DDAH2 (Dimethylarginine Dimethylaminohydrolase 2)
Key regulator of nitric oxide synthesis and cardiovascular homeostasis
Gene Information Card
| Symbol | DDAH2 |
|---|---|
| Full Name | Dimethylarginine dimethylaminohydrolase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 23564 ncbi.nlm.nih.gov/gene/23564 |
| Ensembl ID | ENSG00000204264 |
| UniProt ID | O95865 |
| OMIM ID | 604743 |
| HGNC ID | 2716 |
| Aliases | DDAHII, G6a, NG30 |
Description
DDAH2 encodes dimethylarginine dimethylaminohydrolase 2, an enzyme that degrades asymmetric dimethylarginine (ADMA), an endogenous inhibitor of nitric oxide synthase. By regulating ADMA levels, DDAH2 plays a critical role in nitric oxide production, influencing vascular tone, endothelial function, and cardiovascular health. The gene is located in the major histocompatibility complex (MHC) class III region on chromosome 6.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular diseases | Reduced DDAH2 activity leads to elevated ADMA, impairing nitric oxide synthesis and promoting endothelial dysfunction. | ClinVar, literature |
| Preeclampsia | Altered DDAH2 expression in placenta may contribute to impaired nitric oxide signaling. | ClinVar, literature |
| Chronic kidney disease | Accumulation of ADMA due to reduced DDAH2 activity exacerbates renal injury. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | High | High expression in renal tissues |
| Liver | Medium | Moderate expression |
| Heart | Medium | Moderate expression |
| Lung | Low | Low expression |
| Brain | Low | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Endothelial cells | High | Key role in vascular function |
| Hepatocytes | Medium | Hepatic metabolism |
| Renal tubular cells | High | Renal ADMA clearance |
| Macrophages | Low | Immune response modulation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs805304 | SNP | ~20% (global) | May affect gene expression and ADMA levels |
| rs2272592 | SNP | ~15% (global) | Associated with altered enzyme activity |
| c.356C>T (p.Pro119Leu) | Missense | Rare | Potential loss of function, reduced ADMA degradation |
Mutation functional classification
Loss of Function (LOF)
Missense variants like p.Pro119Leu may reduce catalytic activity, leading to ADMA accumulation and endothelial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • dimethylargininase activity | • hydrolase activity |
| • protein homodimerization activity | • response to lipopolysaccharide |
| • nitric oxide biosynthetic process | • arginine metabolic process |
Pathways
• Arginine and proline metabolism
• Nitric oxide signaling pathway
• ADMA metabolism
Protein Summary
DDAH2 is a 285-amino acid protein that exists as a homodimer. It catalyzes the hydrolysis of ADMA to L-citrulline and dimethylamine, thereby regulating cellular ADMA concentrations. The enzyme is predominantly cytosolic and expressed in tissues with high nitric oxide activity. Its activity is essential for maintaining normal endothelial function and vascular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDAH2 Knockout KYSE-30 Cell Line | EDJ-KZ18 | Human | 23564 | Details Get a Quote |
| DDAH2 Knockout HEK293 Cell Line | EDJ-KQ51117 | Human | 23564 | Details Get a Quote |
| DDAH2 Knockout HeLa Cell Line | EDJ-KQ55772 | Human | 23564 | Details Get a Quote |
| DDAH2 Knockout A-549 Cell Line | EDJ-KQ64267 | Human | 23564 | Details Get a Quote |
| DDAH2 Knockout HCT 116 Cell Line | EDJ-KQ72714 | Human | 23564 | Details Get a Quote |
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