ADA Gene - Adenosine Deaminase

Genetic and Functional Insights into ADA Deficiency and Associated Disorders

Gene Information Card

Symbol ADA
Full Name Adenosine Deaminase
Gene Type Protein coding
Chromosomal Location 20q13.12
NCBI Gene ID 100 ncbi.nlm.nih.gov/gene/100
Ensembl ID ENSG00000196839
UniProt ID P00813
OMIM ID 608958
HGNC ID HGNC:186
Aliases ADA1, ADAS, ADA2

Description

The ADA gene encodes adenosine deaminase, an enzyme involved in purine metabolism that catalyzes the irreversible deamination of adenosine and deoxyadenosine to inosine and deoxyinosine, respectively. Deficiency of this enzyme leads to accumulation of toxic metabolites, primarily causing severe combined immunodeficiency (SCID) due to lymphotoxicity. The gene is located on chromosome 20q13.12 and is expressed in various tissues, with highest levels in lymphoid tissues.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Severe Combined Immunodeficiency (SCID) due to ADA deficiency Loss-of-function mutations in ADA cause accumulation of deoxyadenosine and dATP, which inhibit ribonucleotide reductase and induce apoptosis in developing T and B lymphocytes. OMIM #102700; ClinVar; multiple case reports
Partial ADA deficiency Milder mutations result in reduced enzyme activity, leading to late-onset immunodeficiency or autoimmune manifestations. OMIM #102700; literature review
Hemolytic anemia (rare association) Accumulation of adenosine metabolites may affect erythrocyte metabolism, though direct evidence is limited. Case reports; ClinVar

Expression Profile

Tissue Expression
Tissue nTPM level
Lymphoid tissues (spleen, lymph node, thymus) High High
Small intestine Moderate Medium
Kidney Moderate Medium
Liver Low Low
Brain Low Low
Cell Line Expression
Cell Line nTPM Notes
K562 (leukemia) High High expression in erythroleukemia cell line
HeLa (cervical carcinoma) Moderate Moderate expression
HEK293 (embryonic kidney) Low Low expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.646G>A (p.Gly216Arg) Missense Common in ADA-SCID Loss of function; reduced enzyme activity
c.956_960del (p.Leu319Argfs*13) Frameshift Rare Loss of function; truncated protein
c.455T>C (p.Leu152Pro) Missense Rare Loss of function; structural instability
Mutation functional classification

Loss of Function (LOF)

Most ADA mutations are loss-of-function, leading to enzyme deficiency and accumulation of toxic purine metabolites, primarily causing SCID.

Gain of Function (GOF)

No gain-of-function mutations are reported for ADA.

Dominant Negative (DN)

No dominant-negative mutations are reported; ADA deficiency is autosomal recessive.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/100
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ADA

Gene Ontology (GO)

• adenosine deaminase activity (GO:0004000) • adenosine catabolic process (GO:0006152)
• purine ribonucleoside monophosphate biosynthetic process (GO:0009168) • nucleus (GO:0005634)
• cytosol (GO:0005829)

Pathways

• Purine metabolism (KEGG: hsa00230)
• Adenosine deaminase deficiency (Reactome: R-HSA-1169091)

Protein Summary

Adenosine deaminase (ADA) is a 40.7 kDa monomeric enzyme that catalyzes the deamination of adenosine and deoxyadenosine. It is ubiquitously expressed, with highest levels in lymphoid tissues. The enzyme is critical for purine salvage and detoxification; deficiency leads to accumulation of dATP, which inhibits DNA synthesis and causes lymphotoxicity. ADA is also involved in immune regulation and has been targeted for enzyme replacement therapy in ADA-SCID.

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Displaying Records 1 To 15 Of 269 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/100
OMIM https://www.omim.org/entry/608958
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:186
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196839
UniProt https://www.uniprot.org/uniprot/P00813
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=ADA%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ADA
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