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] See more...

Aliases for DDAH2 Gene

Aliases for DDAH2 Gene

  • Dimethylarginine Dimethylaminohydrolase 2 2 3 4 5
  • N(G),N(G)-Dimethylarginine Dimethylaminohydrolase 2 3 4
  • Dimethylargininase-2 3 4
  • S-Phase Protein 3 4
  • EC 3.5.3.18 4 52
  • DDAHII 3 4
  • DDAH 3 4
  • NG30 3 4
  • Dimethylarginine Dimethylaminohydrolase II 3
  • Testis Tissue Sperm-Binding Protein Li 54e 3
  • Epididymis Secretory Protein Li 277 3
  • Protein G6a 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 Chronic Kidney Disease and Pre-Eclampsia. Among its related pathways are Metabolism and Metabolism of nitric oxide. 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 Summary 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 , Rfam classification and piRNA Summary for DDAH2 Gene

Genomics for DDAH2 Gene

GeneHancer (GH) Regulatory Elements for DDAH2 Gene

Promoters and enhancers for DDAH2 Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDAH2

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

Genomic Locations for DDAH2 Gene

Genomic Locations for DDAH2 Gene
chr6:31,727,037-31,730,617
(GRCh38/hg38)
Size:
3,581 bases
Orientation:
Minus strand
chr6:31,694,815-31,698,394
(GRCh37/hg19)
Size:
3,580 bases
Orientation:
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:
    O95865-DDAH2_HUMAN
    Recommended name:
    N(G),N(G)-dimethylarginine dimethylaminohydrolase 2
    Protein Accession:
    O95865
    Secondary Accessions:
    • A2BEZ7

    Protein attributes for DDAH2 Gene

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

neXtProt entry for DDAH2 Gene

Selected DME Specific Peptides for DDAH2 Gene

O95865:
  • SHLRGLCGMGGPRTVVAGSS
  • DVLFTGREFFVGLSK
  • DENATLDG
  • AGLPALDLAKAQREHGVLGGKLRQRLGLQL
  • AVSTVPV

Post-translational modifications for DDAH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DDAH2 Gene

Gene Families for DDAH2 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DDAH2 Gene

Blocks:
  • Amidinotransferase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DDAH2 Gene

GenScript: Design optimal peptide antigens:
  • Dimethylarginine dimethylaminohydrolase 2 (A2ABS5_HUMAN)
  • S-phase protein (DDAH2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95865

UniProtKB/Swiss-Prot:

DDAH2_HUMAN :
  • Belongs to the DDAH family.
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:
Reaction=H2O + N(omega),N(omega)-dimethyl-L-arginine = dimethylamine + L-citrulline; Xref=Rhea:RHEA:17305, ChEBI:CHEBI:15377, ChEBI:CHEBI:57743, ChEBI:CHEBI:58040, ChEBI:CHEBI:58326; EC=3.5.3.18; Evidence=. ;.
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 IDA,IEA 10493931
GO:0016597 amino acid binding IEA,IBA 21873635
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

CRISPR Products

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

COMPARTMENTS
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
cytosol 5
cytoskeleton 4
mitochondrion 4
nucleus 3
plasma membrane 2
extracellular 2
peroxisome 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Centriolar satellite (2)
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:0034451 centriolar satellite IDA --
genes like me logo Genes that share ontologies with DDAH2: view

Pathways & Interactions for DDAH2 Gene

PathCards logo

SuperPathways for DDAH2 Gene

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

Pathways by source 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 IEA,IBA 21873635
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 Target 0
Water Approved Pharma 0
N,N-dimethylarginine Experimental Pharma 21

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dimethylamine
  • DMA
  • HNMe2
  • Me2nh
  • N,N-Dimethylamine
  • Dimethylamine anhydrous
124-40-3
genes like me logo Genes that share compounds with DDAH2: view

Transcripts for DDAH2 Gene

mRNA/cDNA for DDAH2 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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
DDAH2

Expression for DDAH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDAH2

SOURCE GeneReport for Unigene cluster for DDAH2 Gene:

Hs.247362

mRNA Expression by UniProt/SwissProt for DDAH2 Gene:

O95865-DDAH2_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia DDAH2 31 30
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DDAH2 31 30
  • 91.23 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DDAH2 31
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DDAH2 31 30
  • 89.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ddah2 17 31 30
  • 89.44 (n)
rat
(Rattus norvegicus)
Mammalia Ddah2 30
  • 88.15 (n)
lizard
(Anolis carolinensis)
Reptilia DDAH2 31
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddah2 30
  • 60.78 (n)
zebrafish
(Danio rerio)
Actinopterygii ddah2 31 30
  • 55.85 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1764 31 32
  • 33 (a)
OneToMany
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

ENSEMBL:
Gene Tree for DDAH2 (if available)
TreeFam:
Gene Tree for DDAH2 (if available)
Aminode:
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:

  • DDAH2_HUMAN
  • H0Y7N1_HUMAN
  • Q5SRR8_HUMAN
  • Q5SSV3_HUMAN
genes like me logo Genes that share paralogs with DDAH2: view

Variants for DDAH2 Gene

Additional dbSNP identifiers (rs#s) for DDAH2 Gene

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)
DDAH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDAH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDAH2 Gene

Disorders for DDAH2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
chronic kidney disease
  • chronic kidney failure
pre-eclampsia
  • toxemia of pregnancy
cardiovascular system disease
  • disease of subdivision of hemolymphoid system
arteriosclerosis
  • arteriosclerotic vascular disease
hypertension, essential
  • eht
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 54
  2. 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 23 41 54
  3. 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 23 41 54
  4. 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 23 41 54
  5. 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 23 41 54

Products for DDAH2 Gene

Sources for DDAH2 Gene