About   Help   FAQ
Dbt Gene Detail
Summary
  • Symbol
    Dbt
  • Name
    dihydrolipoamide branched chain transacylase E2
  • Synonyms
    BCKAD E2, D3Wsu60e, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, dihydrolipoyl transacylase
  • Feature Type
    protein coding gene
  • IDs
    MGI:105386
    NCBI Gene: 13171
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:116306776-116343630 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 50.37 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1346 from dbSNP Build 142
  • Strain Annotations
    25
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105386
 protein coding gene Chr3:116306719-116343630 (+)
129S1/SvImJ ENSMUSGG00200054766
 protein coding gene Chr3:112964516-112984665 (+)
129S1/SvImJ ENSMUSG00200025232
 protein coding gene Chr3:112985970-112990385 (+)
A/J ENSMUSGG00195055254
 protein coding gene Chr3:113213854-113234179 (+)
A/J ENSMUSG00195013950
 protein coding gene Chr3:113235488-113239902 (+)
AKR/J ENSMUSGG00220054552
 protein coding gene Chr3:111621169-111641490 (+)
AKR/J ENSMUSG00220024546
 protein coding gene Chr3:111642799-111647212 (+)
BALB/cJ ENSMUSG00180028520
 protein coding gene Chr3:113180227-113184640 (+)
BALB/cJ ENSMUSGG00180055394
 protein coding gene Chr3:113158590-113178917 (+)
C3H/HeJ ENSMUSG00175024369
 protein coding gene Chr3:112720764-112725177 (+)
C3H/HeJ ENSMUSGG00175054914
 protein coding gene Chr3:112699126-112719452 (+)
C57BL/6NJ ENSMUSGG00215055560
 protein coding gene Chr3:113432088-113452397 (+)
C57BL/6NJ ENSMUSG00215005266
 protein coding gene Chr3:113453706-113458118 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025566
 protein coding gene Chr3:110231858-110275880 (+)
CAST/EiJ no annotation
CBA/J ENSMUSG00210002649
 protein coding gene Chr3:113329461-113333872 (+)
CBA/J ENSMUSGG00210054970
 protein coding gene Chr3:113307828-113328152 (+)
DBA/2J ENSMUSGG00185057618
 protein coding gene Chr3:113897844-113918166 (+)
DBA/2J ENSMUSG00185007227
 protein coding gene Chr3:113919475-113923888 (+)
FVB/NJ ENSMUSG00205016524
 protein coding gene Chr3:112268444-112272857 (+)
FVB/NJ ENSMUSGG00205054263
 protein coding gene Chr3:112246813-112267133 (+)
JF1/MsJ no annotation
LP/J ENSMUSG00230009503
 protein coding gene Chr3:115846816-115851231 (+)
LP/J ENSMUSGG00230055691
 protein coding gene Chr3:115825361-115845511 (+)
NOD/ShiLtJ ENSMUSG00190030274
 protein coding gene Chr3:114283341-114287762 (+)
NZO/HlLtJ ENSMUSG00225003143
 protein coding gene Chr3:118341878-118346291 (+)
NZO/HlLtJ ENSMUSGG00225055486
 protein coding gene Chr3:118320244-118340565 (+)
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    DBT, dihydrolipoamide branched chain transacylase E2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DBT, dihydrolipoamide branched chain transacylase E2
  • Synonyms
    BCATE2, BCKAD-E2, BCKADE2, BCKDH-E2, BCOADC-E2, E2, E2B
  • Links
    NCBI Gene ID: 1629
    UniProt: P11182

  • Chr Location
    1p21.2; chr1:100182222-100249873 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Dbt mouse models; 1 with human DBT associations

Human Disease Mouse Models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in postnatal lethality, pallor, respiratory distress, and an increase in branched-chain amino acids in the blood and urine. Homozygotes model Maple Syrup Urine Disease.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    714
  • Tissues
    110
  • cDNA Data
    84
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13171 NCBI Gene Model | MGI Sequence Detail 36855 C57BL/6J ±  kb
    transcript NM_010022 RefSeq | MGI Sequence Detail 3244 ZRU/MplStud  
    polypeptide P53395 UniProt | EBI | MGI Sequence Detail 482 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000006300 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
      (term hierarchy)
    • EC
      2.3.1.-, 2.3.1.168
    • InterPro Domains
      IPR001078 2-oxoacid dehydrogenase acyltransferase, catalytic domain
      IPR050743 2-oxoacid dehydrogenase family, E2 component
      IPR003016 2-oxo acid dehydrogenase, lipoyl-binding site
      IPR000089 Biotin/lipoyl attachment
      IPR023213 Chloramphenicol acetyltransferase-like domain superfamily
      IPR036625 E3-binding domain superfamily
      IPR004167 Peripheral subunit-binding domain
      IPR011053 Single hybrid motif
    • GlyGen
      P53395 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 86
      cDNA 84
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-33056, MGD-MRK-34214, MGI:106520
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 5
      Diseases 2
      Gene Ontology 13
      Phenotypes 17
    • Earliest
      J:31317 Costeas PA, et al., Molecular cloning of the murine branched chain alpha-ketoacid dehydrogenase E2 subunit: presence of 3' B1 repeat elements. Biochim Biophys Acta. 1996 Feb 7;1305(1-2):25-8
    • Latest
      J:373463 Lavery S, et al., Functional connectivity changes in mouse models of maple syrup urine disease. Cereb Cortex. 2025 Feb 5;35(2)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory