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FLASH GENE
Symbol DDAH2 contributors: mct - updated : 07-10-2015
HGNC name dimethylarginine dimethylaminohydrolase 2
HGNC id 2716
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
hexapeptide repeat containing transferase, cell attachment sequence RGD tripeptides
mono polymer monomer
HOMOLOGY
interspecies homolog to murine Ddah2
Homologene
FAMILY DDAH family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
intracellular,cytoplasm,cytosolic
intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
basic FUNCTION
  • N-omega dimethylarginine dimethylaminohydrolase, regulating cellular concentrations of dimethylarginines
  • important regulatory role for DDAH1, DDAH2 in the maintenance of endothelial function
  • DDAH2 could play an important role in IL1B-induced NO production and in osteoarthritis pathogenesis
  • regulates the function of endothelial progenitor cells (EPCs)
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    text inhibitor of retrite oxide generation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • modulation of RAC1 activity by ADMA/DDAH1, ADMA/ DDAH2, regulates pulmonary endothelial barrier function
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    by hypermethylation in DDAH2 promoter is positively correlated to the dysfunction of endothelial progenitor cells (EPCs) in coronary artery disease patients
    Susceptibility
  • to risk of developing myocardial infarction (MI)
  • to chronic kidney disease
    • Variant & Polymorphism SNP
  • rs805304 C allele was associated with decreased risk of MI and decreased risk of obesity
  • rs9267551 functional variant of the DDAH2 gene is associated with chronic kidney disease with carriers of the C allele having a lower risk of renal dysfunction independently from several confounders
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS