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    DDAH2 DDAH family member 2, ADMA-independent [ Homo sapiens (human) ]

    Gene ID: 23564, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DDAH2provided by HGNC
    Official Full Name
    DDAH family member 2, ADMA-independentprovided by HGNC
    Primary source
    HGNC:HGNC:2716
    See related
    Ensembl:ENSG00000213722 MIM:604744; AllianceGenome:HGNC:2716
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G6a; DDAH; NG30; DDAHII; HEL-S-277
    Summary
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 29.0), fat (RPKM 28.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DDAH2 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31727040..31730263, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31580073..31583296, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31694817..31698040, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene LY6G6F-LY6G6D readthrough Neighboring gene lymphocyte antigen 6 family member G6D Neighboring gene lymphocyte antigen 6 family member G6C Neighboring gene megakaryocyte and platelet inhibitory receptor G6b Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:31701615-31702814 Neighboring gene chloride intracellular channel 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31704508-31705382 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31707224-31707854 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31707855-31708486 Neighboring gene MSH5-SAPCD1 readthrough (NMD candidate) Neighboring gene mutS homolog 5 Neighboring gene RNA, U6 small nuclear 850, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Distribution of dimethylarginine-dimethylaminohydrolase-II (DDAH2) gene polymorphism in hemodialysis patients. Thaha M, et al. Acta Med Indones, 2013 Apr. PMID 23770786
    2. Gene transfer of dimethylarginine dimethylaminohydrolase-2 improves the impairments of DDAH/ADMA/NOS/NO pathway in endothelial cells induced by lysophosphatidylcholine. Feng M, et al. Eur J Pharmacol, 2008 Apr 14. PMID 18342305
    3. Involvement of dimethylarginine dimethylaminohydrolase-2 in visfatin-enhanced angiogenic function of endothelial cells. Xiao J, et al. Diabetes Metab Res Rev, 2009 Mar. PMID 19229883
    4. Common genetic variation in DDAH2 is associated with intracerebral haemorrhage in a Chinese population: a multi-centre case-control study in China. Bai Y, et al. Clin Sci (Lond), 2009 Aug 17. PMID 19250061
    5. Protective role of DDAH2 (rs805304) gene polymorphism in patients with myocardial infarction. Pérez-Hernández N, et al. Exp Mol Pathol, 2014 Dec. PMID 25236572

    See all (95) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Early and late-onset preeclampsia: effects of DDAH2 polymorphisms on ADMA levels and association with DDAH2 haplotypes.
      Title: Early and late-onset preeclampsia: effects of DDAH2 polymorphisms on ADMA levels and association with DDAH2 haplotypes.
    2. Assessment of DDAH1 and DDAH2 Contributions to Psychiatric Disorders via In Silico Methods.
      Title: Assessment of DDAH1 and DDAH2 Contributions to Psychiatric Disorders via In Silico Methods.
    3. Polymorphism (-499C/G) in DDAH2 promoter may act as a protective factor for metabolic syndrome: A case-control study in Azar-Cohort population.
      Title: Polymorphism (-499C/G) in DDAH2 promoter may act as a protective factor for metabolic syndrome: A case-control study in Azar-Cohort population.
    4. DDAH2 rs9267551 polymorphism is significantly associated with myocardial infarction in type 2 diabetes mellitus patients of European ancestry.
      Title: A functional variant of the dimethylarginine dimethylaminohydrolase-2 gene is associated with myocardial infarction in type 2 diabetic patients.
    5. The presence of the rs805305 SNP in the DDAH2 gene was determined using genomic DNA extraction from buffy coat and whole blood samples by LGC group (Hertfordshire, UK).
      Title: Evidence for a protective role for the rs805305 single nucleotide polymorphism of dimethylarginine dimethylaminohydrolase 2 (DDAH2) in septic shock through the regulation of DDAH activity.
    6. genetic variations in the DDAH2 gene may influence the ADMA concentration and erythropoietin resistance in MHD patients
      Title: Association of the -449GC and -1151AC polymorphisms in the DDAH2 gene with asymmetric dimethylarginine and erythropoietin resistance in Chinese patients on maintenance hemodialysis.
    7. The main finding from this study was that it demonstrated that the C-allele of rs3087894 in DDAH1 is a risk factor for hypertension in the Kazakh group but a protective factor in the Uygur group. In addition, we did not find any genotype of DDAH1 and DDAH2 associated with hypertension in the Han group.
      Title: Association between variation in the genes DDAH1 and DDAH2 and hypertension among Uygur, Kazakh and Han ethnic groups in China.
    8. Exogenous human DDAH2 gene promotes differentiation of rabbit bone marrow-derived endothelial progenitor cells into mature endothelial cells.
      Title: Determine exogenous human DDAH2 gene function in rabbit bone marrow-derived endothelial progenitor cells in vitro.
    9. expression of DDAH2 is associated with invasiveness of lung adenocarcinoma via tumor angiogenesis
      Title: Dimethylarginine dimethylaminohydrolase 2 promotes tumor angiogenesis in lung adenocarcinoma.
    10. Inhibiting the expression of DDAH1, but not DDAH2, resulted in a significant increase in the sensitivity of the EVT cell line SGHPL-4 to tumour necrosis factor related apoptosis inducing ligand (TRAIL) induced apoptosis
      Title: Inhibition of DDAH1, but not DDAH2, results in apoptosis of a human trophoblast cell line in response to TRAIL.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables dimethylargininase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables dimethylargininase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    NOT enables dimethylargininase activity IKR
    Inferred from Key Residues
    more info
    		 PubMed 
    NOT enables dimethylargininase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    NOT involved_in citrulline metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of nitric oxide biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    putative hydrolase DDAH2
    Names
    S-phase protein
    dimethylargininase-2
    dimethylarginine dimethylaminohydrolase 2
    dimethylarginine dimethylaminohydrolase II
    epididymis secretory protein Li 277
    inactive N(G),N(G)-dimethylarginine dimethylaminohydrolase 2
    inactive dimethylarginine dimethylaminohydrolase 2
    n(G),N(G)-dimethylarginine dimethylaminohydrolase 2
    testis tissue sperm-binding protein Li 54e
    NP_001289936.1
    NP_001289937.1
    NP_039268.1
    XP_011512750.1
    XP_054185725.1
    XP_054186217.1
    XP_054186508.1
    XP_054186760.1
    XP_054186997.1
    XP_054187263.1
    XP_054210944.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001303007.2 → NP_001289936.1  putative hydrolase DDAH2

      See identical proteins and their annotated locations for NP_001289936.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AK026191
      Consensus CDS
      CCDS4718.1
      UniProtKB/Swiss-Prot
      A2BEZ7, O95865
      UniProtKB/TrEMBL
      Q5SRR8, V9HW53
      Related
      ENSP00000364945.2, ENST00000375789.7
      Conserved Domains (1) summary
      cl19186
      Location:62 → 277
      Amidinotransf; Amidinotransferase

    2. NM_001303008.2 → NP_001289937.1  putative hydrolase DDAH2

      See identical proteins and their annotated locations for NP_001289937.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AL662899, BF338733, CB242623, EB387244
      Consensus CDS
      CCDS4718.1
      UniProtKB/Swiss-Prot
      A2BEZ7, O95865
      UniProtKB/TrEMBL
      Q5SRR8, V9HW53
      Related
      ENSP00000395759.2, ENST00000436437.2
      Conserved Domains (1) summary
      cl19186
      Location:62 → 277
      Amidinotransf; Amidinotransferase

    3. NM_013974.3 → NP_039268.1  putative hydrolase DDAH2

      See identical proteins and their annotated locations for NP_039268.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment of the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AA297871, AF070667, AK310024, CB242623
      Consensus CDS
      CCDS4718.1
      UniProtKB/Swiss-Prot
      A2BEZ7, O95865
      UniProtKB/TrEMBL
      Q5SRR8, V9HW53
      Related
      ENSP00000364949.3, ENST00000375792.7
      Conserved Domains (1) summary
      cl19186
      Location:62 → 277
      Amidinotransf; Amidinotransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31727040..31730263 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514448.3 → XP_011512750.1  putative hydrolase DDAH2 isoform X1

      See identical proteins and their annotated locations for XP_011512750.1

      UniProtKB/Swiss-Prot
      A2BEZ7, O95865
      UniProtKB/TrEMBL
      Q5SRR8, V9HW53
      Related
      ENSP00000397466.2, ENST00000416410.6
      Conserved Domains (1) summary
      cl19186
      Location:62 → 277
      Amidinotransf; Amidinotransferase

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3204328..3207551 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329750.1 → XP_054185725.1  putative hydrolase DDAH2 isoform X1

      UniProtKB/Swiss-Prot
      A2BEZ7, O95865
      UniProtKB/TrEMBL
      V9HW53

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2974801..2978024 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330242.1 → XP_054186217.1  putative hydrolase DDAH2 isoform X1

      UniProtKB/Swiss-Prot
      A2BEZ7, O95865
      UniProtKB/TrEMBL
      V9HW53

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      3032087..3035310 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330533.1 → XP_054186508.1  putative hydrolase DDAH2 isoform X1

      UniProtKB/Swiss-Prot
      A2BEZ7, O95865
      UniProtKB/TrEMBL
      V9HW53

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      3068915..3072138 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330785.1 → XP_054186760.1  putative hydrolase DDAH2 isoform X1

      UniProtKB/Swiss-Prot
      A2BEZ7, O95865
      UniProtKB/TrEMBL
      V9HW53

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2982851..2986074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331022.1 → XP_054186997.1  putative hydrolase DDAH2 isoform X1

      UniProtKB/Swiss-Prot
      A2BEZ7, O95865
      UniProtKB/TrEMBL
      V9HW53

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      3026336..3029559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331288.1 → XP_054187263.1  putative hydrolase DDAH2 isoform X1

      UniProtKB/Swiss-Prot
      A2BEZ7, O95865
      UniProtKB/TrEMBL
      V9HW53

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31580073..31583296 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354969.1 → XP_054210944.1  putative hydrolase DDAH2 isoform X1

      UniProtKB/Swiss-Prot
      A2BEZ7, O95865
      UniProtKB/TrEMBL
      V9HW53
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95865.1 GenPept UniProtKB/Swiss-Prot:O95865

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