ADAT2

Chr 6

adenosine deaminase tRNA specific 2

Also known as: DEADC1, TAD2, dJ20N2, dJ20N2.1

NCBI Gene: 134637ENSG00000189007UniProt: Q7Z6V5OMIM: 615388

The ADAT2 protein serves as the catalytic subunit of a tRNA-editing complex that deaminates adenosine to inosine at the wobble position of tRNA anticodons, enabling more flexible protein translation. Mutations cause autosomal recessive intellectual disability with microcephaly and cortical malformations due to defective neuronal migration during brain development. This gene shows moderate constraint against loss-of-function variants.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.57
Clinical Summary— ADAT2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
14 unique Pathogenic / Likely Pathogenic· 31 VUS of 53 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.57LOEUF
pLI 0.000
Z-score 0.13
OE 0.96 (0.60–1.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.88Z-score
OE missense 0.77 (0.64–0.92)
87 obs / 113.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.96 (0.60–1.57)
0≤0.351.4
Missense OE0.77 (0.64–0.92)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 11 / 11.5Missense obs/exp: 87 / 113.4Syn Z: 0.29
DN
0.6452th %ile
GOF
0.5954th %ile
LOF
0.3843th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

53 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
VUS31
14
Pathogenic
31
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
0
0
0
VUS
0
26
5
0
31
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total02619045

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ADAT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients