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
375840902024Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.1
375840902024Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.1
362398612023Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.1
364846062023Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2.0
368072212023A Cohort Study on Deficiency of ADA2 from China.2
373121952023A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran.1
373284102023Deficiency of adenosine deaminase 2 (DADA2): Review.1
376859492023Changes in Adenosine Deaminase Activity and Endothelial Dysfunction after Mild Coronavirus Disease-2019.2
362398612023Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.1
364846062023Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2.0
368072212023A Cohort Study on Deficiency of ADA2 from China.2
373121952023A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran.1
373284102023Deficiency of adenosine deaminase 2 (DADA2): Review.1
376859492023Changes in Adenosine Deaminase Activity and Endothelial Dysfunction after Mild Coronavirus Disease-2019.2
353856182022[Adenosine deaminase 2 deficiency: a disease with multiple presentations].1

Citation

Dessen P

ADA2 (adenosine deaminase 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56862/js/deep-insight-explorer/