Gene Gene information from NCBI Gene database.
Entrez ID 1629
Gene name Dihydrolipoamide branched chain transacylase E2
Gene symbol DBT
Synonyms (NCBI Gene)
BCATE2BCKAD-E2BCKADE2BCKDH-E2BCOADC-E2E2E2B
Chromosome 1
Chromosome location 1p21.2
Summary 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.
48
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.
1648
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22291014, 28514442, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
248610 2698 ENSG00000137992
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
DBT-related disorder Likely pathogenic; Pathogenic rs727503895, rs796052135, rs2524106517 RCV003407575
RCV003415688
RCV003391364
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maple syrup urine disease Likely pathogenic; Pathogenic rs1557943881, rs1663522846, rs755914063, rs2100779270, rs2100797119, rs2100827350, rs753574354, rs2100779875, rs2100797134, rs1310427311, rs2100844690, rs1557956678, rs1553232188, rs1276927916, rs2100834784
View all (98 more)
RCV001379050
RCV001377757
RCV001379105
RCV001390159
RCV001384866
View all (115 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple syrup urine disease type 1A Pathogenic; Likely pathogenic rs755914063, rs2100761028, rs727503895, rs794727262, rs121964999, rs796052135, rs768832921, rs2524164751, rs2524147113, rs2524153852, rs2524146862, rs201559874, rs1217050849, rs1553229654, rs1553229661
View all (19 more)
RCV005630275
RCV005630964
RCV004567173
RCV005430258
RCV004566722
View all (29 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maple syrup urine disease type 2 Pathogenic; Likely pathogenic rs753574354, rs2100779875, rs2100797134, rs2100844690, rs750594890, rs769600540, rs121964999, rs796052134, rs796052135, rs121965000, rs121965001, rs768832921, rs121965002, rs121965003, rs2524164751
View all (18 more)
RCV005006064
RCV005635214
RCV001840964
RCV005016774
RCV005050453
View all (28 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 27404287 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Chronic Hepatitis Autoimmune hepatitis LHGDN 14768949
★☆☆☆☆
Found in Text Mining only
Autonomic Nervous System Diseases Autonomic nervous system disease Pubtator 20077949 Associate
★☆☆☆☆
Found in Text Mining only
Biliary cirrhosis Biliary cirrhosis LHGDN 14768949
★☆☆☆☆
Found in Text Mining only
Borderline Personality Disorder Borderline personality disorder BEFREE 30036173, 30179577
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29230524, 30292265
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36860124 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 37383233 Inhibit
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 30541556 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Familial Idiopathic Cardiomyopathy BEFREE 10102567, 9873825
★☆☆☆☆
Found in Text Mining only