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
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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=22.214.171.124; 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
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.
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.
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.
Vasopressor requirement after surgery may be related to an interaction of genotype, preoperative morbidity, and prolonged surgery.
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.
ModBase Predicted Comparative 3D Structure on O95865
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.