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Aliases for ADA2 Gene

Aliases for ADA2 Gene

  • Adenosine Deaminase 2 2 3
  • Cat Eye Syndrome Chromosome Region, Candidate 1 2 3 5
  • CECR1 3 4 5
  • Cat Eye Syndrome Critical Region Protein 1 3 4
  • IDGFL 3 4
  • ADGF 3 4
  • Adenosine Deaminase CECR1 3
  • EC 3.5.4.4 4
  • SNEDS 3
  • PAN 3

External Ids for ADA2 Gene

Previous HGNC Symbols for ADA2 Gene

  • IDGFL
  • CECR1

Summaries for ADA2 Gene

Entrez Gene Summary for ADA2 Gene

  • This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for ADA2 Gene

ADA2 (Adenosine Deaminase 2) is a Protein Coding gene. Diseases associated with ADA2 include Sneddon Syndrome and Polyarteritis Nodosa, Childhood-Onset. Among its related pathways are Innate Immune System and Metabolism of proteins.

UniProtKB/Swiss-Prot for ADA2 Gene

  • Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.

Gene Wiki entry for ADA2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADA2 Gene

Genomics for ADA2 Gene

Regulatory Elements for ADA2 Gene

Enhancers for ADA2 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
GH22G017198 0.7 ENCODE 76.7 +22.7 22685 2.5 CTCF MAX ZNF384 RBBP5 ZFHX2 POLR2A EGR2 RFX1 EP300 NR2F2 ADA2 CECR3 CECR2 CECR6 LINC01664 GC22P017193 GC22M017211
GH22G017216 1.4 FANTOM5 Ensembl ENCODE 11.1 +3.0 2970 5.7 PKNOX1 ZBTB40 ZNF121 RELB ETV6 IKZF2 CEBPB JUNB TBX21 SP1 CECR3 CECR2 ADA2 ATP6V1E1 BCL2L13 IL17RA GC22P017216
GH22G017074 1.3 Ensembl ENCODE dbSUPER 10.5 +146.6 146564 1.2 ARNT KLF17 RAD21 SCRT2 FOS ZNF391 EGR2 ZNF654 YY2 REST CECR7 CECR6 LINC01664 ADA2 CECR3 ENSG00000273442 ENSG00000273203
GH22G017475 1.1 Ensembl ENCODE 11 -255.0 -255007 2.0 HDAC1 PKNOX1 ATF1 DMAP1 ZNF366 SCRT2 KLF7 CREM ZNF263 SP3 CECR2 CECR3 ADA2 GC22M017518 CLCP1
GH22G017241 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6 -20.9 -20937 3.0 HDGF TBP PKNOX1 TBL1XR1 ZSCAN4 RELB CREM EGR2 JUNB TBX21 ADA2 BCL2L13 CECR2 IL17RA CECR3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADA2 Gene

Chromosome:
22
Start:
17,178,790 bp from pter
End:
17,221,989 bp from pter
Size:
43,200 bases
Orientation:
Minus strand

Genomic View for ADA2 Gene

Genes around ADA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADA2 Gene

Proteins for ADA2 Gene

  • Protein details for ADA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZK5-CECR1_HUMAN
    Recommended name:
    Adenosine deaminase CECR1
    Protein Accession:
    Q9NZK5
    Secondary Accessions:
    • A8K9H4
    • Q6ICF1
    • Q86UB6
    • Q8NCJ2
    • Q96K41

    Protein attributes for ADA2 Gene

    Size:
    511 amino acids
    Molecular mass:
    58934 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer. Interacts with adenosine receptors. Binds heparin.
    Miscellaneous:
    • Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

    Three dimensional structures from OCA and Proteopedia for ADA2 Gene

    Alternative splice isoforms for ADA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADA2 Gene

Post-translational modifications for ADA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for ADA2

No data available for DME Specific Peptides for ADA2 Gene

Domains & Families for ADA2 Gene

Gene Families for ADA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZK5

UniProtKB/Swiss-Prot:

CECR1_HUMAN :
  • The PRB domain is involved in receptor binding, and may be responsible for the cytokine-like growth factor activity due to its sharing of several structural properties with chemokines.
  • Belongs to the adenosine and AMP deaminases family. ADGF subfamily.
Domain:
  • The PRB domain is involved in receptor binding, and may be responsible for the cytokine-like growth factor activity due to its sharing of several structural properties with chemokines.
  • High-affinity binding to heparin/glycosaminoclycan (GAG) is mediated by a large, highly positively charged surface at the interface of dimers subunits involving approximately residues 30-45, 389-396, and 422-428.
Family:
  • Belongs to the adenosine and AMP deaminases family. ADGF subfamily.
genes like me logo Genes that share domains with ADA2: view

Function for ADA2 Gene

Molecular function for ADA2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.25 mM for adenosine {ECO:0000269 PubMed:15926889}; pH dependence: Optimum pH is 6.6. {ECO:0000269 PubMed:15926889};
UniProtKB/Swiss-Prot CatalyticActivity:
Adenosine + H(2)O = inosine + NH(3).
UniProtKB/Swiss-Prot Function:
Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.

Enzyme Numbers (IUBMB) for ADA2 Gene

Gene Ontology (GO) - Molecular Function for ADA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004000 adenosine deaminase activity TAS --
GO:0008083 growth factor activity NAS 10756095
GO:0008201 heparin binding IEA --
GO:0008270 zinc ion binding IDA 20147294
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADA2: view
genes like me logo Genes that share phenotypes with ADA2: view

Human Phenotype Ontology for ADA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ADA2 Gene

Localization for ADA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADA2 Gene

Secreted.

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 ADA2 gene
Compartment Confidence
extracellular 5
lysosome 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ADA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 20147294
GO:0035578 azurophil granule lumen TAS --
genes like me logo Genes that share ontologies with ADA2: view

Pathways & Interactions for ADA2 Gene

genes like me logo Genes that share pathways with ADA2: view

Pathways by source for ADA2 Gene

Gene Ontology (GO) - Biological Process for ADA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006154 adenosine catabolic process IDA 20147294
GO:0007275 multicellular organism development NAS 10756095
GO:0043312 neutrophil degranulation TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with ADA2: view

No data available for SIGNOR curated interactions for ADA2 Gene

Drugs & Compounds for ADA2 Gene

(3) Drugs for ADA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine Approved, Investigational Pharma Agonist 419
Water Approved Pharma 0
Inosine Investigational Pharma 0

(1) Additional Compounds for ADA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
genes like me logo Genes that share compounds with ADA2: view

Transcripts for ADA2 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADA2 Gene

No ASD Table

Relevant External Links for ADA2 Gene

GeneLoc Exon Structure for
ADA2
ECgene alternative splicing isoforms for
ADA2

Expression for ADA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADA2 Gene:

ADA2

mRNA Expression by UniProt/SwissProt for ADA2 Gene:

Q9NZK5-CECR1_HUMAN
Tissue specificity: Detected in blood plasma (at protein level). Widely expressed, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo, expressed in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the notochord.

Evidence on tissue expression from TISSUES for ADA2 Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • meninges
  • neck
Thorax:
  • heart
Abdomen:
  • liver
  • spleen
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ADA2 Gene

Orthologs for ADA2 Gene

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

Orthologs for ADA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CECR1 34 35
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia CECR1 34 35
  • 81.04 (n)
cow
(Bos Taurus)
Mammalia CECR1 35
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CECR1 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CECR1 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves CECR1 34 35
  • 66.59 (n)
lizard
(Anolis carolinensis)
Reptilia CECR1 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr1 34
  • 66.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9687 34
zebrafish
(Danio rerio)
Actinopterygii cecr1a 34 35
  • 57.91 (n)
cecr1b 35
  • 46 (a)
OneToMany
cecr1 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12034 34
fruit fly
(Drosophila melanogaster)
Insecta Adgf-D 34 35
  • 51.65 (n)
Adgf-A 35
  • 37 (a)
OneToMany
Adgf-C 35
  • 37 (a)
OneToMany
Adgf-B 35
  • 36 (a)
OneToMany
Adgf-E 35
  • 34 (a)
OneToMany
Msi 35
  • 28 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005283 34
  • 48.1 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04642 34
  • 45.76 (n)
Species where no ortholog for ADA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ADA2 Gene

ENSEMBL:
Gene Tree for ADA2 (if available)
TreeFam:
Gene Tree for ADA2 (if available)

Paralogs for ADA2 Gene

No data available for Paralogs for ADA2 Gene

Variants for ADA2 Gene

Sequence variations from dbSNP and Humsavar for ADA2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs148936893 Pathogenic, Polyarteritis nodosa (PAN) [MIM:615688] 17,203,564(+) TCACC(A/G)GCAGC reference, missense, utr-variant-5-prime
rs200930463 Pathogenic, Polyarteritis nodosa (PAN) [MIM:615688] 17,209,538(+) GCCCC(A/C/G)CCAGC intron-variant, upstream-variant-2KB, reference, missense
rs202134424 Pathogenic, Polyarteritis nodosa (PAN) [MIM:615688] 17,209,539(+) CCCCC(A/C/G/T)CAGCC intron-variant, upstream-variant-2KB, reference, missense
rs376785840 Pathogenic, Polyarteritis nodosa (PAN) [MIM:615688] 17,181,904(+) AATCA(C/T)AGGAC reference, missense
rs587777240 Pathogenic, Polyarteritis nodosa (PAN) [MIM:615688] 17,207,287(+) AGGCA(G/T)CCCCT reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ADA2 Gene

Variant ID Type Subtype PubMed ID
esv1443377 CNV deletion 17803354
esv2673573 CNV deletion 23128226
esv2723945 CNV deletion 23290073
esv3557890 CNV deletion 23714750
esv3647209 CNV gain 21293372
esv3647210 CNV gain 21293372
esv3893425 CNV loss 25118596
esv3893427 CNV gain 25118596
nsv1055243 CNV loss 25217958
nsv1064641 CNV gain 25217958
nsv1067241 CNV loss 25217958
nsv1123573 CNV deletion 24896259
nsv191229 CNV deletion 16902084
nsv191400 CNV deletion 16902084
nsv509805 CNV insertion 20534489
nsv519933 CNV loss 19592680
nsv520588 CNV loss 19592680
nsv528777 CNV loss 19592680
nsv979629 CNV duplication 23825009

Variation tolerance for ADA2 Gene

Residual Variation Intolerance Score: 47.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.29; 76.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADA2 Gene

Disorders for ADA2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ADA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
sneddon syndrome
  • idiopathic livedo reticularis with systemic involvement
polyarteritis nodosa, childhood-onset
  • polyarteritis nodosa
polyarteritis nodosa
  • pan
behcet syndrome
  • behcet's disease
adenosine deaminase 2 deficiency
  • polyarteritis nodosa, childhood-onset
- elite association - COSMIC cancer census association via MalaCards
Search ADA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CECR1_HUMAN
  • Polyarteritis nodosa (PAN) [MIM:615688]: A systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly. {ECO:0000269 PubMed:24552284, ECO:0000269 PubMed:24552285}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sneddon syndrome (SNDDS) [MIM:182410]: A systemic non-inflammatory thrombotic vasculopathy characterized by the association of livedo racemosa, and in some cases livedo reticularis, with cerebrovascular disease. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting the legs, the arms, the buttocks and the trunk; livedo reticularis is limited to the extremities and is visible only in the cold. Cerebrovascular features include recurrent transient ischemic attacks, infarcts, and rarely spinal strokes or intracranial or subarachnoid hemorrhages. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. Rare neurologic symptoms include seizures, chorea, or myelopathies. {ECO:0000269 PubMed:25075847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ADA2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADA2
genes like me logo Genes that share disorders with ADA2: view

No data available for Genatlas for ADA2 Gene

Publications for ADA2 Gene

  1. The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome. (PMID: 10756095) Riazi M.A. … McDermid H.E. (Genomics 2000) 2 3 4 22 64
  2. Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells. (PMID: 27663683) Kaljas Y. … Zavialov A.V. (Cell. Mol. Life Sci. 2016) 2 3 64
  3. Early-onset stroke and vasculopathy associated with mutations in ADA2. (PMID: 24552284) Zhou Q. … Aksentijevich I. (N. Engl. J. Med. 2014) 3 4 64
  4. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. (PMID: 24552285) Navon Elkan P. … Levy-Lahad E. (N. Engl. J. Med. 2014) 3 4 64
  5. Structural basis for the growth factor activity of human adenosine deaminase ADA2. (PMID: 20147294) Zavialov A.V. … Zavialov A.V. (J. Biol. Chem. 2010) 3 4 64

Products for ADA2 Gene

Sources for ADA2 Gene

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