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FLASH GENE
Symbol DDAH2 contributors: mct - updated : 07-10-2015
HGNC name dimethylarginine dimethylaminohydrolase 2
HGNC id 2716
Location 6p21.33      Physical location : 2.980.386 - 31.698.039
Synonym name
  • S-phase protein
  • dimethylargininase-2
  • epididymis secretory protein Li 277
  • Synonym symbol(s) G6a, NG30, DDAHII, HEL-S-277, DDAH
    EC.number 3.5.3.18
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text encoded by G6A,member of MHC3
    STRUCTURE 3.23 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure a core promoter region and transcription factor sites playing an important role in the regulation of DDAH2 expression
    MAPPING cloned Y linked N status confirmed
    Physical map
    HCP5 6p21.3 HLA complex P5 MICB 6p21.3 MHC class I polypeptide-related sequence B PPIP9 6p21.3 peptidylprolyl isomerase (cyclophilin) pseudogene 9 BAT1 6p21.33 HLA-B associated transcript 1 ATP6V1G2 6p21.3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2 NFKBIL1 6p21.3 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 LTA 6p21.3 lymphotoxin alpha (TNF superfamily, member 1) TNF 6p21.3 tumor necrosis factor (TNF superfamily, member 2) LTB 6p21.3 lymphotoxin beta (TNF superfamily, member 3) LST1 6p21.3 leukocyte specific transcript 1 NCR3 6p21.3 natural cytotoxicity triggering receptor 3 AIF1 6p21.3 allograft inflammatory factor 1 BAT2 6p21.33 HLA-B associated transcript 2 BAT3 6p21.33 HLA-B associated transcript 3 APOM 6p21.31 apolipoprotein M C6orf47 6p21.3 chromosome 6 open reading frame 47 BAT4 6p21.33 HLA-B associated transcript 4 CSNK2B 6p21.3 casein kinase 2, beta polypeptide LY6G5B 6p21.3 lymphocyte antigen 6 complex, locus G5B LY6G5C 6p21.3 lymphocyte antigen 6 complex, locus G5C BAT5 6p21.33 HLA-B associated transcript 5 LY6G6D 6p21.3 lymphocyte antigen 6 complex, locus G6D LY6G6E 6p21.3 lymphocyte antigen 6 complex, locus G6E LY6G6C 6p21.3 lymphocyte antigen 6 complex, locus G6C C6orf25 6p21.3 chromosome 6 open reading frame 25 DDAH2 6p21.3 dimethylarginine dimethylaminohydrolase 2 CLIC1 6p21.3 chloride intracellular channel 1 MSH5 6p21.3 mutS homolog 5 (E. coli) C6orf27 6p21.31 chromosome 6 open reading frame 27 VARS2 6p21.3 valyl-tRNA synthetase 2 LSM2 6p21.3 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) HSPA1L 6p21.3 heat shock 70kDa protein 1-like HSPA1A 6p21.3 heat shock 70kDa protein 1A HSPA1B 6p21.3 heat shock 70kDa protein 1B
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1353 - 285 - -
    6 - 2178 - 285 - -
    7 - 1278 - 285 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
     thymus    
    Cardiovascularheart    
    Lymphoid/Immunelymph node    
    Urinarykidney    
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage    Homo sapiens
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    not specificchondrocyte Homo sapiens
    cell lineage
    cell lines endothelial cell line
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    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