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    ADA2 adenosine deaminase 2 [ Homo sapiens (human) ]

    Gene ID: 51816, updated on 17-Jul-2021

    Summary

    Official Symbol
    ADA2provided by HGNC
    Official Full Name
    adenosine deaminase 2provided by HGNC
    Primary source
    HGNC:HGNC:1839
    See related
    Ensembl:ENSG00000093072 MIM:607575
    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: 687. 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
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    Genomic context

    See ADA2 in Genome Data Viewer
    Location:
    22q11.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (17178790..17221854, complement)
    105.20201022 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 long intergenic non-protein coding RNA 1664 Neighboring gene haloacid dehalogenase like hydrolase domain containing 5 Neighboring gene HDHD5 antisense RNA 1 Neighboring gene uncharacterized LOC107985573 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 cat eye syndrome chromosome region, candidate 3 Neighboring gene RNA, 7SL, cytoplasmic 843, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenosine deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 
    involved_in multicellular organism development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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_006724143.1
    XP_011544435.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001282225.2NP_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
      Q9NZK5
      Related
      ENSP00000382731.2, ENST00000399837.8
      Conserved Domains (3) summary
      cd01321
      Location:82501
      ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.
      TIGR01431
      Location:30509
      adm_rel; adenosine deaminase-related growth factor
      pfam08451
      Location:12102
      A_deaminase_N; Adenosine/AMP deaminase N-terminal
    2. NM_001282226.2NP_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
      Q9NZK5
      Conserved Domains (3) summary
      cd01321
      Location:82501
      ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.
      TIGR01431
      Location:30509
      adm_rel; adenosine deaminase-related growth factor
      pfam08451
      Location:12102
      A_deaminase_N; Adenosine/AMP deaminase N-terminal
    3. NM_001282227.2NP_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/Swiss-Prot
      Q9NZK5
      UniProtKB/TrEMBL
      B4E3Q4
      Related
      ENSP00000406443.2, ENST00000449907.7
      Conserved Domains (3) summary
      cd01321
      Location:40459
      ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.
      TIGR01431
      Location:1467
      adm_rel; adenosine deaminase-related growth factor
      pfam08451
      Location:160
      A_deaminase_N; Adenosine/AMP deaminase N-terminal
    4. NM_001282228.2NP_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/Swiss-Prot
      Q9NZK5
      UniProtKB/TrEMBL
      B4E3Q4
      Related
      ENSP00000497469.1, ENST00000649540.1
      Conserved Domains (3) summary
      cd01321
      Location:40459
      ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.
      TIGR01431
      Location:1467
      adm_rel; adenosine deaminase-related growth factor
      pfam08451
      Location:160
      A_deaminase_N; Adenosine/AMP deaminase N-terminal
    5. NM_001282229.2NP_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/Swiss-Prot
      Q9NZK5
      UniProtKB/TrEMBL
      A0A087X0I3
      Related
      ENSP00000483418.1, ENST00000610390.4
      Conserved Domains (1) summary
      cd01321
      Location:81381
      ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.
    6. NM_177405.3NP_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/Swiss-Prot
      Q9NZK5
      UniProtKB/TrEMBL
      B4E3Q4
      Related
      ENSP00000332871.4, ENST00000330232.8
      Conserved Domains (1) summary
      cl00281
      Location:7260
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      17178790..17221854 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_011544435.1

      UniProtKB/Swiss-Prot
      Q9NZK5
      Related
      ENSP00000382733.1, ENST00000399839.5
      Conserved Domains (3) summary
      cd01321
      Location:82501
      ADGF; Adenosine deaminase-related growth factors (ADGF), a novel family of secreted growth-factors with sequence similarty to adenosine deaminase.
      TIGR01431
      Location:30509
      adm_rel; adenosine deaminase-related growth factor
      pfam08451
      Location:12102
      A_deaminase_N; Adenosine/AMP deaminase N-terminal
    2. XM_006724080.3XP_006724143.1  adenosine deaminase 2 isoform X2

      Conserved Domains (1) summary
      cl00281
      Location:65273
      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 ...

    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.
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