About   Help   FAQ
Kbtbd2 Gene Detail
Summary
  • Symbol
    Kbtbd2
  • Name
    kelch repeat and BTB (POZ) domain containing 2
  • Synonyms
    Bklhd1, MGC:36672, mKIAA1489
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384811
    NCBI Gene: 210973
  • Alliance
    genome feature page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:56754510-56774798 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 27.73 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    470 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384811
 protein coding gene Chr6:56754509-56774798 (-)
129S1/SvImJ ENSMUSG00200005743
 protein coding gene Chr6:53717115-53737430 (-)
A/J ENSMUSG00195032997
 protein coding gene Chr6:53466121-53486410 (-)
AKR/J ENSMUSG00220005789
 protein coding gene Chr6:53158496-53178787 (-)
BALB/cJ ENSMUSG00180009036
 protein coding gene Chr6:53755887-53776177 (-)
C3H/HeJ ENSMUSG00175034329
 protein coding gene Chr6:53523951-53544241 (-)
C57BL/6NJ ENSMUSG00215023825
 protein coding gene Chr6:53740722-53761011 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028423
 protein coding gene Chr6:51194057-51216875 (-)
CAST/EiJ ENSTCUG00005039888
 protein coding gene Chr6:52970856-52991107 (-)
CBA/J ENSMUSG00210031596
 protein coding gene Chr6:53561246-53581536 (-)
DBA/2J ENSMUSG00185018134
 protein coding gene Chr6:54140908-54161197 (-)
FVB/NJ ENSMUSG00205021613
 protein coding gene Chr6:53733553-53753842 (-)
JF1/MsJ ENSUMUG00000023790
 protein coding gene Chr6:53515721-53536020 (-)
LP/J ENSMUSG00230011876
 protein coding gene Chr6:55214029-55234343 (-)
NOD/ShiLtJ ENSMUSG00190008350
 protein coding gene Chr6:53474079-53494368 (-)
NZO/HlLtJ ENSMUSG00225013499
 protein coding gene Chr6:57205889-57226201 (-)
PWK/PhJ ENSLUMG00010017855
 protein coding gene Chr6:53273458-53293968 (-)
SPRET/EiJ ENSMSPG00010008438
 protein coding gene Chr6:53943730-53955916 (-)
WSB/EiJ ENSIUOG00005019615
 protein coding gene Chr6:53828948-53849202 (-)



Homology
more
  • Human Ortholog
    KBTBD2, kelch repeat and BTB domain containing 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KBTBD2, kelch repeat and BTB domain containing 2
  • Synonyms
    BKLHD1
  • Links
    NCBI Gene ID: 25948
    UniProt: Q8IY47

  • Chr Location
    7p14.3; chr7:32868166-32894131 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 3 alleles in 3 genetic backgrounds
    5 phenotypes from multigenic genotypes
    18 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.
Mice homozygous for a knock-out allele or mutation exhibit diabetes, lipodystrophy, and hepatic steatosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    5
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
    597
  • cDNA Data
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 210973 NCBI Gene Model | MGI Sequence Detail 20289 C57BL/6J ±  kb
    transcript NM_001362209 RefSeq | MGI Sequence Detail 4168 C57BL/6  
    polypeptide G3X9X1 UniProt | EBI | MGI Sequence Detail 623 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 4
      cDNA 4

      Microarray probesets 3
    References
    more
    • Summaries
      All 41
      Gene Ontology 5
      Phenotypes 18
    • Earliest
      J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
    • Latest
      J:376169 Xun Y, et al., KBTBD2 controls bone development by regulating IGF-1 signaling during osteoblast differentiation. Cell Death Differ. 2025 Jun;32(6):1099-1111
    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