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Aliases for DDAH2 Gene

Aliases for DDAH2 Gene

  • Dimethylarginine Dimethylaminohydrolase 2 2 3 4 5
  • Dimethylargininase-2 3 4
  • S-Phase Protein 3 4
  • DDAHII 3 4
  • DDAH 3 4
  • NG30 3 4
  • N(G),N(G)-Dimethylarginine Dimethylaminohydrolase 2 3
  • Dimethylarginine Dimethylaminohydrolase II 3
  • Testis Tissue Sperm-Binding Protein Li 54e 3
  • Epididymis Secretory Protein Li 277 3
  • Protein G6a 4
  • EC 4
  • HEL-S-277 3
  • DDAH-2 4
  • G6a 3
  • G6A 4

External Ids for DDAH2 Gene

Previous GeneCards Identifiers for DDAH2 Gene

  • GC06M031758
  • GC06M031465
  • GC06M031799
  • GC06M031803
  • GC06M031694
  • GC06M031481

Summaries for DDAH2 Gene

Entrez Gene Summary for DDAH2 Gene

  • This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be localized to the mitochondria. Alternative splicing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for DDAH2 Gene

DDAH2 (Dimethylarginine Dimethylaminohydrolase 2) is a Protein Coding gene. Diseases associated with DDAH2 include Pre-Eclampsia and Pulmonary Hypertension. Among its related pathways are Metabolism and eNOS activation and regulation. Gene Ontology (GO) annotations related to this gene include amino acid binding and dimethylargininase activity. An important paralog of this gene is DDAH1.

UniProtKB/Swiss-Prot for DDAH2 Gene

  • 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.

Tocris Summary for DDAH2 Gene

Additional gene information for DDAH2 Gene

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDAH2 Gene

Genomics for DDAH2 Gene

GeneHancer (GH) Regulatory Elements for DDAH2 Gene

Promoters and enhancers for DDAH2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J031813 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 -95.3 -95259 25.6 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 C6orf48 HSPA1B HSPA1A HSPA1L GC06P032216 ATF6B DDX39B LY6G5B BAG6 LSM2
GH06J032633 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.6 -906.4 -906387 7.2 HDGF SMAD1 FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF416 ZNF143 ATF7 GC06P032637 GC06P032638 HLA-DQA1 HLA-DQB1 HLA-DQA2 HLA-DRB1 HLA-DQB2 HLA-DRB5 PPT2 HLA-DRB6
GH06J031733 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 0.4 -6.8 -6838 8.5 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 MSH5 CLIC1 MSH5-SAPCD1 DDX39B LY6G5B ATF6B LSM2 SKIV2L CSNK2B GPANK1
GH06J031723 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 0.4 +7.1 7077 0.5 ZBTB48 IKZF1 CBFA2T3 ZBTB33 MPIG6B LY6G6C DDAH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDAH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DDAH2 gene promoter:
  • p53
  • Sp1
  • AREB6

Genomic Locations for DDAH2 Gene

Genomic Locations for DDAH2 Gene
3,581 bases
Minus strand
3,580 bases
Minus strand

Genomic View for DDAH2 Gene

Genes around DDAH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDAH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDAH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for DDAH2 Gene

  • Protein details for DDAH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    N(G),N(G)-dimethylarginine dimethylaminohydrolase 2
    Protein Accession:
    Secondary Accessions:
    • A2BEZ7

    Protein attributes for DDAH2 Gene

    285 amino acids
    Molecular mass:
    29644 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DDAH2 Gene

Post-translational modifications for DDAH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DDAH2 Gene

Domains & Families for DDAH2 Gene

Gene Families for DDAH2 Gene

Protein Domains for DDAH2 Gene


Suggested Antigen Peptide Sequences for DDAH2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DDAH family.
  • Belongs to the DDAH family.
genes like me logo Genes that share domains with DDAH2: view

Function for DDAH2 Gene

Molecular function for DDAH2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
N(omega),N(omega)-dimethyl-L-arginine + H(2)O = dimethylamine + L-citrulline.
GENATLAS Biochemistry:
N-omega,N-omega dimethylarginine dimethylaminohydrolase,endogenous inhibitor of nitric oxide synthesis,encoded by G6A,member of MHC3

Enzyme Numbers (IUBMB) for DDAH2 Gene

Phenotypes From GWAS Catalog for DDAH2 Gene

Gene Ontology (GO) - Molecular Function for DDAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 10493931
GO:0005515 protein binding IPI 16189514
GO:0016403 dimethylargininase activity IEA,TAS --
GO:0016597 amino acid binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with DDAH2: view
genes like me logo Genes that share phenotypes with DDAH2: view

Animal Models for DDAH2 Gene

MGI Knock Outs for DDAH2:

Animal Model Products

  • Taconic Biosciences Mouse Models for DDAH2

miRNA for DDAH2 Gene

miRTarBase miRNAs that target DDAH2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DDAH2 Gene

Localization for DDAH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDAH2 Gene

Cytoplasm. Mitochondrion. Note=Translocates from cytosol to mitochondrion upon IL-1beta stimulation in chondrocytes.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDAH2 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
mitochondrion 3
nucleus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Microtubule organizing center (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005815 microtubule organizing center IDA --
GO:0005829 cytosol IDA,TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with DDAH2: view

Pathways & Interactions for DDAH2 Gene

genes like me logo Genes that share pathways with DDAH2: view

Pathways by source for DDAH2 Gene

Interacting Proteins for DDAH2 Gene

Gene Ontology (GO) - Biological Process for DDAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000052 citrulline metabolic process IDA 10493931
GO:0006525 arginine metabolic process IBA,IEA --
GO:0006527 arginine catabolic process IEA --
GO:0006809 nitric oxide biosynthetic process TAS 10493931
GO:0007263 nitric oxide mediated signal transduction TAS 10493931
genes like me logo Genes that share ontologies with DDAH2: view

No data available for SIGNOR curated interactions for DDAH2 Gene

Drugs & Compounds for DDAH2 Gene

(14) Drugs for DDAH2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved, Investigational Nutra Full agonist, Agonist, Target 0
Water Approved Pharma 0
N,N-dimethylarginine Experimental Pharma 19

(14) Additional Compounds for DDAH2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • DMA
  • HNMe2
  • Me2nh
  • N,N-Dimethylamine
  • Dimethylamine anhydrous
genes like me logo Genes that share compounds with DDAH2: view

Transcripts for DDAH2 Gene

Unigene Clusters for DDAH2 Gene

Dimethylarginine dimethylaminohydrolase 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDAH2 Gene

No ASD Table

Relevant External Links for DDAH2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DDAH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DDAH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDAH2 Gene

This gene is overexpressed in Fetal Brain (6.8) and Nasopharynx (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDAH2 Gene

Protein tissue co-expression partners for DDAH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDAH2 Gene:


SOURCE GeneReport for Unigene cluster for DDAH2 Gene:


mRNA Expression by UniProt/SwissProt for DDAH2 Gene:

Tissue specificity: Detected in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas, and at very low levels in brain.

Evidence on tissue expression from TISSUES for DDAH2 Gene

  • Nervous system(4.7)
  • Blood(4.6)
  • Liver(4.4)
  • Lung(2.9)
  • Heart(2.6)
  • Kidney(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with DDAH2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DDAH2 Gene

Orthologs for DDAH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DDAH2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DDAH2 34 33
  • 99.65 (n)
(Canis familiaris)
Mammalia DDAH2 34 33
  • 91.23 (n)
(Monodelphis domestica)
Mammalia DDAH2 34
  • 90 (a)
(Bos Taurus)
Mammalia DDAH2 34 33
  • 89.82 (n)
(Mus musculus)
Mammalia Ddah2 16 34 33
  • 89.44 (n)
(Rattus norvegicus)
Mammalia Ddah2 33
  • 88.15 (n)
(Anolis carolinensis)
Reptilia DDAH2 34
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ddah2 33
  • 60.78 (n)
(Danio rerio)
Actinopterygii ddah2 34 33
  • 55.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1764 34 35
  • 33 (a)
Species where no ortholog for DDAH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DDAH2 Gene

Gene Tree for DDAH2 (if available)
Gene Tree for DDAH2 (if available)
Evolutionary constrained regions (ECRs) for DDAH2: view image

Paralogs for DDAH2 Gene

Paralogs for DDAH2 Gene

(1) SIMAP similar genes for DDAH2 Gene using alignment to 4 proteins:

  • H0Y7N1_HUMAN
genes like me logo Genes that share paralogs with DDAH2: view

Variants for DDAH2 Gene

Sequence variations from dbSNP and Humsavar for DDAH2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000238815 -- 31,730,980(-) T/C upstream_transcript_variant
rs1000265313 -- 31,731,565(-) G/C upstream_transcript_variant
rs1001367069 -- 31,728,385(-) G/A intron_variant
rs1001808204 -- 31,730,391(-) T/C upstream_transcript_variant
rs1003032668 -- 31,730,243(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DDAH2 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv349349 CNV deletion 16902084
nsv349350 CNV deletion 16902084

Variation tolerance for DDAH2 Gene

Residual Variation Intolerance Score: 37.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDAH2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDAH2 Gene

Disorders for DDAH2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DDAH2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • toxemia of pregnancy
pulmonary hypertension
  • primary pulmonary hypertension
- elite association - COSMIC cancer census association via MalaCards
Search DDAH2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DDAH2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DDAH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDAH2 Gene

Publications for DDAH2 Gene

  1. Identification of two human dimethylarginine dimethylaminohydrolases with distinct tissue distributions and homology with microbial arginine deiminases. (PMID: 10493931) Leiper JM … Vallance P (The Biochemical journal 1999) 2 3 4 22 58
  2. Circulating methylarginine levels and the decline in renal function in patients with chronic kidney disease are modulated by DDAH1 polymorphisms. (PMID: 20010544) Caplin B … Leiper JM (Kidney international 2010) 3 22 44 58
  3. Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes. (PMID: 20209122) Abhary S … Craig JE (PloS one 2010) 3 22 44 58
  4. Polymorphisms in the promoter region of the dimethylarginine dimethylaminohydrolase 2 gene are associated with prevalence of hypertension. (PMID: 19666123) Maas R … Lieb W (Pharmacological research 2009) 3 22 44 58
  5. Common genetic variation in DDAH2 is associated with intracerebral haemorrhage in a Chinese population: a multi-centre case-control study in China. (PMID: 19250061) Bai Y … Hui R (Clinical science (London, England : 1979) 2009) 3 22 44 58

Products for DDAH2 Gene

Sources for DDAH2 Gene

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