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Aliases & Descriptions for ADA
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| | | Descriptions |
|---|
| Adenosine aminohydrolase 2, 3 | | adenosine deaminase 2 |
|
| | Search outside databases for aliases for ADA genePrevious GC identifers: GC20M042976 GC20M043886 GC20M043933 |
Summaries for ADA(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ADA: 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] Gene Wiki entry for ADA (Adenosine_deaminase) |
Genomic Location for ADA
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ADA gene 
Entrez Gene cytogenetic band: 20q12-q13.11 Ensembl cytogenetic band: 20q13.12 HGNC cytogenetic band: 20q13.12ADA Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20M042681:
(about GC identifiers)
Start:
|
42,681,577 bp from pter |
End:
|
42,713,795 bp from pter |
Size:
|
32,219 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000020.9 NT_011362.9
| Proteins for ADA
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ADA_HUMAN, P00813 (See
protein sequence)Recommended Name: Adenosine deaminase Size: 363 amino acids; 40764 Da
PDB structures from and Proteopedia :1M7M (3D)
 
Secondary accessions: Q53F92 Q6LA59Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000013.2
ENSEMBL proteins: ENSP00000379993 ENSP00000361965
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for ADA: Assays for ADA: | Protein
Domains/ Families for ADA(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P00813
ProtoNet protein and cluster: P00813 1 Blocks protein family: IPB006650 Adenosine/AMP deaminase active site
UniProtKB/Swiss-Prot: ADA_HUMAN, P00813Similarity: Belongs to the adenosine and AMP deaminases family | Gene Function for ADA
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000022
Applied Biosystems Silencer® siRNAs for ADA
Sigma-Aldrich siRNA and siRNA Panels for ADA  Sigma-Aldrich shRNA Panels and shRNA for ADA  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000022                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000022                                  untagged cDNA clones in CMV expression vector (see all 2): AL832305 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000022
UniProtKB/Swiss-Prot: ADA_HUMAN, P00813Catalytic activity: Adenosine + H(2)O = inosine + NH(3)Enzyme Number (IUBMB): EC 3.5.4.4 Genatlas biochemistry entry for ADA:adenosine deaminase,adenine nucleotide catalytic pathway,including a locus control region LCR-ADA (see symbol) in intron 113 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Ada):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for ADA
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
2 Sigma-Aldrich "Your Favorite Gene" Pathways for ADA (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for ADA 
5/77 Interacting proteins for ADA (ENSP000003619653) via UniProtKB, MINT, and/or STRING (see all 77
)About this table
5/26 Gene Ontology (GO) biological process terms (links to tree view) (see all 26
): About this table
|
Drugs & Compounds for ADA(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  | Sigma-Aldrich Small Molecules for ADA: Inhibitor |
Compounds for ADA available from Tocris Bioscience About this table
10/48 Novoseek chemical compound relationships for ADA gene (see all 48
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| inosine |
88.69 |
100 |
15299191 (2), 11217148 (2), 1791825 (1), 9463389 (1) (see all 70) |
| deoxyadenosine |
87.94 |
114 |
8726940 (6), 2303314 (3), 1373528 (2), 15804573 (2) (see all 59) |
| erythro-9-(2 hydroxy 3-nonyl)adenine |
87.89 |
74 |
2002459 (3), 8519602 (2), 2382828 (2), 9399998 (2) (see all 29) |
| purine |
82.74 |
139 |
1793856 (2), 1679757 (2), 19179314 (2), 2125239 (1) (see all 83) |
| 1-deazaadenosine |
81.47 |
5 |
8439534 (2), 18543763 (1), 1731884 (1) |
| nucleoside |
70.07 |
29 |
8113801 (3), 7599155 (2), 8501937 (1), 11426528 (1) (see all 22) |
| deoxyinosine |
69.80 |
10 |
15508788 (1), 14555239 (1), 15907156 (1), 10596453 (1) (see all 6) |
| 2-amino-6-chloropurine |
68.75 |
2 |
16359173 (1) |
| 2 chloroadenosine |
68.63 |
15 |
18242582 (1), 8995360 (1), 7687130 (1), 8875454 (1) (see all 9) |
| 5'-amino-5'-deoxyadenosine |
68.59 |
2 |
8605954 (1), 8832217 (1) |
About this table
1 PharmGKB drug compound relationship for ADA gene
| Drug compound |
PharmGKB Relations |
PubMed IDs for articles supporting these relationships |
| methotrexate | FA   | 8254024 | About this table
|
Transcripts for ADA(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000022
Sigma-Aldrich siRNA and siRNA Panels for ADA  Sigma-Aldrich shRNA Panels and shRNA for ADA  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000022 REFSEQ mRNAs for ADA gene: NM_000022.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000022               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000022                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000022                                  untagged cDNA clones in CMV expression vector (see all 2): AL832305  Additional cDNA sequence: AK223397.1 BC007678.2 BC040226.1 CR590997.1 CR597186.1 CR597421.1 CR606425.1 CR607668.1 CR609012.1 CR609053.1 CR610127.1 CR611818.1 CR612145.1 CR615818.1 CR618876.1 CR619472.1 CR621286.1 CR622485.1 CR622953.1 CR623349.1 X02994.1 12 DOTS entries: DT.100821717 DT.454795 DT.100821712 DT.91762938 DT.100821720 DT.100821718 DT.100728740 DT.100821723 DT.101982853 DT.91946218 DT.120810355 DT.120810467 24/176 AceView cDNA sequences (see all 176
):BU197309 CR618876 AW450871 BC040226 BU727033 CR597186 AK123988 BF982134 AA354600 T28970 AA309696 CR622485 CN484969 CR619472 CR612145 CR615818 NM_000022 BQ002923 BQ772534 BM463492 AL832305 CR610127 AL557287 CR597421
highest scoring ESTs for ADA:X02994 AA312512 AL526282 BC007678 BC040226 BE407945 BE727733 BE728751 BE732464 BE733449 Unigene Cluster for ADA: Adenosine deaminase Hs.654536 [show with all ESTs]Unigene Representative Sequence: BM809993
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for ADA
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for ADA
2 Ensembl transcripts including schematic representations: ENST00000396772
ENST00000372874
|
Expression for ADA
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ADA expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ADA
1 / 2 / 3 6 probe-sets matching ADA gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GCTGGTGGCA
SOURCE GeneReport for Unigene cluster: Hs.654536
Expression variation in blood from EXPOLDB for ADA UniProtKB/Swiss-Prot: ADA_HUMAN, P00813Tissue specificity: Found in all tissues, occurs in large amounts in T-lymphocytes and, at the time of weaning, in gastrointestinal tissues |
Orthologs for ADA
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ADA gene from 5/13 species (see all 13
)
About this table Species with no ortholog for ADA
ENSEMBL Gene Tree for ADA | Paralogs for ADA(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for ADA(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: ADA_HUMAN, P00813Polymorphism: 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
HapMap Linkage Disequilibrium images for ADA (up to first 250kb)
|
Disorders & Mutations for ADA
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 608958 disorders: 102700 102700 UniProtKB/Swiss-Prot: ADA_HUMAN, P00813
Defects in ADA are the cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]. 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-SCID is an autosomal recessive form accounting for about 50% of non-X-linked SCIDs. 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 In hereditary hemolytic anemia, the level of this enzyme in erythrocytes increases 50-70 times10/96 Novoseek disease relationships for ADA gene (see all 96
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| adenosine deaminase deficiency |
97.70 |
178 |
8879650 (3), 14612670 (3), 18020547 (3), 10202239 (2) (see all 99) |
| pleurisy tuberculous |
91.81 |
104 |
18222681 (6), 12921155 (4), 8726940 (4), 9513525 (3) (see all 51) |
| severe combined immunodeficiency |
88.66 |
189 |
10202239 (2), 8258146 (2), 9364370 (2), 8120281 (2) (see all 99) |
| tuberculous ascites |
84.38 |
22 |
12947727 (6), 8729756 (3), 16800787 (2), 2389724 (2) (see all 9) |
| pericarditis tuberculous |
82.30 |
35 |
11173777 (4), 8312671 (3), 12226030 (2), 17625694 (2) (see all 18) |
| pleurisy |
81.06 |
92 |
1392176 (5), 2149157 (3), 16447785 (3), 12915746 (3) (see all 39) |
| effusion |
80.42 |
377 |
11502629 (10), 12608433 (7), 8656037 (7), 16737998 (6) (see all 99) |
| peritonitis tuberculous |
79.84 |
50 |
7698702 (5), 2219461 (4), 8938171 (4), 11466036 (3) (see all 22) |
| meningitis tuberculous |
71.53 |
46 |
7837719 (5), 17333738 (3), 2028233 (3), 8935128 (3) (see all 21) |
| tuberculosis |
71.40 |
182 |
12685967 (4), 10893921 (4), 10596453 (4), 8584540 (4) (see all 98) |
About this table
2 PharmGKB disease relationships for ADA geneAbout this table
Genatlas disease: ADA 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) GeneTests: ADA Adenosine Deaminase Deficiency Human Gene Mutation Database: ADA Genetic Association Database: ADA Human Genome Epidemiology Navigator: ADA (27 documents)
|
Medical News for ADA(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for ADA (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/1111 PubMed articles for ADA gene (see all 1111
):- Human adenosine deaminase. cDNA and complete primary amino acid sequence. (PubMed id 6090454)2, 3, 4 Daddona P.E....Orkin S.H. (1984)
- Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes. (PubMed id 9225964)1, 3, 4 Hirschhorn R.... Jenkins T. (1997)
- Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. (PubMed id 8589684)1, 3, 4 Santisteban I....Hershfield M.S. (1995)
- Genetic polymorphism and TH1/TH2 orientation. (PubMed id 16224193)1, 3, 6 Bottini N....Bottini E. (2005)
- The role of adenosine-related genes variants in susceptibility to essential hypertension. (PubMed id 15257174)1, 3, 6 Wright K....Griffiths L.R. (2004)
- A functional genetic variation of adenosine deaminase affects the duration and intensity of deep sleep in humans. (PubMed id 16221767)1, 3, 4 Retey J.V.... Landolt H.-P. (2005)
- Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies. (PubMed id 11121182)1, 3, 6 Persico A.M....Keller F. (2000)
- Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. (PubMed id 7599635)1, 3, 4 Santisteban I.... Hershfield M.S. (1995)
- Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID). (PubMed id 8299233)1, 3, 4 Yang D.R.... Hirschhorn R. (1994)
- Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. (PubMed id 8227344)1, 3, 4 Santisteban I.... Hershfield M.S. (1993)
|
Search for ADA
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ADA
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ADA
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ADA(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| ADAbase | http://bioinf.uta.fi/ADAbase/ | | GeneReviews | http://www.genetests.org/query?gene=ADA | | Wikipedia | http://en.wikipedia.org/wiki/Adenosine_deaminase |
|
| | | About This Section
| --
| Services for ADA(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for ADA:

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Incremental update: 13 Oct 2009
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