ADA2
Chr 22ARadenosine deaminase 2
Also known as: ADGF, CECR1, IDGFL, PAN, SNEDS, VAIHS
The protein is a secreted adenosine deaminase that degrades extracellular adenosine and regulates cell proliferation and differentiation. Biallelic mutations cause vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome and Sneddon syndrome, both inherited in an autosomal recessive pattern. The gene is highly intolerant to loss-of-function variants, reflecting its critical role in immune and vascular function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ADA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools