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FLASH GENE
Symbol PDSS2 contributors: mct/npt - updated : 11-05-2021
HGNC name prenyl (decaprenyl) diphosphate synthase, subunit 2
HGNC id 23041
Corresponding disease
COQ10D3 coenzyme Q10 deficiency 3
Location 6q21      Physical location : 107.473.760 - 107.780.779
Synonym name
  • subunit 2 of decaprenyl diphosphate synthase
  • chromosome 6 open reading frame 210
  • candidate tumor suppressor protein
  • Synonym symbol(s) RP11-59I9.3, C6orf210, bA59I9.3, DLP1, COQ10D3, COQ1B
    EC.number 2.5.1.91
    DNA
    TYPE functioning gene
    STRUCTURE 307.02 kb     8 Exon(s)
    regulatory sequence Promoter
    Binding site
    text structure
  • PDSS2 promoter contains binding sites for canonical transcription factors such as Sp1 and GATA-1.
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3568 - 399 - 2005 16262699
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
     pharynx   highly
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • ubiquinone biosynthetic genes family
  • FPP/GGPP synthetase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • second subunit of decaprenyl diphosphate synthase,18,19 which is considered one of the rate-limiting enzymes in CoQ10 biosynthesis
  • has potent anticancer activity in gastric cancer tissues (Chen 2009)
  • encodes one of the two subunits of trans-prenyl diphosphate synthase that is essential for ubiquinone biosynthesis
  • PDSS2 may play a cardio-protective role in atherosclerosis (AS
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    part of the CoQ(10) biosynthetic pathways with ADCK3, PDSS1, COQ2, COQ6, COQ9
    a component
  • heterotetramers composed of newly characterized hDPS1 and hDLP1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • essential role of Sp1 in maintaining the basic constitutive expression of PDSS2, and the pathogenic implication of SP1-mediated PDSS2 transcriptional repression in lung cancer cell
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COQ10D3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in severe Leigh syndrome, nephrotic syndrome, and CoQ10 deficiency in muscle and fibroblasts
    tumoral     --low  
    in non-small cell lung cancer (NSCLC)
    tumoral     --low  
    is a driving factor in hepatocellular carcinoma tumorigenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • decreased levels of PDSS2 mRNA expression may represent a novel biomarker of hepatocellular carcinoma (HCC)
  • Therapy target
    ANIMAL & CELL MODELS
  • during cerebellum development, Pdss2 knockout results in severe cerebellum hypoplasia by impairing cell migration and eliciting ectopic apoptosis, whereas Pdss2 knockout in Purkinje cells at postnatal stages leads to the development of cerebellar ataxia
  • both conditional knockout and missense mutant mice demonstrate deficiencies in tyrosine hydroxylase-positive neurons in the substantia nigra, implicating a pathology similar to sporadic Parkinson's disease (PD)