AlphaFold predicted structure
ADA2 · Q9NZK5
Mean pLDDT
95.8/ 100
Very high
511 residues
Confidence breakdown
- Very high(≥ 90)94%
- Confident(70–90)1%
- Low(50–70)2%
- Very low(< 50)3%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ADA2
Chr 22q11.1adenosine deaminase 2
- Aliases:
- ADGF
- MANE:
- ENST00000399837.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Autoinflammatory disorders
BIALLELIC, autosomal or pseudoautosomalCOVID-19 research
BIALLELIC, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalRare anaemia
BIALLELIC, autosomal or pseudoautosomalRare genetic inflammatory skin disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
deficiency of adenosine deaminase 2
0.82Sneddon syndrome
0.77polyarteritis nodosa, childhoood-onset
0.72Diamond-Blackfan anemia
0.60Blackfan-Diamond anemia
0.60autoinflammatory syndrome
0.51Behcet disease
0.48Splenomegaly
0.34immunodeficiency disease
0.34polyarteritis nodosa
0.32
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Adenosine deaminase 2
Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity