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Bckdk Gene Detail
Summary
  • Symbol
    Bckdk
  • Name
    branched chain ketoacid dehydrogenase kinase
  • Synonyms
    BCKD-kinase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1276121
    NCBI Gene: 12041
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:127503245-127508836 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 69.82 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    191 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1276121
 protein coding gene Chr7:127503245-127509393 (+)
129S1/SvImJ ENSMUSG00200022250
 protein coding gene Chr7:114016829-114022411 (+)
A/J ENSMUSG00195038207
 protein coding gene Chr7:118518601-118524179 (+)
AKR/J ENSMUSG00220015816
 protein coding gene Chr7:111965533-111971109 (+)
BALB/cJ ENSMUSG00180011910
 protein coding gene Chr7:115206377-115211954 (+)
C3H/HeJ ENSMUSG00175013161
 protein coding gene Chr7:115933254-115938830 (+)
C57BL/6NJ ENSMUSG00215008454
 protein coding gene Chr7:115213547-115219128 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030529
 protein coding gene Chr7:129937710-129944437 (+)
CAST/EiJ ENSTCUG00005044585
 protein coding gene Chr7:118458272-118463847 (+)
CBA/J ENSMUSG00210023012
 protein coding gene Chr7:115694573-115700154 (+)
DBA/2J ENSMUSG00185042495
 protein coding gene Chr7:120007407-120012988 (+)
FVB/NJ ENSMUSG00205021938
 protein coding gene Chr7:115650420-115656001 (+)
JF1/MsJ ENSUMUG00000010076
 protein coding gene Chr7:125052110-125057697 (+)
LP/J ENSMUSG00230052239
 protein coding gene Chr7:126116740-126122321 (+)
NOD/ShiLtJ ENSMUSG00190017219
 protein coding gene Chr7:115843632-115849220 (+)
NZO/HlLtJ ENSMUSG00225011389
 protein coding gene Chr7:124346515-124352091 (+)
PWK/PhJ ENSLUMG00010034022
 protein coding gene Chr7:114189031-114194624 (+)
SPRET/EiJ ENSMSPG00010011040
 protein coding gene Chr7:115453299-115460455 (+)
WSB/EiJ ENSIUOG00005025389
 protein coding gene Chr7:116544835-116550411 (+)



Homology
more
  • Human Ortholog
    BCKDK, branched chain keto acid dehydrogenase kinase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BCKDK, branched chain keto acid dehydrogenase kinase
  • Synonyms
    BCKDKD, BDK
  • Links
    NCBI Gene ID: 10295
    UniProt: O14874

  • Chr Location
    16p11.2; chr16:31106107-31117640 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Bckdk mouse models; 1 with human BCKDK associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 2 alleles in 3 genetic backgrounds
    26 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.
Nullizygous mutations lead to altered amino acid metabolism, gait anomalies and neurobehavioral phenotypes. Homozygotes for a gene trapped allele show impaired growth, reduced fertility and epileptic seizures. Homozygotes for another gene trapped allele show motor delay and autism-like behaviors.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    52
  • GO References
    14
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
    647
  • Tissues
    21
  • cDNA Data
    123
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12041 NCBI Gene Model | MGI Sequence Detail 5592 C57BL/6J ±  kb
    transcript NM_009739 RefSeq | MGI Sequence Detail 2857 C57BL/6  
    polypeptide O55028 UniProt | EBI | MGI Sequence Detail 412 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000004688 branched-chain alpha-ketoacid dehydrogenase kinase
      (term hierarchy)
    • EC
      2.7.11.-, 2.7.11.1, 2.7.11.4
    • InterPro Domains
      IPR036784 Alpha-ketoacid/pyruvate dehydrogenase kinase, N-terminal domain superfamily
      IPR018955 Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal
      IPR005467 Histidine kinase domain
      IPR003594 Histidine kinase/HSP90-like ATPase domain
      IPR036890 Histidine kinase/HSP90-like ATPase superfamily
      IPR039028 PDK/BCKDK protein kinase
      IPR004358 Signal transduction histidine kinase-related protein, C-terminal
    • GlyGen
      O55028 2 sites, 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 125
      cDNA 123
      Primer pair 2
      Antibodies 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2141925
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 14
      Phenotypes 26
    • Earliest
      J:48080 Doering CB, et al., Murine branched chain alpha-ketoacid dehydrogenase kinase; cDNA cloning, tissue distribution, and temporal expression during embryonic development. Gene. 1998 Jun 8;212(2):213-9
    • Latest
      J:390220 Liu Y, et al., BCKDK protects against obesity-induced cardiac remodelling and dysfunction by alleviating mitochondrial oxidative stress and ROS-driven MAPK signalling. Redox Biol. 2026 Jun 17;95:104265
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory