ADA2 (adenosine deaminase 2)

2017-04-01  

Identity

HGNC
ADA2
LOCATION
22q11.1
LOCUSID
51816
ALIAS
ADGF,CECR1,IDGFL,PAN,SNEDS,VAIHS

Other Information

Locus ID:

NCBI: 51816
MIM: 607575
HGNC: 1839
Ensembl: ENSG00000093072

Variants:

dbSNP: 51816
ClinVar: 51816
TCGA: ENSG00000093072
COSMIC: ADA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000093072ENST00000262607Q9NZK5
ENSG00000093072ENST00000330232Q9NZK5
ENSG00000093072ENST00000399837Q9NZK5
ENSG00000093072ENST00000399839Q9NZK5
ENSG00000093072ENST00000441548C9IZA8
ENSG00000093072ENST00000449907B4E3Q4
ENSG00000093072ENST00000543038F5H7J3
ENSG00000093072ENST00000610390A0A087X0I3
ENSG00000093072ENST00000648061A0A3B3IRR5
ENSG00000093072ENST00000649310A0A3B3IRN1
ENSG00000093072ENST00000649540B4E3Q4
ENSG00000093072ENST00000649746A0A3B3IRN1
ENSG00000093072ENST00000649915A0A3B3IT96

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Surfactant metabolismREACTOMER-HSA-5683826
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
245522842014Early-onset stroke and vasculopathy associated with mutations in ADA2.96
245522852014Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.79
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
159268892005Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity.32
270596822016Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases.23
201472942010Structural basis for the growth factor activity of human adenosine deaminase ADA2.20
258153382015MicroRNA-146b-3p regulates retinal inflammation by suppressing adenosine deaminase-2 in diabetes.18
252788162014Mutations in CECR1 associated with a neutrophil signature in peripheral blood.17
269220742016Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.17
289745052017Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.17

Citation

Dessen P

ADA2 (adenosine deaminase 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56862/ada2