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Aliases for ADA Gene

Aliases for ADA Gene

  • Adenosine Deaminase 2 3 5
  • EC 3.5.4.4 4 63
  • Adenosine Aminohydrolase 4
  • ADA1 4

External Ids for ADA Gene

Previous GeneCards Identifiers for ADA Gene

  • GC20M042976
  • GC20M043886
  • GC20M043933
  • GC20M042681
  • GC20M043248
  • GC20M039989

Summaries for ADA Gene

Entrez Gene Summary for ADA Gene

  • This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADA Gene

ADA (Adenosine Deaminase) is a Protein Coding gene. Diseases associated with ADA include severe combined immunodeficiency due to ada deficiency and adenosine deaminase deficiency. Among its related pathways are Metabolism and One carbon pool by folate. GO annotations related to this gene include adenosine deaminase activity and purine nucleoside binding.

UniProtKB/Swiss-Prot for ADA Gene

  • Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion.

Tocris Summary for ADA Gene

  • Deaminases are enzymes that catalyze the hydrolysis of C-NH2 bonds in amino compounds, producing ammonia. They are usually named after their substrate; two well known members of this group are adenosine deaminase and cytidine deaminase.

Gene Wiki entry for ADA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADA Gene

Genomics for ADA Gene

Regulatory Elements for ADA Gene

Promoters for ADA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADA on UCSC Golden Path with GeneCards custom track

Genomic Location for ADA Gene

Chromosome:
20
Start:
44,619,522 bp from pter
End:
44,652,233 bp from pter
Size:
32,712 bases
Orientation:
Minus strand

Genomic View for ADA Gene

Genes around ADA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADA Gene

Proteins for ADA Gene

  • Protein details for ADA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00813-ADA_HUMAN
    Recommended name:
    Adenosine deaminase
    Protein Accession:
    P00813
    Secondary Accessions:
    • Q53F92
    • Q6LA59

    Protein attributes for ADA Gene

    Size:
    363 amino acids
    Molecular mass:
    40764 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with DPP4 (extracellular domain).

    Three dimensional structures from OCA and Proteopedia for ADA Gene

neXtProt entry for ADA Gene

Proteomics data for ADA Gene at MOPED

Selected DME Specific Peptides for ADA Gene

Post-translational modifications for ADA Gene

  • Ubiquitination at Lys 23, Lys 54, Lys 92, Lys 111, Lys 147, Lys 164, Lys 171, Lys 206, Lys 225, Lys 232, Lys 273, Lys 284, Lys 301, Lys 312, Lys 323, Lys 331, and Lys 340
  • Modification sites at PhosphoSitePlus

Other Protein References for ADA Gene

Antibody Products

  • R&D Systems Antibodies for ADA (Adenosine Deaminase/ADA)

Domains & Families for ADA Gene

Gene Families for ADA Gene

Suggested Antigen Peptide Sequences for ADA Gene

Graphical View of Domain Structure for InterPro Entry

P00813

UniProtKB/Swiss-Prot:

ADA_HUMAN :
  • Belongs to the adenosine and AMP deaminases family.
Family:
  • Belongs to the adenosine and AMP deaminases family.
genes like me logo Genes that share domains with ADA: view

Function for ADA Gene

Molecular function for ADA Gene

GENATLAS Biochemistry:
adenosine deaminase,adenine nucleotide catalytic pathway,including a locus control region LCR-ADA (see symbol) in intron 1
UniProtKB/Swiss-Prot CatalyticActivity:
Adenosine + H(2)O = inosine + NH(3).
UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion.

Enzyme Numbers (IUBMB) for ADA Gene

genes like me logo Genes that share phenotypes with ADA: view

Human Phenotype Ontology for ADA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADA Gene

MGI Knock Outs for ADA:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADA

miRNA for ADA Gene

miRTarBase miRNAs that target ADA

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ADA Gene

Localization for ADA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADA Gene

Cell membrane; Peripheral membrane protein; Extracellular side. Cell junction. Cytoplasmic vesicle lumen. Cytoplasm. Note=Colocalized with DPP4 at the cell junction in lymphocyte-epithelial cell adhesion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADA Gene COMPARTMENTS Subcellular localization image for ADA gene
Compartment Confidence
cytosol 5
lysosome 5
plasma membrane 5
vacuole 5
extracellular 4
nucleus 3
mitochondrion 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for ADA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0009897 external side of plasma membrane IDA 7759315
GO:0016020 membrane IDA 11999881
genes like me logo Genes that share ontologies with ADA: view

Pathways & Interactions for ADA Gene

genes like me logo Genes that share pathways with ADA: view

Gene Ontology (GO) - Biological Process for ADA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 16670267
GO:0001701 in utero embryonic development IEA --
GO:0001821 histamine secretion IEA --
GO:0001829 trophectodermal cell differentiation IEA --
GO:0001889 liver development IEA --
genes like me logo Genes that share ontologies with ADA: view

No data available for SIGNOR curated interactions for ADA Gene

Drugs & Compounds for ADA Gene

(98) Drugs for ADA Gene - From: Novoseek, IUPHAR, DGIdb, DrugBank, HMDB, FDA Approved Drugs, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pentostatin Approved, Investigational Pharma Inhibition, Inhibitor, inhibitor, Target 52
Dipyridamole Approved Pharma Inhibition, Inhibitor, inhibitor, Target Adenosine transport inhibitor 76
Nelarabine Approved, Investigational Pharma Enzyme, substrate Prodrug of ara-G for T-LBL/T-ALL 0
Theophylline Approved Pharma Antagonist, Enzyme, inhibitor, inducer 56
Vidarabine Approved Pharma Enzyme, substrate 238

(64) Additional Compounds for ADA Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Deazaadenosine
14432-09-8
deoxyadenosine
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-b-D-Ribofuranose
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-beta-D-Ribofuranose
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-beta-delta-Ribofuranose
  • 2'-Deoxyadenosine
  • 2-Deoxyadenosine
958-09-8
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with ADA: view

Drug Products

Transcripts for ADA Gene

Unigene Clusters for ADA Gene

Adenosine deaminase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ADA Gene

GeneLoc Exon Structure for
ADA
ECgene alternative splicing isoforms for
ADA

Expression for ADA Gene

mRNA expression in normal human tissues for ADA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADA Gene

This gene is overexpressed in Pancreatic juice (39.1) and Spleen (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ADA Gene



SOURCE GeneReport for Unigene cluster for ADA Gene Hs.654536

mRNA Expression by UniProt/SwissProt for ADA Gene

P00813-ADA_HUMAN
Tissue specificity: Found in all tissues, occurs in large amounts in T-lymphocytes and, at the time of weaning, in gastrointestinal tissues.
genes like me logo Genes that share expression patterns with ADA: view

Protein tissue co-expression partners for ADA Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ADA Gene

Orthologs for ADA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ADA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADA 35
  • 98.9 (n)
  • 98.35 (a)
ADA 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADA 36
  • 89 (a)
OneToOne
ADA 35
  • 87.7 (n)
  • 88.71 (a)
dog
(Canis familiaris)
Mammalia ADA 35
  • 86.98 (n)
  • 86.43 (a)
ADA 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ada 16
Ada 36
  • 83 (a)
OneToOne
Ada 35
  • 81.58 (n)
  • 83.48 (a)
oppossum
(Monodelphis domestica)
Mammalia ADA 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADA 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ada 35
  • 83.38 (n)
  • 85.75 (a)
chicken
(Gallus gallus)
Aves ADA 36
  • 66 (a)
OneToOne
ADA 35
  • 69.24 (n)
  • 67.71 (a)
lizard
(Anolis carolinensis)
Reptilia ADA 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ada 35
  • 66.48 (n)
  • 72 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9899 35
zebrafish
(Danio rerio)
Actinopterygii ada 35
  • 63.87 (n)
  • 65.55 (a)
ada 36
  • 64 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C06G3.5 36
  • 34 (a)
OneToOne
C06G3.5 35
  • 49.5 (n)
  • 42.17 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AAH1 35
  • 41.27 (n)
  • 28.57 (a)
AAH1 36
  • 24 (a)
OneToOne
AAH1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23167g 35
  • 40.72 (n)
  • 27.36 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dea2 35
  • 40.5 (n)
  • 29.28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
-- 36
  • 34 (a)
OneToMany
Species with no ortholog for ADA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADA Gene

ENSEMBL:
Gene Tree for ADA (if available)
TreeFam:
Gene Tree for ADA (if available)

Paralogs for ADA Gene

No data available for Paralogs for ADA Gene

Variants for ADA Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ADA Gene

P00813-ADA_HUMAN
There is a common allele, ADA*2, also known as the ADA 2 allozyme. It is associated with the reduced metabolism of adenosine to inosine. It specifically enhances deep sleep and slow-wave activity (SWA) during sleep.

Sequence variations from dbSNP and Humsavar for ADA Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs121908727 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) 44,624,272(-) GGTAG(A/C)CATTG nc-transcript-variant, reference, missense
rs121908734 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) 44,624,212(-) TGTCC(A/C)GGCCT nc-transcript-variant, reference, missense
rs121908740 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) 44,623,054(-) TTCAC(C/T)GTACT intron-variant, nc-transcript-variant, reference, missense
rs121908716 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) 44,623,053(-) TCACC(A/G)TACTG intron-variant, nc-transcript-variant, reference, missense
rs114025668 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) 44,623,042(+) CCCGG(C/T)GTGGA intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ADA Gene

Variant ID Type Subtype PubMed ID
nsv3390 CNV Loss 18451855
esv2668236 CNV Deletion 23128226
nsv498972 CNV Loss 21111241
esv24506 CNV Loss 19812545

Variation tolerance for ADA Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.61; 72.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADA Gene

HapMap Linkage Disequilibrium report
ADA
Human Gene Mutation Database (HGMD)
ADA

Disorders for ADA Gene

MalaCards: The human disease database

(47) MalaCards diseases for ADA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
severe combined immunodeficiency due to ada deficiency
  • adenosine deaminase deficiency, partial
adenosine deaminase deficiency
  • ada
omenn syndrome
  • reticuloendotheliosis familial with eosinophilia
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
malignant histiocytosis
  • histiocytic medullary reticulosis [obs]
- elite association - COSMIC cancer census association via MalaCards
Search ADA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADA_HUMAN
  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]: An autosomal recessive disorder accounting for about 50% of non-X-linked SCIDs. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency. {ECO:0000269 PubMed:10200056, ECO:0000269 PubMed:1284479, ECO:0000269 PubMed:2166947, ECO:0000269 PubMed:2783588, ECO:0000269 PubMed:3182793, ECO:0000269 PubMed:3839802, ECO:0000269 PubMed:6208479, ECO:0000269 PubMed:7599635, ECO:0000269 PubMed:8227344, ECO:0000269 PubMed:8299233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ADA Gene

SCID,autosomal recessive,immunodeficiency,severe,combined (complete ADA deficiency),associating immunodeficiency (B-T cell CD4-lympho and thrombopenia),skeletal dysplasia,recurrent respiratory infections and asthma,hepatoplenomegaly,or slow progressive or late onset (partial ADA deficiency)

Relevant External Links for ADA

Genetic Association Database (GAD)
ADA
Human Genome Epidemiology (HuGE) Navigator
ADA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADA
genes like me logo Genes that share disorders with ADA: view

Publications for ADA Gene

  1. Human adenosine deaminase. cDNA and complete primary amino acid sequence. (PMID: 6090454) Daddona P.E. … Orkin S.H. (J. Biol. Chem. 1984) 2 3 4 67
  2. Binding properties of adenosine deaminase interacted with theophylline. (PMID: 15467230) Saboury A.A. … Namaki S. (Chem. Pharm. Bull. 2004) 23 25 26
  3. [Adenosine deaminase: isoenzymes ADA1 and ADA2]. (PMID: 9523470) Kopff M. … Puczkowski S. (Pol. Merkur. Lekarski 1997) 23 25 26
  4. Evaluation of cerebrospinal fluid adenosine deaminase activity in HIV-seropositive subjects and its association with lactate dehydrogenase and protein levels. (PMID: 20347569) Pinheiro F.V. … Moretto M.B. (Biomed. Pharmacother. 2010) 3 23
  5. Adenosine deaminase modulation of telomerase activity and replicative senescence in human CD8 T lymphocytes. (PMID: 20147632) Parish S.T. … Effros R.B. (J. Immunol. 2010) 3 23

Products for ADA Gene

Sources for ADA Gene

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