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Aliases for ADA2 Gene

Aliases for ADA2 Gene

  • Adenosine Deaminase 2 2 3 3 5
  • Cat Eye Syndrome Chromosome Region, Candidate 1 2 3
  • Cat Eye Syndrome Critical Region Protein 1 3 4
  • CECR1 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 Pyrimidine metabolism (KEGG) and Innate Immune System.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ADA2 Gene

Promoters and enhancers for ADA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J017216 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 661.2 +3.0 2970 5.7 ZSCAN18 PKNOX1 RB1 EBF1 BATF RELA POLR2A EED ETV6 IKZF2 ADA2 CECR3 CECR2 ATP6V1E1 BCL2L13 IL17RA GC22P017216
GH22J017198 Promoter/Enhancer 1.1 Ensembl ENCODE 76.7 +22.7 22685 2.5 RFX1 SOX6 MAX SIN3A SP1 ZFHX2 POLR2A ZNF341 HNF4A KDM1A ADA2 CECR3 CECR2 TMEM121B LINC01664 GC22P017193 GC22M017211
GH22J017074 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.5 +146.6 146563 1.2 ARNT KLF17 RAD21 ZNF335 ARID2 SCRT2 EGR2 ZNF654 YY2 REST CECR7 TMEM121B LINC01664 ADA2 CECR3 ENSG00000273203 ENSG00000273442
GH22J017475 Enhancer 1 Ensembl ENCODE 11 -255.0 -255007 2 HDAC1 PKNOX1 ATF1 ZNF335 ZNF366 KLF7 ATF7 CREM SP3 CEBPB CECR2 CECR3 ADA2 GC22M017518 CLCP1
GH22J017228 Enhancer 0.8 FANTOM5 11.7 -6.9 -6933 0.1 FOXA2 MAX CEBPG ZNF644 RAD21 ZNF7 ZKSCAN1 YY1 EGR1 TFE3 ADA2 IL17RA BCL2L13 CECR3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADA2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ADA2 Gene

Genomic Locations for ADA2 Gene
chr22:17,178,790-17,221,989
(GRCh38/hg38)
Size:
43,200 bases
Orientation:
Minus strand
chr22:17,660,192-17,702,879
(GRCh37/hg19)
Size:
42,688 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-ADA2_HUMAN
    Recommended name:
    Adenosine deaminase 2
    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

No data available for DME Specific Peptides for ADA2 Gene

Domains & Families for ADA2 Gene

Gene Families for ADA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ADA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZK5

UniProtKB/Swiss-Prot:

ADA2_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 metallo-dependent hydrolases superfamily. 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 metallo-dependent hydrolases superfamily. 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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Adenosine + H(2)O = inosine + NH(3).
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};

Enzyme Numbers (IUBMB) for ADA2 Gene

Phenotypes From GWAS Catalog 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 IBA,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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADA2

Clone Products

No data available for Animal Models , 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:0005829 NOT cytosol IBA --
GO:0035578 azurophil granule lumen TAS --
genes like me logo Genes that share ontologies with ADA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADA2 Gene

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:0010469 regulation of signaling receptor activity IEA --
GO:0043103 hypoxanthine salvage IBA --
GO:0043312 neutrophil degranulation 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

(4) Drugs for ADA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine Approved, Investigational Pharma Agonist, Channel blocker 551
Ammonia Approved Pharma 0
Inosine Approved, Investigational Pharma 0
Water Approved Pharma 0
genes like me logo Genes that share compounds with ADA2: view

Transcripts for ADA2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADA2

Clone 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-ADA2_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
Regions:
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 33
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CECR1 34 33
  • 81.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CECR1 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CECR1 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CECR1 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves CECR1 34 33
  • 66.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CECR1 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cecr1 33
  • 66.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9687 33
zebrafish
(Danio rerio)
Actinopterygii cecr1a 34 33
  • 57.91 (n)
OneToMany
cecr1b 34
  • 46 (a)
OneToMany
cecr1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12034 33
fruit fly
(Drosophila melanogaster)
Insecta Adgf-D 34 33
  • 51.65 (n)
OneToMany
Adgf-C 34
  • 37 (a)
OneToMany
Adgf-A 34
  • 37 (a)
OneToMany
Adgf-B 34
  • 36 (a)
OneToMany
Adgf-E 34
  • 34 (a)
OneToMany
Msi 34
  • 28 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005283 33
  • 48.1 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04642 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ADA2: view image

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 Variation AA Info Type
rs144447953 likely-benign, Polyarteritis nodosa, childhoood-onset 17,188,349(-) G/A/C/T coding_sequence_variant, synonymous_variant
rs146597836 pathogenic, likely-benign, Behcet's syndrome, Polyarteritis nodosa, childhoood-onset 17,189,987(-) C/T coding_sequence_variant, missense_variant
rs148936893 pathogenic, Polyarteritis nodosa, childhoood-onset, Polyarteritis nodosa (PAN) [MIM:615688] 17,203,564(-) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs199614299 pathogenic, Behcet's syndrome 17,209,533(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant
rs200930463 pathogenic, Polyarteritis nodosa, childhoood-onset, not provided, Polyarteritis nodosa (PAN) [MIM:615688] 17,209,538(-) C/A/G coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant

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)

Additional Variant Information for ADA2 Gene

Human Gene Mutation Database (HGMD)
ADA2
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

(9) MalaCards diseases for ADA2 Gene - From: HGMD, LncRNADisease, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
sneddon syndrome
  • livedo reticularis and cerebrovascular accidents
polyarteritis nodosa, childhood-onset
  • pan
behcet syndrome
  • behcet disease; bd
kaposi sarcoma
  • kaposi sarcoma, susceptibility to
polyarteritis nodosa
  • pan
- elite association - COSMIC cancer census association via MalaCards
Search ADA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADA2_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.

Additional Disease Information for 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 MA … McDermid HE (Genomics 2000) 2 3 4 22 58
  2. Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells. (PMID: 27663683) Kaljas Y … Zavialov AV (Cellular and molecular life sciences : CMLS 2017) 2 3 58
  3. Early-onset stroke and vasculopathy associated with mutations in ADA2. (PMID: 24552284) Zhou Q … Aksentijevich I (The New England journal of medicine 2014) 3 4 58
  4. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. (PMID: 24552285) Navon Elkan P … Levy-Lahad E (The New England journal of medicine 2014) 3 4 58
  5. Structural basis for the growth factor activity of human adenosine deaminase ADA2. (PMID: 20147294) Zavialov AV … Zavialov AV (The Journal of biological chemistry 2010) 3 4 58

Products for ADA2 Gene

Sources for ADA2 Gene

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