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    ADAT2 adenosine deaminase tRNA specific 2 [ Homo sapiens (human) ]

    Gene ID: 134637, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ADAT2provided by HGNC
    Official Full Name
    adenosine deaminase tRNA specific 2provided by HGNC
    Primary source
    HGNC:HGNC:21172
    See related
    Ensembl:ENSG00000189007 MIM:615388; AllianceGenome:HGNC:21172
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TAD2; DEADC1; dJ20N2; dJ20N2.1
    Summary
    Predicted to enable tRNA-specific adenosine-34 deaminase activity. Predicted to be involved in tRNA wobble adenosine to inosine editing. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in skin (RPKM 2.8), lymph node (RPKM 2.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6q24.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (143422832..143450695, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (144615238..144643105, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (143743969..143771832, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene androgen induced 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25197 Neighboring gene uncharacterized LOC107986656 Neighboring gene PARL pseudogene 2 Neighboring gene C4orf46 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25198 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:143770838-143771820 Neighboring gene tubulin beta 8 class VIII pseudogene 2 Neighboring gene RNA, 5S ribosomal pseudogene 221 Neighboring gene peroxisomal biogenesis factor 3 Neighboring gene uncharacterized LOC124901417 Neighboring gene voltage dependent anion channel 1 pseudogene 8 Neighboring gene alpha-L-fucosidase 2

    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
    • 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. Detection of a Subset of Posttranscriptional Transfer RNA Modifications in Vivo with a Restriction Fragment Length Polymorphism-Based Method. Wulff TF, et al. Biochemistry, 2017 Aug 8. PMID 28703578
    2. Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder. Ramos J, et al. RNA, 2020 Nov. PMID 32763916, Free PMC Article
    3. RNA editing by adenosine deaminases generates RNA and protein diversity. Schaub M, et al. Biochimie, 2002 Aug. PMID 12457566
    4. Functional characterization of ATAD2 as a new cancer/testis factor and a predictor of poor prognosis in breast and lung cancers. Caron C, et al. Oncogene, 2010 Sep 16. PMID 20581866
    5. Uncovering the Translational Regulatory Activity of the Tumor Suppressor BRCA1. Berthel E, et al. Cells, 2020 Apr 10. PMID 32290274, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
      Title: Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
    2. Transfer RNAs (tRNAs) are among the most heavily modified RNA species. Data confirm that ADAT2 exhibits substrate specificity that includes tRNA(Ala-AGC) and tRNA(Thr-AGU), deaminating adenosine-34 to inosine-34 as post-transcriptional modifications.
      Title: Detection of a Subset of Posttranscriptional Transfer RNA Modifications in Vivo with a Restriction Fragment Length Polymorphism-Based Method.
    3. data indicate that ATAD2 overexpression in somatic cells, by acting on basic properties of chromatin, may contribute to malignant transformation
      Title: Functional characterization of ATAD2 as a new cancer/testis factor and a predictor of poor prognosis in breast and lung cancers.
    Submit: New GeneRIF Correction

    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

    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

    Clone Names

    • FLJ44213, DKFZp686L1118

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tRNA-specific adenosine-34 deaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in tRNA wobble adenosine to inosine editing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    tRNA-specific adenosine deaminase 2
    Names
    adenosine deaminase, tRNA-specific 2, TAD2 homolog
    deaminase domain containing 1
    deaminase domain-containing protein 1
    tRNA-specific adenosine deaminase 2 homolog
    tRNA-specific adenosine-34 deaminase subunit ADAT2
    NP_001273188.1
    NP_872309.2
    XP_011533741.1
    XP_011533745.1
    XP_016865749.1
    XP_016865752.1
    XP_024302097.1
    XP_047274145.1
    XP_054210220.1
    XP_054210221.1
    XP_054210222.1
    XP_054210223.1
    XP_054210224.1
    XP_054210225.1

    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.

    mRNA and Protein(s)

    1. NM_001286259.2 → NP_001273188.1  tRNA-specific adenosine deaminase 2 isoform b

      See identical proteins and their annotated locations for NP_001273188.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AK126201, AL031320, BM680217
      Consensus CDS
      CCDS69219.1
      UniProtKB/Swiss-Prot
      Q7Z6V5
      Related
      ENSP00000475651.1, ENST00000606514.5
      Conserved Domains (1) summary
      COG0590
      Location:4 → 126
      TadA; tRNA(Arg) A34 adenosine deaminase TadA [Translation, ribosomal structure and biogenesis]

    2. NM_182503.3 → NP_872309.2  tRNA-specific adenosine deaminase 2 isoform a

      See identical proteins and their annotated locations for NP_872309.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).
      Source sequence(s)
      AL031320, BC037955, BM680217, DA100320
      Consensus CDS
      CCDS43511.1
      UniProtKB/Swiss-Prot
      A6NL12, B3KWY3, Q7Z327, Q7Z6V5, Q8IY39
      Related
      ENSP00000237283.8, ENST00000237283.9
      Conserved Domains (1) summary
      COG0590
      Location:16 → 173
      TadA; tRNA(Arg) A34 adenosine deaminase TadA [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      143422832..143450695 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418189.1 → XP_047274145.1  tRNA-specific adenosine deaminase 2 isoform X2

    2. XM_011535439.3 → XP_011533741.1  tRNA-specific adenosine deaminase 2 isoform X1

      Conserved Domains (1) summary
      COG0590
      Location:72 → 212
      TadA; tRNA(Arg) A34 adenosine deaminase TadA [Translation, ribosomal structure and biogenesis]

    3. XM_017010260.3 → XP_016865749.1  tRNA-specific adenosine deaminase 2 isoform X2

      UniProtKB/Swiss-Prot
      Q7Z6V5
      Conserved Domains (1) summary
      COG0590
      Location:4 → 126
      TadA; tRNA(Arg) A34 adenosine deaminase TadA [Translation, ribosomal structure and biogenesis]

    4. XM_024446329.2 → XP_024302097.1  tRNA-specific adenosine deaminase 2 isoform X2

      Conserved Domains (1) summary
      COG0590
      Location:4 → 126
      TadA; tRNA(Arg) A34 adenosine deaminase TadA [Translation, ribosomal structure and biogenesis]

    5. XM_017010263.2 → XP_016865752.1  tRNA-specific adenosine deaminase 2 isoform X3

    6. XM_011535443.2 → XP_011533745.1  tRNA-specific adenosine deaminase 2 isoform X4

      Conserved Domains (1) summary
      cl00269
      Location:72 → 106
      cytidine_deaminase-like; Cytidine and deoxycytidylate deaminase zinc-binding region. The family contains cytidine deaminases, nucleoside deaminases, deoxycytidylate deaminases and riboflavin deaminases. Also included are the apoBec family of mRNA editing enzymes. All members ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      144615238..144643105 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354248.1 → XP_054210223.1  tRNA-specific adenosine deaminase 2 isoform X2

    2. XM_054354245.1 → XP_054210220.1  tRNA-specific adenosine deaminase 2 isoform X1

    3. XM_054354246.1 → XP_054210221.1  tRNA-specific adenosine deaminase 2 isoform X2

    4. XM_054354247.1 → XP_054210222.1  tRNA-specific adenosine deaminase 2 isoform X2

    5. XM_054354249.1 → XP_054210224.1  tRNA-specific adenosine deaminase 2 isoform X3

    6. XM_054354250.1 → XP_054210225.1  tRNA-specific adenosine deaminase 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z6V5.1 GenPept UniProtKB/Swiss-Prot:Q7Z6V5

    Gene LinkOut

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