ADA2 Chromosome 22
Adenosine deaminase 2
Upload your DNA to see your personal genotypes for variants in ADA2.
What This Gene Does
This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Adenosine deaminase family
Locus Type
gene with protein product
Location
22q11.1
Ensembl
ENSG00000093072
Associated Conditions (9)
Deficiency of adenosine deaminase 2
Autoinflammatory syndrome
Sneddon syndrome
ADA2-related disorder
Ovarian serous cystadenocarcinoma
Splenomegaly
See cases
Inherited Immunodeficiency Diseases
Hepatocellular carcinoma
Key Variants
RS116020027
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Autoinflammatory syndrome, Sneddon syndrome
Health Risk
RS1390146619
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
Health Risk
RS144447953
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Sneddon syndrome, Deficiency of adenosine deaminase 2
Health Risk
RS146125672
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Autoinflammatory syndrome, Deficiency of adenosine deaminase 2
Health Risk
RS149466386
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Autoinflammatory syndrome, Deficiency of adenosine deaminase 2
Health Risk
RS199567025
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Autoinflammatory syndrome, Sneddon syndrome
Health Risk
RS2062397306
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
Health Risk
RS2123709418
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Sneddon syndrome, Deficiency of adenosine deaminase 2
Health Risk
RS2231488
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Autoinflammatory syndrome, Deficiency of adenosine deaminase 2
Health Risk
RS367610393
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Autoinflammatory syndrome, Deficiency of adenosine deaminase 2
Health Risk
RS373797039
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Autoinflammatory syndrome, ADA2-related disorder
Health Risk
RS374974565
Conflicting classifications of pathogenicity
Deficiency of adenosine deaminase 2, Sneddon syndrome, ADA2-related disorder
Health Risk
All Variants (85)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2062393838 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS2123651193 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS2123699776 | Health Risk | Pathogenic | Sneddon syndrome, Sneddon syndrome |
| RS2231487 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2, Sneddon syndrome |
| RS2517276433 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS2517294181 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS2517294264 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS2517294688 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS2517345941 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS2517360414 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS2517361483 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS368615054 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Sneddon syndrome, Deficiency of adenosine deaminase 2 |
| RS45511697 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, ADA2-related disorder, Deficiency of adenosine deaminase 2 |
| RS587777240 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS587777242 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS745795188 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS747774101 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS749240880 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS751280698 | Health Risk | Pathogenic | — |
| RS755007390 | Health Risk | Pathogenic | Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS756881285 | Health Risk | Pathogenic | Splenomegaly, Deficiency of adenosine deaminase 2, Sneddon syndrome |
| RS775440641 | Health Risk | Pathogenic | Sneddon syndrome, Deficiency of adenosine deaminase 2, See cases |
| RS1489114116 | Health Risk | Pathogenic/Likely pathogenic | Inherited Immunodeficiency Diseases, Deficiency of adenosine deaminase 2, Sneddon syndrome |
| RS148936893 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of adenosine deaminase 2, Sneddon syndrome, Deficiency of adenosine deaminase 2 |
| RS200930463 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of adenosine deaminase 2, Sneddon syndrome, ADA2-related disorder |
| RS369924229 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of adenosine deaminase 2, Sneddon syndrome, Deficiency of adenosine deaminase 2 |
| RS376785840 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of adenosine deaminase 2, Autoinflammatory syndrome, Sneddon syndrome |
| RS587777241 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of adenosine deaminase 2, Autoinflammatory syndrome, Deficiency of adenosine deaminase 2 |
| RS748893301 | Health Risk | Pathogenic/Likely pathogenic | Sneddon syndrome, Deficiency of adenosine deaminase 2, Sneddon syndrome |
| RS754904956 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of adenosine deaminase 2, Autoinflammatory syndrome, Sneddon syndrome |
| RS766602945 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of adenosine deaminase 2, Sneddon syndrome, Hepatocellular carcinoma |
| RS768987774 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of adenosine deaminase 2, Sneddon syndrome, Deficiency of adenosine deaminase 2 |
| RS770689762 | Health Risk | Pathogenic/Likely pathogenic | Sneddon syndrome, Deficiency of adenosine deaminase 2, Sneddon syndrome |
| RS77563738 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of adenosine deaminase 2, Inherited Immunodeficiency Diseases, Sneddon syndrome |
| RS775997344 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of adenosine deaminase 2, Sneddon syndrome, Deficiency of adenosine deaminase 2 |