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

Gene ID: 134637, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in skin (RPKM 2.8), lymph node (RPKM 2.6) and 25 other tissues See more
Orthologs
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Genomic context

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See ADAT2 in Genome Data Viewer
Location:
6q24.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (143422832..143450695, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (144615238..144643105, complement)
RS_2024_09 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 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 (22) 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_2024_08

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

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