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ADA2 adenosine deaminase 2 [ Homo sapiens (human) ]

Gene ID: 51816, updated on 12-Nov-2024

Summary

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Official Symbol
ADA2provided by HGNC
Official Full Name
adenosine deaminase 2provided by HGNC
Primary source
HGNC:HGNC:1839
See related
Ensembl:ENSG00000093072 MIM:607575; AllianceGenome:HGNC:1839
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAN; ADGF; CECR1; IDGFL; SNEDS; VAIHS
Summary
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]
Annotation information
Note: ADA2 is an official symbol GeneID: 51816 and an alias on GeneID: 6871. GeneID: 6871 is frequently referred to as ADA2 in the literature, and publications belonging to GeneID:51816 are sometimes mis-associated with GeneID: 6871 [06 Jul 2018]
Expression
Broad expression in spleen (RPKM 38.0), lymph node (RPKM 17.5) and 23 other tissues See more
Orthologs
all
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Genomic context

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See ADA2 in Genome Data Viewer
Location:
22q11.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17178790..17221848, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17855301..17898324, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17659680..17702738, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17602677-17603208 Neighboring gene long intergenic non-protein coding RNA 1664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17618528-17619235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17619236-17619942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17624261-17624761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13434 Neighboring gene haloacid dehalogenase like hydrolase domain containing 5 Neighboring gene HDHD5 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:17652055-17652556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17668835-17669336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17669337-17669836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17670725-17671225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17676210-17676725 Neighboring gene uncharacterized LOC107985573 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17679276-17679780 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:17679781-17680284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17680285-17680790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17683069-17683569 Neighboring gene ribosomal protein L32 pseudogene 5 Neighboring gene nonconserved acetylation island sequence 73 enhancer Neighboring gene family with sequence similarity 32, member B Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:17715293-17716220 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:17716221-17717146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17741695-17742280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17744419-17745245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17745246-17746072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17750393-17751381 Neighboring gene cat eye syndrome chromosome region, candidate 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13436 Neighboring gene NANOG hESC enhancer GRCh37_chr22:17764354-17764855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17768852-17769352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17787810-17788548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17788549-17789287 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62410 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:17811413-17811590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17812630-17813130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17813131-17813631 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62420 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:17822020-17822264 Neighboring gene Sharpr-MPRA regulatory region 13223 Neighboring gene RNA, 7SL, cytoplasmic 843, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Monogenic polyarteritis: the lesson of ADA2 deficiency. Caorsi R, et al. Pediatr Rheumatol Online J, 2016 Sep 8. PMID 27609179, Free PMC Article
  2. Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance. Schnappauf O, et al. J Clin Immunol, 2020 Aug. PMID 32638197, Free PMC Article
  3. Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review. Ganhão S, et al. Clin Rheumatol, 2020 Dec. PMID 32535845
  4. Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach. Zervou MI, et al. Mol Med Rep, 2020 Feb. PMID 31974608, Free PMC Article
  5. Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation. van Well GTJ, et al. Clin Exp Rheumatol, 2019 Nov-Dec. PMID 31856934

See all (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Adenosine deaminase 2 regulates the activation of the toll-like receptor 9 in response to nucleic acids.
    Title: Adenosine deaminase 2 regulates the activation of the toll-like receptor 9 in response to nucleic acids.
  2. Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.
    Title: Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.
  3. Deficiency of adenosine deaminase 2 (DADA2): Review.
    Title: Deficiency of adenosine deaminase 2 (DADA2): Review.
  4. Changes in Adenosine Deaminase Activity and Endothelial Dysfunction after Mild Coronavirus Disease-2019.
    Title: Changes in Adenosine Deaminase Activity and Endothelial Dysfunction after Mild Coronavirus Disease-2019.
  5. A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran.
    Title: A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran.
  6. A Cohort Study on Deficiency of ADA2 from China.
    Title: A Cohort Study on Deficiency of ADA2 from China.
  7. Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
    Title: Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
  8. Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2.
    Title: Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2.
  9. Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity.
    Title: Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity.
  10. Evaluation of subclinical ocular involvement in patients with deficiency of adenosine deaminase 2 (DADA2).
    Title: Evaluation of subclinical ocular involvement in patients with deficiency of adenosine deaminase 2 (DADA2).
Submit: New GeneRIF Correction See all GeneRIFs (60)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Sneddon syndrome
MedGen: C0282492 OMIM: 182410 GeneReviews: Not available
not available
Vasculitis due to ADA2 deficiency
MedGen: C3887654 OMIM: 615688 GeneReviews: Adenosine Deaminase 2 Deficiency
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2'-deoxyadenosine deaminase activity IEA
Inferred from Electronic Annotation
more info
  
enables adenosine deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables adenosine deaminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables adenosine receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables growth factor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables heparin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables proteoglycan binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in adenosine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in adenosine catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in inosine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
adenosine deaminase 2
Names
adenosine deaminase CECR1
cat eye syndrome chromosome region, candidate 1
cat eye syndrome critical region protein 1
NP_001269154.1
NP_001269155.1
NP_001269156.1
NP_001269157.1
NP_001269158.1
NP_803124.1
XP_011544435.1
XP_047297362.1
XP_047297363.1
XP_054181667.1
XP_054181668.1
XP_054181669.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033943.1 RefSeqGene

    Range
    7420..48065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1217

mRNA and Protein(s)

  1. NM_001282225.2 → NP_001269154.1  adenosine deaminase 2 isoform a precursor

    See identical proteins and their annotated locations for NP_001269154.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (a). Both variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AI523928, AK074702, CD369524, CR456417, DC391616
    Consensus CDS
    CCDS13742.1
    UniProtKB/Swiss-Prot
    A8K9H4, Q6ICF1, Q86UB6, Q8NCJ2, Q96K41, Q9NZK5
    UniProtKB/TrEMBL
    B2RAS2
    Related
    ENSP00000382731.2, ENST00000399837.8
    Conserved Domains (3) summary
    cd01321
    Location:82 → 501
    ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.
    TIGR01431
    Location:30 → 509
    adm_rel; adenosine deaminase-related growth factor
    pfam08451
    Location:12 → 102
    A_deaminase_N; Adenosine/AMP deaminase N-terminal

  2. NM_001282226.2 → NP_001269155.1  adenosine deaminase 2 isoform a precursor

    See identical proteins and their annotated locations for NP_001269155.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 3. Both variants 3 and 4 encode the longest isoform (a).
    Source sequence(s)
    AI523928, AK074702, CD369524, CR456417, DC391616
    Consensus CDS
    CCDS13742.1
    UniProtKB/Swiss-Prot
    A8K9H4, Q6ICF1, Q86UB6, Q8NCJ2, Q96K41, Q9NZK5
    UniProtKB/TrEMBL
    B2RAS2
    Related
    ENSP00000442482.2, ENST00000543038.2
    Conserved Domains (3) summary
    cd01321
    Location:82 → 501
    ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.
    TIGR01431
    Location:30 → 509
    adm_rel; adenosine deaminase-related growth factor
    pfam08451
    Location:12 → 102
    A_deaminase_N; Adenosine/AMP deaminase N-terminal

  3. NM_001282227.2 → NP_001269156.1  adenosine deaminase 2 isoform c

    See identical proteins and their annotated locations for NP_001269156.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 3. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Both variants 5 and 6 encode the same isoform.
    Source sequence(s)
    AI523928, AK074702, AK304818, CD369524, DB286859
    Consensus CDS
    CCDS63395.1
    UniProtKB/TrEMBL
    B2RAS2, B4E3Q4
    Related
    ENSP00000406443.2, ENST00000449907.8
    Conserved Domains (3) summary
    cd01321
    Location:40 → 459
    ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.
    TIGR01431
    Location:1 → 467
    adm_rel; adenosine deaminase-related growth factor
    pfam08451
    Location:1 → 60
    A_deaminase_N; Adenosine/AMP deaminase N-terminal

  4. NM_001282228.2 → NP_001269157.1  adenosine deaminase 2 isoform c

    See identical proteins and their annotated locations for NP_001269157.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 3. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Both variants 5 and 6 encode the same isoform.
    Source sequence(s)
    AI523928, AK074702, CD369524, CR456417, DC391616
    Consensus CDS
    CCDS63395.1
    UniProtKB/TrEMBL
    B2RAS2, B4E3Q4
    Related
    ENSP00000497469.1, ENST00000649540.1
    Conserved Domains (3) summary
    cd01321
    Location:40 → 459
    ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.
    TIGR01431
    Location:1 → 467
    adm_rel; adenosine deaminase-related growth factor
    pfam08451
    Location:1 → 60
    A_deaminase_N; Adenosine/AMP deaminase N-terminal

  5. NM_001282229.2 → NP_001269158.1  adenosine deaminase 2 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 3. The encoded isoform (d) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AI523928, AK074702, CD369524, CR456417, DC391616
    Consensus CDS
    CCDS74809.1
    UniProtKB/TrEMBL
    A0A087X0I3
    Related
    ENSP00000483418.1, ENST00000610390.5
    Conserved Domains (1) summary
    cd01321
    Location:81 → 381
    ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.

  6. NM_177405.3 → NP_803124.1  adenosine deaminase 2 isoform b

    See identical proteins and their annotated locations for NP_803124.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 3. The resulting isoform (b) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AI523928, AK074702, AK304818, CD369524, DA864284, DB130953
    Consensus CDS
    CCDS13743.1
    UniProtKB/TrEMBL
    A0A8Q3WM36
    Related
    ENSP00000332871.4, ENST00000330232.9
    Conserved Domains (1) summary
    cl00281
    Location:7 → 260
    metallo-dependent_hydrolases; Superfamily of metallo-dependent hydrolases (also called amidohydrolase superfamily) is a large group of proteins that show conservation in their 3-dimensional fold (TIM barrel) and in details of their active site. The vast majority of the members have a ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    17178790..17221848 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011546133.3 → XP_011544435.1  adenosine deaminase 2 isoform X1

    See identical proteins and their annotated locations for XP_011544435.1

    UniProtKB/Swiss-Prot
    A8K9H4, Q6ICF1, Q86UB6, Q8NCJ2, Q96K41, Q9NZK5
    UniProtKB/TrEMBL
    B2RAS2
    Related
    ENSP00000382733.1, ENST00000399839.5
    Conserved Domains (3) summary
    cd01321
    Location:82 → 501
    ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.
    TIGR01431
    Location:30 → 509
    adm_rel; adenosine deaminase-related growth factor
    pfam08451
    Location:12 → 102
    A_deaminase_N; Adenosine/AMP deaminase N-terminal

  2. XM_047441407.1 → XP_047297363.1  adenosine deaminase 2 isoform X3

  3. XM_047441406.1 → XP_047297362.1  adenosine deaminase 2 isoform X2

    Related
    ENSP00000512492.1, ENST00000696226.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    17855301..17898324 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325692.1 → XP_054181667.1  adenosine deaminase 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K9H4, Q6ICF1, Q86UB6, Q8NCJ2, Q96K41, Q9NZK5

  2. XM_054325694.1 → XP_054181669.1  adenosine deaminase 2 isoform X3

  3. XM_054325693.1 → XP_054181668.1  adenosine deaminase 2 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017424.2: Suppressed sequence

    Description
    NM_017424.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NZK5.2 GenPept UniProtKB/Swiss-Prot:Q9NZK5

Gene LinkOut

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