Aliases for ADA Gene
External Ids for ADA Gene
- HGNC: 186
- Entrez Gene: 100
- Ensembl: ENSG00000196839
- OMIM: 608958
- UniProtKB: P00813
Previous GeneCards Identifiers for ADA Gene
- GC20M042976
- GC20M043886
- GC20M043933
- GC20M042681
- GC20M043248
- GC20M039989
Summaries 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 Omenn Syndrome. Among its related pathways are C-MYB transcription factor network and Pyrimidine metabolism (KEGG). Gene Ontology (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).
-
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.
Additional gene information for ADA Gene
- Monarch Initiative
- Search for ADA at DataMed
- Search for ADA at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
Regulatory Element Products
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:
-
- 20q13.12 by Entrez Gene
- 20q13.12 by HGNC
- 20q13.12 by Ensembl
ADA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for ADA Gene
Post-translational modifications for ADA Gene
Other Protein References for ADA Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for ADA (Adenosine Deaminase/ADA)
-
Custom Antibody ServicesOriGene Antibodies for ADA
- Novus Biologicals Antibodies for ADA
-
Abcam antibodies for ADA
- Invitrogen Antibodies for ADA (AFLGC-ADA)
- GeneTex ADA Antibody for ADA
-
Santa Cruz Biotechnology (SCBT) Antibodies for ADA
- Sino Biological Antibodies for ADA
Protein Products
- R&D Systems Proteins and Enzymes for ADA (Adenosine Deaminase/ADA)
-
OriGene Purified Proteins for ADA
- Search Origene for MassSpec and Protein Over-expression Lysates for ADA
- Origene Custom Protein Services for ADA
- Sino Biological Recombinant Proteins for ADA
- Sino Biological Cell Lysates for ADA
- ProSpec Recombinant Proteins for ADA
- Search GeneTex for Proteins for ADA
-
Abcam proteins for ADA
Assay Products
- Novus Biologicals ELISA Kits for ADA
-
Boster Bio ELISA Kits for ADA
-
Abcam assays for ADA
No data available for DME Specific Peptides for ADA Gene
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ADA Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P00813UniProtKB/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.
Function for ADA Gene
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:
- 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 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
| 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 | IEA,ISS | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for ADA Gene
- MGI mutant phenotypes for ADA:
-
inferred from 2 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for ADA:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ADA
-
CRISPR Products
-
OriGene CRISPR knockouts for ADA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADA
- genomics-online: gRNA clones - Search results for 146 available ADA gene related products
- Overview of 146 available ADA gene related products
- Applied Biological Materials CRISPR for ADA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ADA
- GenScript: Design CRISPR guide RNA sequences for ADA
miRNA for ADA Gene
- miRTarBase miRNAs that target ADA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ADA
- Browse OriGene Inhibitory RNA Products For ADA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADA
- genomics-online: shRNA clones - Search results for 146 available ADA gene related products
- Overview of 146 available ADA gene related products
Clone Products
- Sino Biological Human cDNA Clone for ADA
- Addgene plasmids for ADA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADA
- Applied Biological Materials Clones for ADA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ADA
No data available for Phenotypes From GWAS Catalog , 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| lysosome | 5 |
| extracellular | 4 |
| nucleus | 3 |
| mitochondrion | 2 |
| peroxisome | 2 |
- Plasma membrane (3)
- Cytosol (2)
| 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 | -- |
Pathways & Interactions for ADA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Purine metabolism |
.01
|
|
| 2 | Pyrimidine metabolism (KEGG) | ||
| 3 | Metabolism |
.37
|
|
| 4 | One carbon pool by folate | ||
| 5 | Primary immunodeficiency | ||
Pathways by source for ADA Gene
8 BioSystems pathways for ADA Gene
4 Reactome pathways for ADA Gene
2 PharmGKB pathways for ADA Gene
3 KEGG pathways for ADA Gene
2 GeneGo (Thomson Reuters) pathways for ADA Gene
Interacting Proteins for ADA Gene
GPS-Prot Interaction Network for ADA
| 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 | -- |
No data available for SIGNOR curated interactions for ADA Gene
Drugs & Compounds for ADA Gene
(106) Drugs for ADA Gene - From: DrugBank, 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 | 55 | |
| Dipyridamole | Approved | Pharma | Inhibition, Inhibitor, inhibitor, Target | Adenosine transport inhibitor | 84 | |
| Nelarabine | Approved, Investigational | Pharma | Enzyme, substrate | Prodrug of ara-G for T-LBL/T-ALL | 0 | |
| Theophylline | Approved | Pharma | Antagonist, Enzyme, inhibitor, inducer | 67 | ||
| Vidarabine | Approved, Investigational | Pharma | Enzyme, substrate | 542 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| deoxyadenosine |
|
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 |
Drug Products
Transcripts for ADA Gene
mRNA/cDNA for ADA Gene
- (3) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (176) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000464097 1770 bps (uc061xfj.1)
- ENST00000372874 1539 bps (uc002xmj.4)
- ENST00000536532 1356 bps (uc061xfk.1)
- ENST00000492931 1276 bps (uc061xfl.1)
- ENST00000539235 812 bps (uc061xfn.1)
CRISPR Products
-
OriGene CRISPR knockouts for ADA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ADA
- genomics-online: gRNA clones - Search results for 146 available ADA gene related products
- Overview of 146 available ADA gene related products
- Applied Biological Materials CRISPR for ADA
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ADA
- GenScript: Design CRISPR guide RNA sequences for ADA
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ADA
- Browse OriGene Inhibitory RNA Products For ADA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADA
- genomics-online: shRNA clones - Search results for 146 available ADA gene related products
- Overview of 146 available ADA gene related products
Clone Products
- Sino Biological Human cDNA Clone for ADA
- Addgene plasmids for ADA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ADA
- Applied Biological Materials Clones for ADA
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||
| SP4: |
Expression for ADA Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Hematopoietic System)
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
- Neural Crest (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
- Bone (Muscoskeletal System)
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
NURSA nuclear receptor signaling pathways regulating expression of ADA Gene:
ADASOURCE GeneReport for Unigene cluster for ADA Gene:
Hs.654536mRNA 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
Primer Products
-
OriGene qPCR primer pairs for ADA
-
OriGene qPCR primer pairs and template standards for ADA
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ADA 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ADA 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ADA 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Ada 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ADA 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ada 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ADA 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ADA 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ADA 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ada 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ada 34 33 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9899 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C06G3.5 34 33 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AAH1 36 34 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E23167g 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | dea2 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| -- 34 |
|
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
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.
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs114025668 | pathogenic, not-provided, 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 | conflicting-interpretations-of-pathogenicity, 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, Severe combined immunodeficiency due to ADA deficiency | 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 | |
| rs121908714 | not-provided, pathogenic, 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], Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700] | 44,626,516(-) | C/A/G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
Disorders for ADA Gene
(51) MalaCards diseases for ADA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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 |
|
|
| omenn syndrome |
|
|
| adenosine deaminase deficiency |
|
|
| pleural tuberculosis |
|
|
| tuberculous peritonitis |
|
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
Publications for ADA Gene
- 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 22 58
- Genetic predisposition of responsiveness to therapy for chronic hepatitis C. (PMID: 16886895) Hwang Y … Chen DS (Pharmacogenomics 2006) 3 22 44 58
- 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 22 58
- 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 22 58
- 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 22 44 58
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