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FLASH GENE

Symbol

ADA2

contributors: mct - updated : 08-01-2019

HGNC name	adenosine deaminase 2
HGNC id	1839

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CES cat eye syndrome DBAL1 Diamond-Blackfan anemia like 1
Location	22q11.1      Physical location : -
Synonym name	homolog of insect derived growth factor (IDGF and MDGF)
	cat eye syndrome critical region protein 1
	cat eye syndrome chromosome region, candidate 1
Synonym symbol(s)	IDGFL, ADGF, CECR1
EC.number	3.5.4.4

DNA

TYPE	chromosome region
STRUCTURE	43.06 kb     9 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - [D22S50 - D22S601 - D22S9 - {D22S43 - D22S420} - ATP6V1E1 ] - D22S67 - qter
Authors	Riazi (00)
Text	[CECR ],{CECR1}

RNA

TRANSCRIPTS	type	untranslated

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 3947 58 511 - 2005 15926889 NM_177405 7 - 3716 NP_803124 - 270 - 2005 15926889 a distinct 5' UTR and lacking an in-frame portion of the 5' coding region NM_001282227 10 - 4283 NP_001269156 - 469 - 2005 15926889 NM_001282229 9 - 4142 NP_001269158 - 391 - 2005 15926889 NM_001282228 10 - 4385 NP_001269157 - 469 - 2005 15926889 NM_001282226 10 - 4477 NP_001269155 - 511 - 2005 15926889 NM_001282225 10 - 4510 NP_001269154 - 511 - 2005 15926889

EXPRESSION

Type

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 Cardiovascular heart       highly Digestive liver         Respiratory lung         Urinary kidney

cell lineage	lymphoblasts
cell lines
fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	lung, placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal hydrophobic region
	a catalytic C terminal domain

HOMOLOGY

interspecies

homolog to zebrafish cecr1

Homologene

FAMILY	adenosine and AMP deaminases family
	ADGF subfamily

CATEGORY

enzyme , signaling growth factor

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	acting as a growth factor, having an adenosine deaminase activity
	is essential for the endothelial integrity of small vessels
	may likely act as a regulator of neutrophil activation, and that a reduction of ADA2 activity results in significant endothelial damage via a neutrophil-driven process
	is a secreted growth factor that is important for the development and differentiation of hematopoietic and endothelial cells and maintenance of vascular integrity
	ADA2 function in (M2-like) macrophages mediates cross talk between macrophages and pericytes in glioblastoma multiforme, GBM, via paracrine PDGFB-PDGFRB signaling, promoting pericyte recruitment and migration, and tumor angiogenesis

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other	glycosylation at N127 is required for trafficking of ADA2
		from the ER to the Golgi apparatus

ASSOCIATED DISORDERS

corresponding disease(s)

CES , DBAL1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in human retinas with diabetes

Susceptibility

Variant & Polymorphism

Candidate gene	cat eye syndrome (CES)
Marker
Therapy target

ANIMAL & CELL MODELS