ADA Gene (Protein Coding)

Adenosine Deaminase

GC20M044620
GIFtS:
51
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 productio... See more...

Aliases for ADA Gene

Aliases for ADA Gene

  • Adenosine Deaminase 2 3 4 5
  • Adenosine Aminohydrolase 3 4
  • EC 3.5.4.4 4 54
  • 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, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency and Severe Combined Immunodeficiency. Among its related pathways are Metabolism of nucleotides and purine nucleotides de novo biosynthesis. Gene Ontology (GO) annotations related to this gene include adenosine deaminase activity and purine nucleoside binding. An important paralog of this gene is ADAL.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ADA Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADA Gene

Genomics for ADA Gene

GeneHancer (GH) Regulatory Elements for ADA Gene

Promoters and enhancers for ADA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADA gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for ADA Gene

Genomic Locations for ADA Gene
chr20:44,619,522-44,652,233
(GRCh38/hg38)
Size:
32,712 bases
Orientation:
Minus strand
chr20:43,248,163-43,280,874
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for ADA Gene

Proteins for ADA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ADA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ADA Gene

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

Post-translational modifications for ADA Gene

  • Ubiquitination at Lys23, Lys54, Lys92, Lys111, Lys147, Lys164, Lys171, Lys206, Lys225, Lys232, Lys273, Lys284, Lys301, Lys312, Lys323, Lys331, and Lys340
  • Modification sites at PhosphoSitePlus

Other Protein References for ADA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ADA

Domains & Families for ADA Gene

Gene Families for ADA Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ADA Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ADA Gene

GenScript: Design optimal peptide antigens:
  • Adenosine aminohydrolase (ADA_HUMAN)
  • Mutant adenosine deaminase (Q16073_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00813

UniProtKB/Swiss-Prot:

ADA_HUMAN :
  • Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
genes like me logo Genes that share domains with ADA: view

Function for ADA Gene

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  2. CRISPR
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Molecular function for ADA Gene

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 CatalyticActivity:
Reaction=adenosine + H(+) + H2O = inosine + NH4(+); Xref=Rhea:RHEA:24408, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16335, ChEBI:CHEBI:17596, ChEBI:CHEBI:28938; EC=3.5.4.4; Evidence={ECO:0000269 PubMed:16670267, ECO:0000269 PubMed:23193172, ECO:0000269 PubMed:8452534};.
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 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 Induction:
Up-regulated by hypoxia.
GENATLAS Biochemistry:
adenosine deaminase,adenine nucleotide catalytic pathway,including a locus control region LCR-ADA (see symbol) in intron 1

Enzyme Numbers (IUBMB) for ADA Gene

Phenotypes From GWAS Catalog 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 EXP,ISS --
GO:0005515 protein binding IPI 7594462
GO:0008270 zinc ion binding ISS,IEA --
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:
  • Ada Ada<tm1Mw>
  • Ada Ada<tm1Vlr>

Animal Model Products

CRISPR Products

miRNA for ADA Gene

miRTarBase miRNAs that target ADA

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADA

Clone Products

  • Addgene plasmids for ADA

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADA gene
Compartment Confidence
plasma membrane 5
cytosol 5
lysosome 5
extracellular 3
nucleus 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA,IDA 8452534
GO:0005829 cytosol TAS,IDA --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pentostatin Approved, Investigational Pharma Inhibition, Inhibitor, Target, inhibitor Irreversible adenosine deaminase inhibitor, Adenosine deaminase inhibitor 57
Dipyridamole Approved Pharma Inhibition, Inhibitor, Target, inhibitor Adenosine transport inhibitor 89
Nelarabine Approved, Investigational Pharma Enzyme, substrate Prodrug of ara-G for T-LBL/T-ALL 0
Theophylline Approved Pharma Antagonist, Enzyme, inhibitor, inducer 77
Vidarabine Approved, Investigational Pharma Enzyme, substrate 574

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
deoxyadenosine
  • (2R,3S,5R)-5-(6-amino-9H-Purin-9-yl)-2-(hydroxymethyl)tetrahydrofuran-3-ol
  • 5-(6-amino-PURIN-9-yl)-2-hydroxymethyl-tetrahydro-furan-3-ol
  • 9-(2-Deoxy-beta-D-erythro-pentofuranosyl)adenine
  • 9-(2-Deoxy-beta-D-ribofuranosyl)-9H-purin-6-amine
  • Adenine deoxyribonucleoside
 958-09-8

(3) Tocris Compounds for ADA Gene

Compound Action Cas Number
1-Deazaadenosine Adenosine deaminase inhibitor 14432-09-8
EHNA hydrochloride Adenosine deaminase inhibitor 58337-38-5
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

Transcripts for ADA Gene

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  1. CRISPR
  2. miRNA
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mRNA/cDNA for ADA Gene

(3) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(176) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADA

Clone Products

  • Addgene plasmids for ADA

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADA Gene

mRNA expression in normal human tissues for ADA Gene
mRNA expression by BioGPS for ADA GenemRNA expression by GTEx 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, 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.

Evidence on tissue expression from TISSUES for ADA Gene

  • Nervous system(4.5)
  • Blood(4)
  • Intestine(2.5)
  • Bone marrow(2.3)
  • Heart(2.3)
  • Lung(2.2)
  • Spleen(2.2)
  • Muscle(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • face
  • forehead
  • head
  • sinus
  • skull
Thorax:
  • bronchus
  • chest wall
  • lung
  • rib
  • rib cage
  • thymus
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • pelvis
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ADA: view

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 33 32
  • 98.9 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ADA 33 32
  • 87.7 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ADA 33 32
  • 86.98 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ada 32
  • 83.38 (n)
oppossum
(Monodelphis domestica)
 Mammalia ADA 33
  • 82 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ada 17 33 32
  • 81.58 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ADA 33
  • 71 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ADA 33 32
  • 69.24 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ADA 33
  • 64 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ada 32
  • 66.48 (n)
zebrafish
(Danio rerio)
 Actinopterygii ada 33 32
  • 63.87 (n)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9899 32
worm
(Caenorhabditis elegans)
 Secernentea C06G3.5 33 32
  • 49.5 (n)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AAH1 35 33 32
  • 41.27 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E23167g 32
  • 40.72 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes dea2 32
  • 40.5 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 40 (a)
 OneToMany
-- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ADA: view image

Paralogs for ADA Gene

Paralogs for ADA Gene

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

Variants for ADA Gene

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  1. SNP Genotyping and Copy Number Assay

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 Variation AA Info Type
rs1057520217 pathogenic, not provided, Severe combined immunodeficiency due to ADA deficiency 44,651,601(-) G/A 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs114025668 pathogenic, uncertain-significance, Partial adenosine deaminase deficiency, Severe combined immunodeficiency due to ADA deficiency, Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] 44,623,042(-) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs11555566 likely-benign, benign, Severe combined immunodeficiency due to ADA deficiency, not specified, - 44,626,579(-) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs116962828 conflicting-interpretations-of-pathogenicity, likely-benign, Severe combined immunodeficiency due to ADA deficiency, not specified 44,622,599(-) A/G coding_sequence_variant, intron_variant, synonymous_variant
rs11906526 likely-benign, Severe combined immunodeficiency due to ADA deficiency 44,619,661(-) C/G/T 3_prime_UTR_variant, non_coding_transcript_variant

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)

Additional Variant Information for ADA Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for ADA Gene

MalaCards: The human disease database

(59) MalaCards diseases for ADA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
  • scid due to ada deficiency
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
omenn syndrome
  • os
adenosine deaminase deficiency
  • severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
pleural tuberculosis
  • pearly disease
- 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)

Additional Disease Information for ADA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 HK … Colgan SP (Blood 2006) 3 4 23 56
  2. Genetic predisposition of responsiveness to therapy for chronic hepatitis C. (PMID: 16886895) Hwang Y … Chen DS (Pharmacogenomics 2006) 3 23 43 56
  3. A functional genetic variation of adenosine deaminase affects the duration and intensity of deep sleep in humans. (PMID: 16221767) Rétey JV … Landolt HP (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 23 56
  4. Cell surface adenosine deaminase binds and stimulates plasminogen activation on 1-LN human prostate cancer cells. (PMID: 15016824) Gonzalez-Gronow M … Pizzo SV (The Journal of biological chemistry 2004) 3 4 23 56
  5. Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies. (PMID: 11121182) Persico AM … Keller F (American journal of medical genetics 2000) 3 23 43 56

ExternalLinks

View latest publications for ADA gene in Mastermind

Products for ADA Gene

  • Addgene plasmids for ADA

Sources for ADA Gene