Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
    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
    Physical map
    FLJ33977 5q23.1 hypothetical protein FLJ33977 PTMAP2 5 prothymosin, alpha pseudogene 2 (gene sequence 32) LOC391822 5 similar to chromosome 20 open reading frame 147 DMXL1 5q22 Dmx-like 1 GG2-1 LOC389318 5 LOC389318 HSD17B4 5q2 hydroxysteroid (17-beta) dehydrogenase 4 LOC391823 5 similar to 60S RIBOSOMAL PROTEIN L21 LOC340069 5q23.2 hypothetical protein LOC340069 LOC391824 5 similar to tubulin, alpha 6; tubulin alpha 6 LOC348958 5q23.2 mitochondrial ribosomal protein L10 pseudogene LOC51334 5q23.2 mesenchymal stem cell protein DSC54 LOC391825 5 similar to 60S ribosomal protein L23a LOC256233 5q23.2 similar to ribosomal protein L18; 60S ribosomal protein L18 MTF  mitochondrial ferritin FLJ25286 5q23.2 hypothetical protein FLJ25286 LOX 5q23.3-q31.2 lysyl oxidase LOC133923 5q23.2 similar to RIKEN cDNA 4933409D10 LOC153441 5q23.2 similar to RIKEN cDNA 4933409D10 SNCAIP 5q23.1-q23.3 synuclein, alpha interacting protein (synphilin) SNX2 5q23 sorting nexin 2 SNX24 5q23.2 sorting nexing 24 PPIC 5q23.2 peptidylprolyl isomerase C (cyclophilin C) PRDM6 5q21-q23 PR domain containing 6 LOC391826 5 similar to Ubiquitin-like protein SMT3C precursor (Ubiquitin-homology domain protein PIC1) (Ubiquitin-like protein UBL1) (Ubiquitin-related protein SUMO-1) (GAP modifying protein 1) (GMP1) (Sentrin) FLJ36090 5q23.2 hypothetical protein FLJ36090 CSNK1G3 5q23 casein kinase 1, gamma 3 LOC391827 5 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) KIAA1281 5q23.2 KIAA1281 protein LOC391828 5 similar to ribosomal protein L28 LOC391829 5 similar to High mobility group protein 1-like 10 (HMG-1L10) LOC389319 5 LOC389319 NS3TP2 5q23.3 HCV NS3-transactivated protein 2 ALDH7A1 5q31 aldehyde dehydrogenase 7 family, member A1 PHAX 5q23.3 likely ortholog of mouse phosphorylated adaptor for RNA export LOC133609 5q23.3 similar to 60S acidic ribosomal protein P1 LOC389320 5 hypothetical gene supported by AK131015 LOC285008 5q23.3 hypothetical gene supported by BC028282; BC028282; BC028282 LMNB1 5q23.3-q31.1 lamin B1 LOC389321 5 LOC389321 MGC48332 5q23.3 hypothetical protein MGC48332
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3027 - 595 - Du, Vasan (2009)
    - - 2374 - 313 - Du
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselcapillary    Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothvessel highly Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    Muscularmyocyte Homo sapiens
    cell lineage vascular precursors
    cell lines
    at STAGE
  • 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
  • PR-domain protein family
  • PRDM family of transcriptional repressors
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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
    a component
    DNA binding
    small molecule metal binding,
  • Zn2+
  • protein
  • functions as a transcriptional repressor of myocardin, GATA6, smooth muscle cell actins, and myosins
  • cell & other
    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
    Therapy target