Identity
HGNC
LOCATION
1p21.2
LOCUSID
ALIAS
BCATE2,BCKAD-E2,BCKADE2,BCKDH-E2,BCOADC-E2,E2,E2B
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: 1629
MIM: 248610
HGNC: 2698
Ensembl: ENSG00000137992
Variants:
dbSNP: 1629
ClinVar: 1629
TCGA: ENSG00000137992
COSMIC: DBT
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000137992 | ENST00000370131 | Q5VVL7 |
| ENSG00000137992 | ENST00000370132 | P11182 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37383233 | 2023 | Overexpression of DBT suppresses the aggressiveness of renal clear cell carcinoma and correlates with immune infiltration. | 2 |
| 37383233 | 2023 | Overexpression of DBT suppresses the aggressiveness of renal clear cell carcinoma and correlates with immune infiltration. | 2 |
| 34883003 | 2022 | Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease. | 0 |
| 35657820 | 2022 | Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier. | 0 |
| 34883003 | 2022 | Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease. | 0 |
| 35657820 | 2022 | Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier. | 0 |
| 24268812 | 2014 | Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan. | 1 |
| 24268812 | 2014 | Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan. | 1 |
| 23313820 | 2013 | Molecular characterization of maple syrup urine disease patients from Tunisia. | 4 |
| 23313820 | 2013 | Molecular characterization of maple syrup urine disease patients from Tunisia. | 4 |
| 20570198 | 2010 | Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation. | 4 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20570198 | 2010 | Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation. | 4 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 19480318 | 2009 | Molecular genetics of maple syrup urine disease in the Turkish population. | 3 |
Citation
Dessen P
DBT (dihydrolipoamide branched chain transacylase E2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62308/dbt-(dihydrolipoamide-branched-chain-transacylase-e2)
