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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
905
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DBT-related disorder Likely pathogenic; Pathogenic rs727503895, rs796052135, rs2524106517 RCV003407575
RCV003415688
RCV003391364
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
RCV001381704
RCV001806780
RCV001807947
RCV002543269
RCV001843390
RCV001922374
RCV002010688
RCV002005492
RCV001874647
RCV001900959
RCV001919733
RCV002002443
RCV002035265
RCV002037725
RCV001866468
RCV001999539
RCV002007536
RCV002011455
RCV001989113
RCV001946642
RCV001911936
RCV001972787
RCV001949426
RCV001918341
RCV001984660
RCV001377734
RCV002309682
RCV002309909
RCV002309974
RCV002309061
RCV002309448
RCV002306913
RCV002306975
RCV002307195
RCV002307223
RCV002310271
RCV002308454
RCV003087431
RCV000175709
RCV002664176
RCV002618811
RCV002802089
RCV002816365
RCV002928850
RCV002996120
RCV003022380
RCV003047031
RCV003047037
RCV000209922
RCV000179835
RCV000668558
RCV000626239
RCV003317816
RCV003466102
RCV003466103
RCV003466104
RCV003466105
RCV003466106
RCV003466107
RCV003466110
RCV003466111
RCV003466112
RCV003466113
RCV003466114
RCV003523730
RCV003524636
RCV003524641
RCV003522766
RCV003522615
RCV003522896
RCV003637243
RCV003637627
RCV003637726
RCV003638017
RCV003636702
RCV003636763
RCV003869398
RCV005064936
RCV000409585
RCV000631895
RCV000631890
RCV000666706
RCV000671028
RCV000673281
RCV000669588
RCV000667766
RCV000666893
RCV000672644
RCV000665137
RCV000673717
RCV000761468
RCV004798867
RCV000814694
RCV000986388
RCV000986389
RCV001046944
RCV001223966
RCV001255378
RCV001255379
RCV001255380
RCV001264214
RCV001263639
RCV001263640
RCV001263641
RCV001263642
RCV001263643
RCV001263644
RCV001263645
RCV000174059
RCV003635902
RCV001377582
RCV000179397
RCV002514405
RCV000179836
RCV000179839
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
RCV004566723
RCV004566724
RCV004574032
RCV004575762
RCV004575763
RCV004575764
RCV004567878
RCV004568375
RCV005430445
RCV005430688
RCV005430762
RCV005430759
RCV005430630
RCV005430775
RCV005430575
RCV005430426
RCV005430714
RCV005430451
RCV005430644
RCV005430738
RCV004568490
RCV004568559
RCV004577341
RCV004570647
RCV004570653
RCV005430117
RCV004566954
RCV004566955
RCV005430119
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
RCV005002948
RCV003581558
RCV000012723
RCV003581560
RCV003581561
RCV003581562
RCV000012728
RCV003581564
RCV000012731
RCV003989846
RCV005014846
RCV003988751
RCV003990261
RCV003990960
RCV004527510
RCV004576125
RCV004576126
RCV005015191
RCV005632595
RCV004792358
RCV000790386
RCV005003455
RCV004760370
RCV005016361
RCV002298465
RCV004527311
RCV005003456
RCV001250158
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs183058253 RCV005886347
Cervical cancer Benign; Likely benign rs10783125, rs183058253, rs140115881 RCV005891446
RCV005886350
RCV005886363
Cholangiocarcinoma Benign; Likely benign rs140115881 RCV005886368
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs183058253 RCV005886359
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 27404287
Autonomic Nervous System Diseases Associate 20077949
Carcinoma Renal Cell Associate 36860124
Carcinoma Renal Cell Inhibit 37383233
Cardiomyopathy Dilated Associate 30541556
Depressive Disorder Major Associate 40149491
Diabetes Mellitus Associate 37773841
Dysautonomia Familial Associate 20077949
Feeding and Eating Disorders Associate 31830945
Fuchs' Endothelial Dystrophy Associate 20825314, 23185296