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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
  • Gene Overview
    MyGene.info: DBT
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:116513075-116549981 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 50.37 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    339 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105386
protein coding gene Chr3:116513070-116549981 (.)
129S1/SvImJ MGP_129S1SvImJ_G0027811
protein coding gene Chr3:118414642-118450512 (+)
A/J MGP_AJ_G0027769
protein coding gene Chr3:114538429-114577237 (+)
AKR/J MGP_AKRJ_G0027735
protein coding gene Chr3:117446716-117483269 (+)
BALB/cJ MGP_BALBcJ_G0027781
protein coding gene Chr3:114384271-114424798 (+)
C3H/HeJ MGP_C3HHeJ_G0027512
protein coding gene Chr3:117796777-117838219 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028227
protein coding gene Chr3:122756783-122801258 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025566
protein coding gene Chr3:110231858-110275880 (+)
CAST/EiJ MGP_CASTEiJ_G0026968
protein coding gene Chr3:117085881-117129302 (+)
CBA/J MGP_CBAJ_G0027487
protein coding gene Chr3:126957870-126999154 (+)
DBA/2J MGP_DBA2J_G0027628
protein coding gene Chr3:113775465-113812014 (+)
FVB/NJ MGP_FVBNJ_G0027596
protein coding gene Chr3:111413916-111451049 (+)
LP/J MGP_LPJ_G0027738
protein coding gene Chr3:119965310-120003460 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027626
protein coding gene Chr3:134329211-134379071 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028283
protein coding gene Chr3:116974102-117012849 (+)
PWK/PhJ MGP_PWKPhJ_G0026694
protein coding gene Chr3:113425628-113465976 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026516
protein coding gene Chr3:115001846-115037102 (+)
WSB/EiJ MGP_WSBEiJ_G0027048
protein coding gene Chr3:117666783-117703408 (+)



Homology
more
  • Human Ortholog
    DBT, dihydrolipoamide branched chain transacylase E2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DBT, dihydrolipoamide branched chain transacylase E2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BCATE2, BCKADE2, BCKAD-E2, BCOADC-E2, E2, E2B
  • Links
    NCBI Gene ID: 1629
    neXtProt AC: NX_P11182
    UniProt: P11182

  • Chr Location
    1p21.2; chr1:100186922-100249864 (-)  GRCh38.p7

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
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    10 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13171 NCBI Gene Model | MGI Sequence Detail 36907 C57BL/6J ±  kb
    transcript NM_010022 RefSeq | MGI Sequence Detail 3301 C57BL/6  
    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
    • EC
    • InterPro Domains
      IPR001078 2-oxoacid dehydrogenase acyltransferase, catalytic domain
      IPR003016 2-oxo acid dehydrogenase, lipoyl-binding site
      IPR000089 Biotin/lipoyl attachment
      IPR015761 Branched-chain alpha-ketoacid dehydrogenase complex component E2
      IPR023213 Chloramphenicol acetyltransferase-like domain superfamily
      IPR036625 E3-binding domain superfamily
      IPR004167 Peripheral subunit-binding domain
      IPR011053 Single hybrid motif
    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 43
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 8
      Phenotypes 10
    • 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:265628 Gaudet P, et al., Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief Bioinform. 2011 Sep;12(5):449-62

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory