Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	-	363	20q13.12	ADA	adenosine deaminase
Mouse	-	352	2 H3	Ada	adenosine deaminase
Rat	-	352	3q42	Ada	adenosine deaminase

Previous and Unofficial Names

ADA1 | Adenosine aminohydrolase

Database Links
Alphafold	P00813 (Hs), P03958 (Mm), Q920P6 (Rn)
BRENDA	3.5.4.4
ChEMBL Target	CHEMBL1910 (Hs), CHEMBL3206 (Mm), CHEMBL4630846 (Rn)
DrugBank Target	P00813 (Hs)
Ensembl Gene	ENSG00000196839 (Hs), ENSMUSG00000017697 (Mm), ENSRNOG00000010265 (Rn)
Entrez Gene	100 (Hs), 11486 (Mm), 24165 (Rn)
Human Protein Atlas	ENSG00000196839 (Hs)
KEGG Enzyme	3.5.4.4
KEGG Gene	hsa:100 (Hs), mmu:11486 (Mm), rno:24165 (Rn)
OMIM	608958 (Hs)
Orphanet	ORPHA117771 (Hs)
Pharos	P00813 (Hs)
UniProtKB	P00813 (Hs), P03958 (Mm), Q920P6 (Rn)
Wikipedia	ADA (Hs)

Enzyme Reaction
EC Number: 3.5.4.4 Adenosine + H2O = inosine + NH3

Rank order of affinity (Human)

2'-deoxyadenosine > adenosine

Download all structure-activity data for this target as a CSV file

Inhibitors
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter Reference EHNA Hs Inhibition 8.8 pKi 1 ⤷ pKi 8.8 [1] pentostatin Hs Inhibition 10.8 pIC50 1 ⤷ pIC50 10.8 [1]

Immunopharmacology Comments

Adenosine deaminase deficiency causes immunodeficiency (ADA deficiency or ADA-SCID). Around 30 known genotypes are associated with this autosomal recessive metabolic disorder. Mitotically active cells such as developing T cells and B cells are susceptible to this deficiency, expaining the resulting pathology.

Immuno Process Associations

Immuno Process:  T cell (activation)

Immuno Process:  Cellular signalling

Immuno Process:  Inflammation

Immuno Process:  B cell (activation)

Immuno Process:  Immune regulation

Immuno Process:  Immune system development

Immuno Process:  Chemotaxis & migration

Clinically-Relevant Mutations and Pathophysiology
Disease:  Omenn syndrome Disease Ontology: DOID:0060010 Orphanet: ORPHA39041 References:  2-3
Disease:  Severe combined immunodeficiency due to adenosine deaminase deficiency Description: ADA-SCID is an ultra-rare, inherited genetic disorder, caused adenosine deaminase (ADA) deficiency. Affected individuals experience recurrent and potentially life-threatening infections as their immune systems are severely compromised by the build up of toxic metabolites in the absence of ADA activity. Synonyms: ADA-SCID Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase [OMIM: 102700] Disease Ontology: DOID:5810 OMIM: 102700 Orphanet: ORPHA277 Role:  ADA-SCID is caused by a genetic deficiency in the adenosine deaminase enzyme. It is fatal if left untreated. Drugs:  The US FDA approved an enzyme replacement therapy (ERT) for ADA-SCID in October 2018. This ERT contains the recombinant adenosine deaminase, elapegademase-lvlr and has the trade name Revcovi®. Therapeutic use:  Elapegademase-lvlr can be administered to pediatric and adult patients.