Human Gene DDAH2 (uc011hbc.2) Description and Page Index
  Description: Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.
RefSeq Summary (NM_013974): This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF070667.1, AF087894.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083 [ECO:0000348] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: chr6_mann_hap4:3,037,707-3,040,929 Size: 3,223 Total Exon Count: 7 Strand: -
Coding Region
   Position: chr6_mann_hap4:3,037,904-3,039,828 Size: 1,925 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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-  Comments and Description Text from UniProtKB
  ID: DDAH2_HUMAN
DESCRIPTION: RecName: Full=N(G),N(G)-dimethylarginine dimethylaminohydrolase 2; Short=DDAH-2; Short=Dimethylarginine dimethylaminohydrolase 2; EC=3.5.3.18; AltName: Full=DDAHII; AltName: Full=Dimethylargininase-2; AltName: Full=Protein G6a; AltName: Full=S-phase protein;
FUNCTION: Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation.
CATALYTIC ACTIVITY: N(omega),N(omega)-dimethyl-L-arginine + H(2)O = dimethylamine + L-citrulline.
INTERACTION: Q15645:TRIP13; NbExp=3; IntAct=EBI-749139, EBI-358993;
SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion. Note=Translocates from cytosol to mitochondrion upon IL-1beta stimulation in chondrocytes.
TISSUE SPECIFICITY: Detected in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas, and at very low levels in brain.
SIMILARITY: Belongs to the DDAH family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: DDAH2
CDC HuGE Published Literature: DDAH2
Positive Disease Associations: Cerebral Hemorrhage|Stroke , hypertension , vasopressor infusion requirement
Related Studies:
  1. Cerebral Hemorrhage|Stroke
    Yongyi Bai , et al. Clinical science 2009 117(7):273-9, Common genetic variation in DDAH2 is associated with intracerebral haemorrhage in a Chinese population: a multi-centre case-control study in China., Clinical science 2009 117(7):273-9. [PubMed 19250061]
  2. hypertension
    Renke Maas , et al. Pharmacological research 2009 60(6):488-93, Polymorphisms in the promoter region of the dimethylarginine dimethylaminohydrolase 2 gene are associated with prevalence of hypertension., Pharmacological research 2009 60(6):488-93. [PubMed 19666123]
  3. vasopressor infusion requirement
    Ryan, R. et al. 2006, Gene polymorphism and requirement for vasopressor infusion after cardiac surgery, Ann Thorac Surg 2006 82(3) 895-901. [PubMed 16928504]
    Vasopressor requirement after surgery may be related to an interaction of genotype, preoperative morbidity, and prolonged surgery.
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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -108.34276-0.393 Picture PostScript Text
3' UTR -57.92197-0.294 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003198 - Amidino_trans

Pfam Domains:
PF02274 - Amidinotransferase

SCOP Domains:
55909 - Pentein

ModBase Predicted Comparative 3D Structure on O95865
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  AK026191 - Homo sapiens cDNA: FLJ22538 fis, clone HRC13212, highly similar to AF070667 Homo sapiens NG,NG-dimethylarginine dimethylaminohydrolase homolog mRNA.
BC001435 - Homo sapiens dimethylarginine dimethylaminohydrolase 2, mRNA (cDNA clone MGC:1351 IMAGE:3138832), complete cds.
AK098671 - Homo sapiens cDNA FLJ25805 fis, clone TST07191, highly similar to NG,NG-DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 2 (EC 3.5.3.18).
AF070667 - Homo sapiens NG,NG-dimethylarginine dimethylaminohydrolase homolog mRNA, complete cds.
AF087894 - Homo sapiens S-phase protein mRNA, complete cds.
AK310024 - Homo sapiens cDNA, FLJ17066.
FJ224290 - Homo sapiens epididymis secretory protein Li 277 (HEL-S-277) mRNA, complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: A2BEZ7, DDAH, DDAH2_HUMAN, G6A, NG30, NM_013974, NP_039268, O95865
UCSC ID: uc011hbc.2
RefSeq Accession: NM_013974
Protein: O95865 (aka DDAH2_HUMAN