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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ADAT2
adenosine deaminase tRNA specific 2
Chromosome 6 · 6q24.2
NCBI Gene: 134637Ensembl: ENSG00000189007.17HGNC: HGNC:21172UniProt: Q7Z6V5
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtRNA wobble adenosine to inosine editingtRNA-specific adenosine-34 deaminase activitynucleoplasmneurodegenerative diseaseAbnormality of the skeletal systemaortic atherosclerosisPancreatic pseudocyst
✦AI Summary

ADAT2 is the catalytic subunit of the heterodimeric ADAT2/ADAT3 tRNA deaminase complex that catalyzes adenosine-to-inosine (A-to-I) conversion at position 34 (wobble position) of the anticodon in eukaryotic tRNAs 1. This modification expands codon recognition capacity, allowing inosine to pair with uracil, cytosine, and adenine at the third mRNA codon position 2. The ADAT3 regulatory subunit positions the tRNA anticodon stem-loop in the ADAT2 active site through conformational rotation of its N-terminus 3. Proper ADAT2/ADAT3 catalytic activity is essential for radial migration of projection neurons during cortical development; variants impairing complex function cause severe neurodevelopmental disorders characterized by intellectual disability 234. Beyond neurodevelopment, ADAT2/3 genes are commonly amplified and overexpressed in multiple tumor types including liposarcoma, where the complex promotes cancer cell growth by facilitating translation of codon-biased mRNAs enriched in codons dependent on A-I tRNA editing 5. Additionally, ADAT2 expression correlates with breast cancer prognosis 6. These findings establish ADAT2 as critical for both normal neural development and cellular processes dysregulated in cancer.

Sources cited
1
ADAT2/ADAT3 complex catalyzes wobble A-to-I modification; ADAT3 variants cause neurodevelopmental disorders; proper catalytic activity is essential for cortical neuronal migration
PMID: 40120092
2
ADAT2/3 genes are commonly amplified/overexpressed in tumors including liposarcoma; complex promotes cancer cell growth and translation of codon-biased mRNAs dependent on A-I editing
PMID: 40907939
3
ADAT2/ADAT3 heterodimer catalyzes wobble inosine formation; ADAT3 V144M mutation causes autosomal recessive intellectual disability; proper complex assembly is crucial for neurodevelopment
PMID: 31263000
4
ADAT2 expression levels correlate with breast cancer prognosis
PMID: 38783078
5
ADAT2/3 complex catalyzes wobble inosine modification required for wobble decoding; ADAT3 variants impair deaminase activity and cause intellectual disability; ADAT2 overexpression can rescue activity
PMID: 32763916
6
ADAT2/ADAT3 heterodimeric enzyme is responsible for inosine modifications in eukaryotes; tRNA inosine modification is directly relevant to human disease
PMID: 40383699
7
ADAT2/3 catalyzes A-to-I conversion at tRNA wobble position; mutations in ADAT3 are associated with intellectual disability
PMID: 39034823
8
ADAT2 and ADAT3 function as heterodimer catalyzing inosine formation at wobble position 34 in eukaryotic tRNAs
PMID: 12457566
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.18Weak
Abnormality of the skeletal systemOpen Targets
0.15Weak
aortic atherosclerosisOpen Targets
0.14Weak
Pancreatic pseudocystOpen Targets
0.14Weak
Inguinal herniaOpen Targets
0.13Weak
peroxisome biogenesis disorder 1A (Zellweger)Open Targets
0.12Weak
systemic lupus erythematosusOpen Targets
0.12Weak
Hernia of the abdominal wallOpen Targets
0.11Weak
HerniaOpen Targets
0.11Weak
liver diseaseOpen Targets
0.10Weak
schizophreniaOpen Targets
0.09Suggestive
Griscelli diseaseOpen Targets
0.08Suggestive
ringed hair diseaseOpen Targets
0.08Suggestive
Griscelli disease type 3Open Targets
0.08Suggestive
Griscelli syndrome type 3Open Targets
0.08Suggestive
aortic aneurysmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
uncombable hair syndromeOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.07Suggestive
neuropathyOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADAT1Protein interaction93%ADAT3Protein interaction83%TYMSProtein interaction82%RPSAProtein interaction78%UPRTProtein interaction77%GTF2H1Protein interaction77%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
55%
Lung
46%
Ovary
36%
Heart
11%
Brain
9%
Gene Interaction Network
Click a node to explore
ADAT2ADAT1ADAT3TYMSRPSAUPRTGTF2H1
PROTEIN STRUCTURE
Preparing viewer…
PDB3DH1 · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.33LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.67–1.33]
RankingsWhere ADAT2 stands among ~20K protein-coding genes
  • #13,598of 20,598
    Most Researched22
  • #13,916of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedADAT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.
PMID: 40120092
Brain · 2025
1.00
2
The tRNA Editing Complex ADAT2/3 Promotes Cancer Cell Growth and Codon-biased mRNA Translation.
PMID: 40907939
J Mol Biol · 2025
0.90
3
Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability.
PMID: 31263000
Mol Cell Biol · 2019
0.80
4
ADAT2-mediated A-to-I tRNA modification promotes oncogenic translation and colorectal cancer progression and chemoresistance.
PMID: 41845367
Mol Cancer · 2026
0.70
5
Genome-wide identification and analysis of epithelial-mesenchymal transition-related RNA-binding proteins and alternative splicing in a human breast cancer cell line.
PMID: 38783078
Sci Rep · 2024
0.60