Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 113179
MIM: 615302
HGNC: 25151
Ensembl: ENSG00000213638
Variants:
dbSNP: 113179
ClinVar: 113179
TCGA: ENSG00000213638
COSMIC: ADAT3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000213638 | ENST00000329478 | D6W601 |
| ENSG00000213638 | ENST00000454697 | C9JFC1 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Gene Expression | REACTOME | R-HSA-74160 |
| tRNA processing | REACTOME | R-HSA-72306 |
| tRNA modification in the nucleus and cytosol | REACTOME | R-HSA-6782315 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35118659 | 2022 | Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing. | 1 |
| 35118659 | 2022 | Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing. | 1 |
| 32763916 | 2020 | Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder. | 8 |
| 32763916 | 2020 | Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder. | 8 |
| 30296593 | 2019 | A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome. | 13 |
| 31263000 | 2019 | Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability. | 18 |
| 30296593 | 2019 | A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome. | 13 |
| 31263000 | 2019 | Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability. | 18 |
| 26842963 | 2016 | ADAT3-related intellectual disability: Further delineation of the phenotype. | 24 |
| 26842963 | 2016 | ADAT3-related intellectual disability: Further delineation of the phenotype. | 24 |
| 23620220 | 2013 | Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. | 57 |
| 23620220 | 2013 | Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. | 57 |
Citation
Dessen P
ADAT3 (adenosine deaminase tRNA specific 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60153/adat3-(adenosine-deaminase-trna-specific-3)
