ADAT2 Gene - Adenosine Deaminase tRNA Specific 2
Adenosine Deaminase tRNA Specific 2: Function, Expression, and Disease Relevance
Gene Information Card
| Symbol | ADAT2 |
|---|---|
| Full Name | Adenosine Deaminase tRNA Specific 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q24.2 |
| NCBI Gene ID | 134637 ncbi.nlm.nih.gov/gene/134637 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q7Z6Z6 |
| OMIM ID | 609210 |
| HGNC ID | 25697 |
| Aliases | TAD2, TAD2A, hTAD2, dJ20C7.3 |
Description
ADAT2 (Adenosine Deaminase tRNA Specific 2) encodes a catalytic subunit of the tRNA-specific adenosine deaminase complex. This enzyme catalyzes the deamination of adenosine to inosine at the wobble position (position 34) of tRNA molecules, a critical RNA editing event that expands codon-anticodon pairing and ensures accurate protein translation. ADAT2 forms a heterodimer with ADAT3 to mediate this editing. The gene is essential for proper translation and cellular function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with microcephaly and pontocerebellar hypoplasia (IDDMPH) | Biallelic loss-of-function mutations in ADAT2 impair tRNA editing, leading to defective translation and neurodevelopmental abnormalities. | ClinVar, OMIM |
| Autosomal recessive intellectual disability | Homozygous or compound heterozygous mutations disrupt ADAT2 function, affecting brain development. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| K562 | 7.8 | Leukemia cells |
| HeLa | 6.5 | Cervical cancer cells |
| HepG2 | 5.9 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.167G>A (p.Arg56Gln) | Missense | Rare | Impaired catalytic activity |
| c.334C>T (p.Arg112*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (e.g., nonsense, frameshift, start loss) cause ADAT2 deficiency, leading to impaired tRNA editing and neurodevelopmental disorders.
Gain of Function (GOF)
No gain-of-function mutations reported for ADAT2.
Dominant Negative (DN)
No dominant-negative mutations reported for ADAT2.
View complete mutation data：
Gene Ontology (GO)
| • tRNA-specific adenosine deaminase activity | • tRNA wobble position 34 deamination |
| • tRNA modification | • RNA editing |
| • cytosol | • nucleus |
Pathways
• tRNA modification in the nucleus and cytosol
• RNA editing: adenosine to inosine
Protein Summary
ADAT2 is a 229-amino acid protein that functions as the catalytic subunit of the tRNA adenosine deaminase complex. It contains a conserved deaminase domain and requires dimerization with ADAT3 for activity. The protein is localized in both the nucleus and cytoplasm, where it modifies tRNA at the wobble position to ensure translational fidelity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAT2 Knockout HEK293 Cell Line | EDJ-KQ51984 | Human | 134637 | Details Get a Quote |
| ADAT2 Knockout HeLa Cell Line | EDJ-KQ58342 | Human | 134637 | Details Get a Quote |
| ADAT2 Knockout A-549 Cell Line | EDJ-KQ66831 | Human | 134637 | Details Get a Quote |
| ADAT2 Knockout HCT 116 Cell Line | EDJ-KQ75234 | Human | 134637 | Details Get a Quote |
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