Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1629
Gene name Gene Name - the full gene name approved by the HGNC.
Dihydrolipoamide branched chain transacylase E2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DBT
Synonyms (NCBI Gene) Gene synonyms aliases
BCATE2, BCKAD-E2, BCKADE2, BCKDH-E2, BCOADC-E2, E2, E2B
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 2
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs12021720 T>A,C Pathogenic, benign Missense variant, genic downstream transcript variant, coding sequence variant
rs74103423 C>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs75525811 T>C Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, genic downstream transcript variant, coding sequence variant
rs121964999 A>C Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs121965000 C>A Pathogenic Genic downstream transcript variant, terminator codon variant, stop lost
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023019 hsa-miR-124-3p Microarray 18668037
MIRT024650 hsa-miR-215-5p Microarray 19074876
MIRT026763 hsa-miR-192-5p Microarray 19074876
MIRT043092 hsa-miR-324-5p CLASH 23622248
MIRT516276 hsa-miR-8485 HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA
GO:0005759 Component Mitochondrial matrix TAS
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
248610 2698 ENSG00000137992
Protein
UniProt ID P11182
Protein name Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial (EC 2.3.1.168) (52 kDa mitochondrial autoantigen of primary biliary cirrhosis) (Branched chain 2-oxo-acid dehydrogenase complex component E2) (BCOAD
Protein function The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoami
PDB 1K8M , 1K8O , 1ZWV , 2COO , 3RNM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00364 Biotin_lipoyl 65 138 Biotin-requiring enzyme Domain
PF02817 E3_binding 171 206 e3 binding domain Family
PF00198 2-oxoacid_dh 248 479 2-oxoacid dehydrogenases acyltransferase (catalytic domain) Domain
Sequence
Sequence length 482
Interactions View interactions