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

Gene ID: 23564, updated on 17-Jun-2024

Summary

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

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

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 protein information

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_001303007.2NP_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:62277
    Amidinotransf; Amidinotransferase
  2. NM_001303008.2NP_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:62277
    Amidinotransf; Amidinotransferase
  3. NM_013974.3NP_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:62277
    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_011514448.3XP_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:62277
    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_054329750.1XP_054185725.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 isoform X1

    UniProtKB/Swiss-Prot
    A2BEZ7, O95865
    UniProtKB/TrEMBL
    Q5SRR8, 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_054330242.1XP_054186217.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 isoform X1

    UniProtKB/Swiss-Prot
    A2BEZ7, O95865
    UniProtKB/TrEMBL
    Q5SRR8, 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_054330533.1XP_054186508.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 isoform X1

    UniProtKB/Swiss-Prot
    A2BEZ7, O95865
    UniProtKB/TrEMBL
    Q5SRR8, 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_054330785.1XP_054186760.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 isoform X1

    UniProtKB/Swiss-Prot
    A2BEZ7, O95865
    UniProtKB/TrEMBL
    Q5SRR8, 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_054331022.1XP_054186997.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 isoform X1

    UniProtKB/Swiss-Prot
    A2BEZ7, O95865
    UniProtKB/TrEMBL
    Q5SRR8, 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_054331288.1XP_054187263.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 isoform X1

    UniProtKB/Swiss-Prot
    A2BEZ7, O95865
    UniProtKB/TrEMBL
    Q5SRR8, 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_054354969.1XP_054210944.1  N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 isoform X1

    UniProtKB/Swiss-Prot
    A2BEZ7, O95865
    UniProtKB/TrEMBL
    Q5SRR8, V9HW53