ADA2 Gene - Adenosine Deaminase 2
A key regulator of extracellular adenosine levels and immune function
Gene Information Card
| Symbol | ADA2 |
|---|---|
| Full Name | Adenosine Deaminase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.1 |
| NCBI Gene ID | 51816 ncbi.nlm.nih.gov/gene/51816 |
| Ensembl ID | ENSG00000100242 |
| UniProt ID | Q9NZK5 |
| OMIM ID | 607575 |
| HGNC ID | 1839 |
| Aliases | CECR1, ADGF, ADA2, IDGFL |
Description
ADA2 encodes adenosine deaminase 2, an enzyme that catalyzes the deamination of adenosine to inosine. It is primarily secreted by monocytes and macrophages and plays a critical role in extracellular adenosine regulation, immune modulation, and vascular homeostasis. Loss-of-function mutations cause deficiency of adenosine deaminase 2 (DADA2), a rare autosomal recessive disorder characterized by early-onset stroke, vasculitis, and immunodeficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deficiency of Adenosine Deaminase 2 (DADA2) | Loss-of-function mutations reduce ADA2 enzymatic activity, leading to accumulation of extracellular adenosine and dysregulated immune responses, causing vascular inflammation and stroke. | OMIM #615688; ClinVar |
| Polyarteritis Nodosa (PAN)-like vasculitis | ADA2 deficiency mimics PAN with systemic necrotizing vasculitis; biallelic mutations in ADA2 identified in patients. | OMIM #615688; NCBI Gene |
| Immunodeficiency with recurrent infections | Reduced ADA2 activity impairs monocyte/macrophage function and B-cell development, increasing infection susceptibility. | OMIM #615688; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 6.1 | Low |
| Small Intestine | 4.7 | Low |
| Whole Blood | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High expression in monocytic cell line |
| K-562 (erythroleukemia) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 1.8 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.973-2A>G | Splice site | Common in DADA2 | Loss of function; reduced ADA2 activity |
| p.Gly47Arg | Missense | Rare | Loss of function; impaired secretion |
| p.Arg169Gln | Missense | Rare | Loss of function; reduced catalytic activity |
| p.Tyr453Cys | Missense | Rare | Loss of function; protein instability |
Mutation functional classification
Loss of Function (LOF)
Most ADA2 mutations are loss-of-function, leading to DADA2 via reduced enzymatic activity and impaired adenosine clearance.
Gain of Function (GOF)
No gain-of-function mutations reported in ADA2.
Dominant Negative (DN)
No dominant-negative mutations reported; DADA2 is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004000 - adenosine deaminase activity | • GO:0005576 - extracellular region |
| • GO:0005615 - extracellular space | • GO:0006144 - purine nucleobase metabolic process |
| • GO:0009168 - purine ribonucleoside monophosphate biosynthetic process | • GO:0016020 - membrane |
Pathways
• Adenosine degradation (Reactome: R-HSA-74217)
• Purine metabolism (KEGG: hsa00230)
• Extracellular adenosine signaling (Reactome: R-HSA-418594)
Protein Summary
Adenosine deaminase 2 (ADA2) is a 511-amino acid secreted protein that belongs to the adenosine deaminase family. It exists as a homodimer and catalyzes the irreversible deamination of adenosine to inosine. ADA2 is distinct from ADA1 in its extracellular localization and higher affinity for adenosine. It is expressed predominantly in myeloid cells and plays a role in regulating extracellular adenosine levels, thereby modulating inflammation, vascular integrity, and immune cell differentiation. Deficiency leads to DADA2 syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TADA2A Knockout HEK293 Cell Line | EDJ-KQ5879 | Human | 6871 | Details Get a Quote |
| TADA2B Knockout HEK293 Cell Line | EDJ-KQ11246 | Human | 93624 | Details Get a Quote |
| ADA2 Knockout HEK293 Cell Line | EDJ-KQ12277 | Human | 51816 | Details Get a Quote |
| TADA2B Knockout HCT 116 Cell Line | EDJ-KQ38018 | Human | 93624 | Details Get a Quote |
| TADA2A Knockout HCT 116 Cell Line | EDJ-KQ29374 | Human | 6871 | Details Get a Quote |
| TADA2A Knockout HeLa Cell Line | EDJ-KQ29375 | Human | 6871 | Details Get a Quote |
| TADA2B Knockout A-549 Cell Line | EDJ-KQ39341 | Human | 93624 | Details Get a Quote |
| TADA2B Knockout HeLa Cell Line | EDJ-KQ39342 | Human | 93624 | Details Get a Quote |
| ADA2 Knockout THP-1 Cell Line | EDJ-KZ527 | Human | 51816 | Details Get a Quote |
| ADA2 Knockout HeLa Cell Line | EDJ-KQ56364 | Human | 51816 | Details Get a Quote |
| TADA2A Knockout A-549 Cell Line | EDJ-KQ63089 | Human | 6871 | Details Get a Quote |
| ADA2 Knockout A-549 Cell Line | EDJ-KQ64854 | Human | 51816 | Details Get a Quote |
| ADA2 Knockout HCT 116 Cell Line | EDJ-KQ73297 | Human | 51816 | Details Get a Quote |
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