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DDAH2 dimethylarginine dimethylaminohydrolase 2 [ Homo sapiens (human) ]

Gene ID: 23564, updated on 9-Jun-2020

Summary

Official Symbol
DDAH2provided by HGNC
Official Full Name
dimethylarginine dimethylaminohydrolase 2provided by HGNC
Primary source
HGNC:HGNC:2716
See related
Ensembl:ENSG00000213722 MIM:604744
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

Genomic context

See DDAH2 in Genome Data Viewer
Location:
6p21.33
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31727040..31730263, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31694817..31698039, 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 chloride intracellular channel 1 Neighboring gene Sharpr-MPRA regulatory region 5872 Neighboring gene uncharacterized LOC105375020

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
catalytic activity TAS
Traceable Author Statement
more info
PubMed 
dimethylargininase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dimethylargininase activity IDA
Inferred from Direct Assay
more info
PubMed 
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
arginine catabolic process IEA
Inferred from Electronic Annotation
more info
 
arginine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
citrulline metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
citrulline metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
nitric oxide biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
nitric oxide mediated signal transduction TAS
Traceable Author Statement
more info
PubMed 
positive regulation of nitric oxide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of nitric oxide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of nitric-oxide synthase activity TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
centriolar satellite IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
N(G),N(G)-dimethylarginine dimethylaminohydrolase 2
Names
S-phase protein
dimethylargininase-2
dimethylarginine dimethylaminohydrolase II
epididymis secretory protein Li 277
testis tissue sperm-binding protein Li 54e
NP_001289936.1
NP_001289937.1
NP_039268.1
XP_011512750.1

NCBI Reference Sequences (RefSeq)

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_001303007.2NP_001289936.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2

    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
    O95865
    UniProtKB/TrEMBL
    V9HW53
    Related
    ENSP00000364945.2, ENST00000375789.7
    Conserved Domains (1) summary
    cl19186
    Location:62277
    Amidinotransf; Amidinotransferase
  2. NM_001303008.2NP_001289937.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2

    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
    O95865
    UniProtKB/TrEMBL
    V9HW53
    Conserved Domains (1) summary
    cl19186
    Location:62277
    Amidinotransf; Amidinotransferase
  3. NM_013974.3NP_039268.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2

    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
    O95865
    UniProtKB/TrEMBL
    V9HW53
    Related
    ENSP00000364949.3, ENST00000375792.7
    Conserved Domains (1) summary
    cl19186
    Location:62277
    Amidinotransf; Amidinotransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011514448.2XP_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
    O95865
    UniProtKB/TrEMBL
    V9HW53
    Related
    ENSP00000397466.1, ENST00000416410.5
    Conserved Domains (1) summary
    cl19186
    Location:62277
    Amidinotransf; Amidinotransferase

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

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

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

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

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

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

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

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

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

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

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

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