PDA2 patent ductus arteriosus 2
Location 5q23.2      Physical location : 122.424.840 - 122.523.744
Synonym name
  • PR-domain zinc finger protein 6
  • positive regulatory domain family protein 6
  • putative histone-lysine N-methyltransferase PRDM6
  • Synonym symbol(s) PRISM
    EC.number 2.1.1.43
    DNA
    TYPE functioning gene
    STRUCTURE 98.90 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3027 - 595 - Du, Vasan (2009)
    - - 2374 - 313 - Du
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselcapillary    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothvessel highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    Muscularmyocyte Homo sapiens
    cell lineage vascular precursors
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal PR domain, PR/SET domain (participation of PR domains in histone methyltransferase activity) (Wu 2008)
  • seven zinc finger DNA binding motifs, C2H2 type
  • four Krüppel-like zinc fingers at the C-terminus
  • HOMOLOGY
    Homologene
    FAMILY
  • PR-domain protein family
  • PRDM family of transcriptional repressors
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    text localized to the nucleus (Davis 2006)
    basic FUNCTION
  • acts as a transcriptional repressor by interacting with class I histone deacetylases and the G9a histone methyltransferas
  • acts as a novel epigenetic regulator of SMC phenotypic plasticity by suppressing differentiation and maintaining the proliferative potential of vascular SMCs
  • acts as a novel epigenetic regulator of smooth muscle cells (SMC) phenotypic plasticity by suppressing differentiation and maintaining the proliferative potential of vascular SMCs (Davis 2006)
  • has differential effects in endothelial cells and smooth muscle cells, and may play a role in vascular precursor differentiation and survival by modulating local chromatin-remodeling activity within hematovascular subpopulations during development (Wu 2008)
  • is a factor that is essential for the physiological control of cardiovascular development
  • encodes a nuclear protein that is specific to vascular smooth muscle cells (VSMC), has histone methyl transferase activities, and acts as a transcriptional suppressor of contractile proteins
  • maintains VSMCs in an undifferentiated state during embryonic life, a function most likely required for their proliferation
  • plays a key role in maintaining VSMCs in an undifferentiated stage in order to promote their proliferation and that its loss of activity results in premature differentiation and impaired remodeling of the ductus arteriosus (DA)
  • wild-type PRDM6 reduced dimethylation of H3K9 and increased dimethylation of H4K20, whereas both variant PRDM6 proteins had completely opposite effects
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • functions as a transcriptional repressor of myocardin, GATA6, smooth muscle cell actins, and myosins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PDA2
    Susceptibility to elevated systolic blood pressure (SBP) with intracranial aneurysm (IA)
    Variant & Polymorphism other
  • common variants in PRDM6 can contribute to altered vascular wall structure, hence increasing SBP and predisposing to IA
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS