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FLASH GENE

Symbol

DDAH2

contributors: mct - updated : 07-10-2015

HGNC name	dimethylarginine dimethylaminohydrolase 2
HGNC id	2716

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	encoded by G6A,member of MHC3
STRUCTURE	3.23 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	a core promoter region and transcription factor sites playing an important role in the regulation of DDAH2 expression

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_013974 7 - 1353 NP_039268 - 285 - - NM_001303007 6 - 2178 NP_001289936 - 285 - - NM_001303008 7 - 1278 NP_001289937 - 285 - -

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen           thymus         Cardiovascular heart         Lymphoid/Immune lymph node         Urinary kidney         Visual eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective cartilage       Homo sapiens Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte not specific chondrocyte Homo sapiens

cell lineage
cell lines	endothelial cell line
fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

hexapeptide repeat containing transferase, cell attachment sequence RGD tripeptides

mono polymer

monomer

HOMOLOGY

interspecies

homolog to murine Ddah2

Homologene

FAMILY

DDAH family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome

basic FUNCTION	N-omega dimethylarginine dimethylaminohydrolase, regulating cellular concentrations of dimethylarginines
	important regulatory role for DDAH1, DDAH2 in the maintenance of endothelial function
	DDAH2 could play an important role in IL1B-induced NO production and in osteoarthritis pathogenesis
	regulates the function of endothelial progenitor cells (EPCs)

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

text	inhibitor of retrite oxide generation

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

modulation of RAC1 activity by ADMA/DDAH1, ADMA/ DDAH2, regulates pulmonary endothelial barrier function

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   by hypermethylation in DDAH2 promoter is positively correlated to the dysfunction of endothelial progenitor cells (EPCs) in coronary artery disease patients

Susceptibility

to risk of developing myocardial infarction (MI) to chronic kidney disease

Variant & Polymorphism SNP	rs805304 C allele was associated with decreased risk of MI and decreased risk of obesity
	rs9267551 functional variant of the DDAH2 gene is associated with chronic kidney disease with carriers of the C allele having a lower risk of renal dysfunction independently from several confounders

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS