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

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
expression of DDAH2 is associated with invasiveness of lung adenocarcinoma via tumor angiogenesis
Title: Dimethylarginine dimethylaminohydrolase 2 promotes tumor angiogenesis in lung adenocarcinoma.
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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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH41827 (e-PCR)
- UniSTS:74062

G43219 (e-PCR)
- UniSTS:94896

D6S2132 (e-PCR)
- UniSTS:15065

STS-W60956 (e-PCR)
- UniSTS:40930

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 more info	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

EC 3.5.3.18

NP_001289937.1

EC 3.5.3.18

NP_039268.1

EC 3.5.3.18

XP_011512750.1

EC 3.5.3.18

XP_054185725.1

EC 3.5.3.18

XP_054186217.1

EC 3.5.3.18

XP_054186508.1

EC 3.5.3.18

XP_054186760.1

EC 3.5.3.18

XP_054186997.1

EC 3.5.3.18

XP_054187263.1

EC 3.5.3.18

XP_054210944.1

EC 3.5.3.18

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)

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
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
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