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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
Location & Maps
more
  • Sequence Map
    Chr3:116513070-116549981 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36912 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 50.37 cM
  • Mapping Data
    2 experiments
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
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  • 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
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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 OTTMUSG00000027084 VEGA Gene Model | MGI Sequence Detail 36912 C57BL/6J ±  kb
    transcript OTTMUST00000066974 VEGA | MGI Sequence Detail 3301 Not Applicable  
    polypeptide OTTMUSP00000033637 VEGA | MGI Sequence Detail 482 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      339 from dbSNP Build 142
    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 7
      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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

    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
    10/09/2018
    MGI 6.12
    The Jackson Laboratory