ADA2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ADA2 |
| Official Name | adenosine deaminase 2 [Source:HGNC Symbol;Acc:HGNC:1839] |
| Ensembl ID | ENSG00000093072 |
| Bio databases IDs | |
| Aliases | adenosine deaminase 2 |
| Synonyms | adenosine deaminase 2, ADGF, CECR1, IDGFL, PAN, SNEDS, VAIHS |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ADA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- zinc ion binding
- adenosine deaminase-related growth factor
- adenosine deaminase
- G-protein-coupled receptor binding
- protein homodimerization
- enzyme
- protein binding
- metallo-dependent_hydrolases
- Adenosine/AMP deaminase N-terminal
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cutaneous melanoma
- glioblastoma
- glioblastoma cancer
- esophageal carcinoma formation
- childhood-onset polyarteritis nodosa
- ovarian serous cystadenocarcinoma
- serous ovarian cancer
- acute myeloid leukemia
- autoinflammatory disorder
- Sneddon syndrome
role in cell
- expression in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- azurophil granule lumen
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ADA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- adenosine catabolic process
- inosine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular region
- azurophil granule lumen
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- deoxyadenosine deaminase activity
- growth factor activity
- protein homodimerization activity
- proteoglycan binding
- adenosine receptor binding
- heparin binding
- adenosine deaminase activity