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Aliases for ADA Gene

Aliases for ADA Gene

  • Adenosine Deaminase 2 3 5
  • EC 3.5.4.4 4 61
  • 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 purine nucleotides de novo biosynthesis. 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 (PubMed:8452534, PubMed:16670267). 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 (PubMed:20959412). Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion (PubMed:11772392). Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ T-cell differentiation and proliferation (PubMed:20959412). Acts as a positive modulator of adenosine receptors ADORA1 and ADORA2A, by enhancing their ligand affinity via conformational change (PubMed:23193172). Stimulates plasminogen activation (PubMed:15016824). Plays a role in male fertility (PubMed:21919946, PubMed:26166670). Plays a protective role in early postimplantation embryonic development (By similarity).

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

Enhancers for ADA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F044683 1.3 Ensembl ENCODE 18 -32.4 -32443 2.5 ELF3 ZNF48 RAD21 RFX5 YY1 SLC30A9 ELK1 ZNF143 RCOR1 DEK LINC01260 ADA KCNK15 WISP2 KCNK15-AS1 SERINC3 PKIG OSER1-AS1 ENSG00000283440
GH20F044678 0.2 ENCODE 12.4 -26.2 -26162 0.2 ZNF280D ZNF547 GLIS1 ZNF518A NR2F2 LINC01260 ADA PKIG ENSG00000283440
GH20F044617 0.2 ENCODE 12.1 +33.5 33506 1.6 ZFHX2 POLR2A IKZF1 EBF1 EGR2 ADA PKIG TTPAL PIR61280
GH20F044613 0.8 Ensembl ENCODE 12.1 +36.9 36851 3.4 CTCF KLF1 PKNOX1 CBX3 EBF1 RAD21 ZNF316 POLR2A EGR1 EED PKIG ADA TTPAL PIR61280
GH20F044640 1.2 FANTOM5 ENCODE 11.6 +5.3 5319 12.5 HDGF PKNOX1 WRNIP1 ZFP64 SIN3A DMAP1 SLC30A9 ZNF302 ZNF143 FOS OSER1 ADA PKIG SYS1 LINC01260 STK4 GC20M044554 GC20P044636
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ADA on UCSC Golden Path with GeneCards custom track

Promoters for ADA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000401496 133 2601 ZNF493 ZFP64 SIN3A DMAP1 ZNF48 GLIS2 ZNF302 KLF7 ZNF202 SP3
ENSR00001837695 1733 201 MLLT1 MAFK

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 (via extracellular domain) (PubMed:10951221, PubMed:14691230, PubMed:7907293, PubMed:8101391, PubMed:15016824). Interacts with PLG (via Kringle 4 domain); the interaction stimulates PLG activation when in complex with DPP4 (PubMed:15016824).

    Three dimensional structures from OCA and Proteopedia for ADA Gene

neXtProt entry for ADA Gene

Selected DME Specific Peptides for ADA Gene

P00813:
  • QAEGDLTP
  • FLAKFDYYMP
  • SLNTDDP
  • KRIAYEFVEMKAK
  • YVEVRYSPH
  • KPKVELHVHLDG
  • RSILCCMRH

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 BiophysicochemicalProperties:
Kinetic parameters: KM=37 uM for adenosine (at 25 degrees Celsius and pH 5.5) {ECO:0000269 PubMed:8452534}; Vmax=41 umol/min/mg enzyme {ECO:0000269 PubMed:23193172};
UniProtKB/Swiss-Prot CatalyticActivity:
Adenosine + H(2)O = inosine + NH(3).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by Cu(2+) and Hg(2+), coformycin, deoxycoformycin (dCF), 2-deoxyadenosine, 6-methylaminopurine riboside, 2-3-iso-propylidene-adenosine and erythro-9-(2-hydroxy-3-nonyl)adenine.
UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine (PubMed:8452534, PubMed:16670267). 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 (PubMed:20959412). Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion (PubMed:11772392). Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ T-cell differentiation and proliferation (PubMed:20959412). Acts as a positive modulator of adenosine receptors ADORA1 and ADORA2A, by enhancing their ligand affinity via conformational change (PubMed:23193172). Stimulates plasminogen activation (PubMed:15016824). Plays a role in male fertility (PubMed:21919946, PubMed:26166670). Plays a protective role in early postimplantation embryonic development (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated by hypoxia.

Enzyme Numbers (IUBMB) for ADA Gene

Gene Ontology (GO) - Molecular Function for ADA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001883 purine nucleoside binding IEA --
GO:0004000 adenosine deaminase activity ISS --
GO:0005515 protein binding IPI 7594462
GO:0008270 zinc ion binding IEA,ISS --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADA: view
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

miRNA for ADA Gene

miRTarBase miRNAs that target ADA

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ADA

Flow Cytometry Products

No data available for 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. Lysosome. Note=Colocalized with DPP4 at the cell surface. {ECO:0000269 PubMed:11772392}.

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:0005615 extracellular space IEA --
GO:0005737 cytoplasm IDA --
GO:0005764 lysosome IDA 8452534
GO:0005829 cytosol IBA,TAS --
GO:0005886 plasma membrane IDA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pentostatin Approved, Investigational Pharma Inhibition, Inhibitor, inhibitor, Target Irreversible adenosine deaminase inhibitor, Adenosine deaminase inhibitor 53
Dipyridamole Approved Pharma Inhibition, Inhibitor, inhibitor, Target Adenosine transport inhibitor 80
Nelarabine Approved, Investigational Pharma Enzyme, substrate Prodrug of ara-G for T-LBL/T-ALL 0
Theophylline Approved Pharma Antagonist, Enzyme, inhibitor, inducer 62
Vidarabine Approved Pharma Enzyme, substrate 512

(59) Additional Compounds for ADA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

(2) Tocris Compounds for ADA Gene

Compound Action Cas Number
1-Deazaadenosine Adenosine deaminase inhibitor 14432-09-8
Pentostatin Adenosine deaminase inhibitor 53910-25-1

(4) ApexBio Compounds for ADA Gene

Compound Action Cas Number
1-Deazaadenosine 14432-09-8
Cladribine Apoptosis inducer in CLL cells 4291-63-8
EHNA hydrochloride 81408-49-3
Pentostatin Irreversible adenosine deaminase inhibitor 53910-25-1
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ADA

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ADA Gene



Protein tissue co-expression partners for ADA Gene

NURSA nuclear receptor signaling pathways regulating expression of ADA Gene:

ADA

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 (PubMed:20959412). Expressed at the time of weaning in gastrointestinal tissues.
genes like me logo Genes that share expression patterns with ADA: view

Primer 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 34 35
  • 98.9 (n)
cow
(Bos Taurus)
Mammalia ADA 34 35
  • 87.7 (n)
dog
(Canis familiaris)
Mammalia ADA 34 35
  • 86.98 (n)
rat
(Rattus norvegicus)
Mammalia Ada 34
  • 83.38 (n)
oppossum
(Monodelphis domestica)
Mammalia ADA 35
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ada 34 16 35
  • 81.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADA 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADA 34 35
  • 69.24 (n)
lizard
(Anolis carolinensis)
Reptilia ADA 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ada 34
  • 66.48 (n)
zebrafish
(Danio rerio)
Actinopterygii ada 34 35
  • 63.87 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9899 34
worm
(Caenorhabditis elegans)
Secernentea C06G3.5 34 35
  • 49.5 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AAH1 34 35 37
  • 41.27 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23167g 34
  • 40.72 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dea2 34
  • 40.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
-- 35
  • 34 (a)
OneToMany
Species where no ortholog for ADA was found in the sources mined by GeneCards:
  • 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

ADA_HUMAN-P00813
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
rs114025668 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700], Pathogenic 44,623,042(+) CCCGG(C/T)GTGGA intron-variant, nc-transcript-variant, reference, missense
rs121908715 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700], Pathogenic 44,620,391(-) CAATG(C/T)GGCCA 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) [MIM:102700], Pathogenic 44,623,053(-) TCACC(A/G)TACTG intron-variant, nc-transcript-variant, reference, missense
rs121908718 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700], Pathogenic 44,621,103(-) TGACC(A/C/T)GCTCA nc-transcript-variant, reference, missense
rs121908719 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700], untested 44,624,279(-) AGACC(A/G)TGGTA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv24506 CNV loss 19812545
esv2668236 CNV deletion 23128226
esv3645911 CNV loss 21293372
nsv1126597 CNV deletion 24896259
nsv3390 CNV deletion 18451855
nsv498972 CNV loss 21111241

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

Human Gene Mutation Database (HGMD)
ADA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADA

Disorders for ADA Gene

MalaCards: The human disease database

(51) 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
  • severe combined immunodeficiency due to ada deficiency
omenn syndrome
  • combined immunodeficiency with hypereosinophilia
pleural tuberculosis
  • pearly disease
tuberculous peritonitis
  • peritonitis tuberculous
- 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, ECO:0000269 PubMed:9361033}. 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. Endothelial catabolism of extracellular adenosine during hypoxia: the role of surface adenosine deaminase and CD26. (PMID: 16670267) Eltzschig H.K. … Colgan S.P. (Blood 2006) 3 4 22 64
  2. Genetic predisposition of responsiveness to therapy for chronic hepatitis C. (PMID: 16886895) Hwang Y. … Chen D.S. (Pharmacogenomics 2006) 3 22 46 64
  3. A functional genetic variation of adenosine deaminase affects the duration and intensity of deep sleep in humans. (PMID: 16221767) Retey J.V. … Landolt H.-P. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 22 64
  4. Cell surface adenosine deaminase binds and stimulates plasminogen activation on 1-LN human prostate cancer cells. (PMID: 15016824) Gonzalez-Gronow M. … Pizzo S.V. (J. Biol. Chem. 2004) 3 4 22 64
  5. Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies. (PMID: 11121182) Persico A.M. … Keller F. (Am. J. Med. Genet. 2000) 3 22 46 64

Products for ADA Gene

Sources for ADA Gene

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