Version: 8.0.0Date: Tue Jan 28 2025
Gene
ADA
- Species
- Homo sapiens
- Symbol
- ADA
- Name
- adenosine deaminase
- Synonyms
- ADA1
- adenosine aminohydrolase
- Biotype
- protein coding gene
- Automated Description
- Enables 2'-deoxyadenosine deaminase activity; adenosine deaminase activity; and zinc ion binding activity. Involved in several processes, including negative regulation of adenosine receptor signaling pathway; nucleobase-containing small molecule metabolic process; and regulation of cell-cell adhesion mediated by integrin. Acts upstream of or within adenosine catabolic process and inosine biosynthetic process. Located in cytosol; external side of plasma membrane; and lysosome. Implicated in asthma; colon cancer; pleural tuberculosis; severe combined immunodeficiency (multiple); and uterine fibroid. Biomarker of several diseases, including Legionnaires' disease; Q fever; gastric ulcer; gastrointestinal system cancer (multiple); and lung disease (multiple).
- RGD Description
- This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11409
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr20:44584896...44652252 - (67.36 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.