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

Gene ID: 23564, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31727040..31730263, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31580073..31583296, complement)
105.20220307 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
  • 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. Polymorphism (-499C/G) in DDAH2 promoter may act as a protective factor for metabolic syndrome: A case-control study in Azar-Cohort population. Faramarzi E, et al. Arch Endocrinol Metab, 2021 Nov 3. PMID 34283907, Free PMC Article
  2. A functional variant of the dimethylarginine dimethylaminohydrolase-2 gene is associated with myocardial infarction in type 2 diabetic patients. Mannino GC, et al. Cardiovasc Diabetol, 2019 Aug 13. PMID 31409409, Free PMC Article
  3. Association of the -449GC and -1151AC polymorphisms in the DDAH2 gene with asymmetric dimethylarginine and erythropoietin resistance in Chinese patients on maintenance hemodialysis. Wang T, et al. Clin Exp Pharmacol Physiol, 2017 Sep. PMID 28590543
  4. Determine exogenous human DDAH2 gene function in rabbit bone marrow-derived endothelial progenitor cells in vitro. Shoeibi S, et al. Cell Biochem Funct, 2017 Mar. PMID 28150318
  5. Dimethylarginine dimethylaminohydrolase 2 promotes tumor angiogenesis in lung adenocarcinoma. Shiozawa T, et al. Virchows Arch, 2016 Feb. PMID 26515557, Free PMC Article

See all (93) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. expression of DDAH2 is associated with invasiveness of lung adenocarcinoma via tumor angiogenesis
    Title: Dimethylarginine dimethylaminohydrolase 2 promotes tumor angiogenesis in lung adenocarcinoma.
  9. 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.
  10. increased ADMA levels in rheumatoid arthritis do not appear to relate to DDAH genetic polymorphisms
    Title: Relationship between dimethylarginine dimethylaminohydrolase gene variants and asymmetric dimethylarginine in patients with rheumatoid arthritis.
Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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; N(G),N(G)-dimethylarginine dimethylaminohydrolase 2
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_2023_10

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  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 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  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 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  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 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  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 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  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 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  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 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  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 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  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 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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