Identity
HGNC
LOCATION
11q22.3
LOCUSID
ALIAS
ABH8,MRT71,TRM9,TRMT9,TRMT9A
FUSION GENES
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: 91801
MIM: 613306
HGNC: 25189
Ensembl: ENSG00000137760
Variants:
dbSNP: 91801
ClinVar: 91801
TCGA: ENSG00000137760
COSMIC: ALKBH8
RNA/Proteins
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 |
|---|---|---|---|
| 38189198 | 2024 | The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders. | 0 |
| 38189198 | 2024 | The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders. | 0 |
| 34757492 | 2022 | Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant. | 6 |
| 36192131 | 2022 | HITS-CLIP analysis of human ALKBH8 reveals interactions with fully processed substrate tRNAs and with specific noncoding RNAs. | 2 |
| 34757492 | 2022 | Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant. | 6 |
| 36192131 | 2022 | HITS-CLIP analysis of human ALKBH8 reveals interactions with fully processed substrate tRNAs and with specific noncoding RNAs. | 2 |
| 33544954 | 2021 | Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. | 10 |
| 33544954 | 2021 | Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. | 10 |
| 31765888 | 2020 | Loss of epitranscriptomic control of selenocysteine utilization engages senescence and mitochondrial reprogramming(☆). | 19 |
| 31765888 | 2020 | Loss of epitranscriptomic control of selenocysteine utilization engages senescence and mitochondrial reprogramming(☆). | 19 |
| 31079898 | 2019 | Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification. | 20 |
| 31079898 | 2019 | Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification. | 20 |
| 27329810 | 2016 | ALKBH8 promotes bladder cancer growth and progression through regulating the expression of survivin. | 16 |
| 27329810 | 2016 | ALKBH8 promotes bladder cancer growth and progression through regulating the expression of survivin. | 16 |
| 21285950 | 2011 | ALKBH8-mediated formation of a novel diastereomeric pair of wobble nucleosides in mammalian tRNA. | 81 |
Citation
Dessen P
ALKBH8 (alkB homolog 8, tRNA methyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2006-05-01
Online version: http://atlasgeneticsoncology.org/gene/43082/alkbh8
