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ADA2 adenosine deaminase 2 [ Homo sapiens (human) ]

Gene ID: 51816, updated on 7-Dec-2018

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
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

Genomic context

See ADA2 in Genome Data Viewer
Location:
22q11.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (17178790..17221854, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17659681..17702744, 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
adenosine deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenosine deaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
adenosine deaminase activity TAS
Traceable Author Statement
more info
 
adenosine receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity NAS
Non-traceable Author Statement
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
proteoglycan binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
adenosine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenosine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
inosine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multicellular organism development NAS
Non-traceable Author Statement
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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, ENST00000399837.7
    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_001282226.1NP_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_001282227.1NP_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_001282228.1NP_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_001282229.1NP_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_177405.2NP_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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 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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