Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DDAH2 Gene

Aliases for DDAH2 Gene

  • Dimethylarginine Dimethylaminohydrolase 2 2 3 4 5
  • Dimethylargininase-2 3 4
  • S-Phase Protein 3 4
  • EC 3.5.3.18 4 58
  • DDAHII 3 4
  • DDAH 3 4
  • NG30 3 4
  • G6a 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
  • HEL-S-277 3
  • DDAH-2 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 Pulmonary Hypertension. Among its related pathways are eNOS activation and regulation and Metabolism. 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

Regulatory Elements for DDAH2 Gene

Enhancers for DDAH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H031829 1.4 ENCODE dbSUPER 10.9 -103.5 -103540 9 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A MEF2D GLIS1 NBN ATF6B LY6G5B DDX39B LSM2 CSNK2B MSH5 SKIV2L BAG6 VARS GPANK1
GH06H032633 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.6 -906.4 -906388 7 HDGF FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF416 ZNF143 ATF7 RUNX3 HLA-DQA1 HLA-DQB1 HLA-DQA2 HLA-DRB1 HLA-DQB2 HLA-DRB5 PPT2 HLA-DRB6 HCG25 VPS52
GH06H031725 1.6 Ensembl ENCODE dbSUPER 0.7 +2.0 2037 5 HNRNPUL1 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B DDX39B LY6G5B ATF6B LSM2 SKIV2L PBX2 CSNK2B NFKBIL1 DXO MSH5
GH06H031733 1.9 FANTOM5 ENCODE dbSUPER 0.4 -6.8 -6838 8 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 SP3 NFYC ZC3H11A LY6G5B ATF6B DDX39B LSM2 CSNK2B GPANK1 VARS NFKBIL1 SKIV2L MSH5
GH06H031723 0.8 Ensembl ENCODE 0.4 +7.1 7078 0 ZBTB48 IKZF1 ID3 ZBTB33 LY6G6C DDAH2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DDAH2 on UCSC Golden Path with GeneCards custom track

Promoters for DDAH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195587 917 1401 HNRNPUL1 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

Transcription factor binding sites by QIAGEN in the DDAH2 gene promoter:

Genomic Location for DDAH2 Gene

Chromosome:
6
Start:
31,727,037 bp from pter
End:
31,730,617 bp from pter
Size:
3,581 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

Protein Domains for DDAH2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DDAH2 Gene

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

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

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

CRISPR Products

miRNA for DDAH2 Gene

miRTarBase miRNAs that target DDAH2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DDAH2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 IDA 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 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 Nutra Full agonist, Agonist, Target 0
Water Approved Pharma 0
N,N-dimethylarginine Experimental Pharma 17

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dimethylamine
  • Dimethylamine
  • Dimethylamine anhydrous
  • Dimethylamine anhydrous (dot)
  • Dimethylamine aqueous solution
  • Dimethylamine hydrobromide
124-40-3
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DDAH2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for DDAH2 Gene

GeneLoc Exon Structure for
DDAH2
ECgene alternative splicing isoforms for
DDAH2

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, PaxDb, 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:

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

Primer Products

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 33 34
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia DDAH2 33 34
  • 91.23 (n)
oppossum
(Monodelphis domestica)
Mammalia DDAH2 34
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DDAH2 33 34
  • 89.82 (n)
mouse
(Mus musculus)
Mammalia Ddah2 33 16 34
  • 89.44 (n)
rat
(Rattus norvegicus)
Mammalia Ddah2 33
  • 88.15 (n)
lizard
(Anolis carolinensis)
Reptilia DDAH2 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddah2 33
  • 60.78 (n)
zebrafish
(Danio rerio)
Actinopterygii ddah2 33 34
  • 55.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1764 35 34
  • 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

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

Paralogs for DDAH2 Gene

Paralogs for DDAH2 Gene

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

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 Sequence Context AA Info Type
rs1000238815 -- 31,730,980(+) GTGAA(C/T)CCCCG upstream-variant-2KB, reference, synonymous-codon
rs1000265313 -- 31,731,565(+) CCAAA(C/G)TGTTG intron-variant, upstream-variant-2KB
rs1001367069 -- 31,728,385(+) TCAGC(A/G)GGCGC intron-variant
rs1001808204 -- 31,730,391(+) AGATC(C/T)GGCCG downstream-variant-500B, upstream-variant-2KB
rs1003032668 -- 31,730,243(+) CGGCT(C/G)CGGGG downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links for DDAH2 Gene

Human Gene Mutation Database (HGMD)
DDAH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDAH2

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

Disorders for DDAH2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
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

Relevant External Links for DDAH2

Genetic Association Database (GAD)
DDAH2
Human Genome Epidemiology (HuGE) Navigator
DDAH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDAH2
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 60
  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 45 60
  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 45 60
  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 45 60
  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 45 60

Products for DDAH2 Gene

Sources for DDAH2 Gene

Content
Loading form....