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    ADA2 adenosine deaminase 2 [ Homo sapiens (human) ]

    Gene ID: 51816, updated on 2-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. 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
    3. 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
    4. 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
    5. Adenosine Deaminase 2 Deficiency. Adam MP, et al. , 1993. PMID 31393689

    See all (81) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.
      Title: Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.
    2. Deficiency of adenosine deaminase 2 (DADA2): Review.
      Title: Deficiency of adenosine deaminase 2 (DADA2): Review.
    3. 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.
    4. 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.
    5. A Cohort Study on Deficiency of ADA2 from China.
      Title: A Cohort Study on Deficiency of ADA2 from China.
    6. 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.
    7. 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.
    8. 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.
    9. 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).
    10. Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series.
      Title: Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series.
    Submit: New GeneRIF Correction See all GeneRIFs (59)

    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
    		Compare labs
    Vasculitis due to ADA2 deficiency
    MedGen: C3887654 OMIM: 615688 GeneReviews: Adenosine Deaminase 2 Deficiency
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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