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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
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:56777524-56797813 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 27.73 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    145 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384811
protein coding gene Chr6:56777524-56798275 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030781
protein coding gene Chr6:56235777-56256079 (-)
A/J MGP_AJ_G0030750
protein coding gene Chr6:53631019-53651308 (-)
AKR/J MGP_AKRJ_G0030677
protein coding gene Chr6:55430477-55450760 (-)
BALB/cJ MGP_BALBcJ_G0030762
protein coding gene Chr6:54015525-54036153 (-)
C3H/HeJ MGP_C3HHeJ_G0030475
protein coding gene Chr6:55489005-55509870 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031217
protein coding gene Chr6:57509499-57529788 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028423
protein coding gene Chr6:51194057-51216875 (-)
CAST/EiJ MGP_CASTEiJ_G0029878
protein coding gene Chr6:55322545-55343629 (-)
CBA/J MGP_CBAJ_G0030449
protein coding gene Chr6:59878486-59898776 (-)
DBA/2J MGP_DBA2J_G0030599
protein coding gene Chr6:53518831-53539176 (-)
FVB/NJ MGP_FVBNJ_G0030551
protein coding gene Chr6:53108294-53128618 (-)
LP/J MGP_LPJ_G0030684
protein coding gene Chr6:56158144-56178458 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030585
protein coding gene Chr6:62316790-62338869 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031247
protein coding gene Chr6:55400004-55420261 (-)
PWK/PhJ MGP_PWKPhJ_G0029591
protein coding gene Chr6:53197787-53218486 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029425
protein coding gene Chr6:54812625-54832941 (-)
WSB/EiJ MGP_WSBEiJ_G0029955
protein coding gene Chr6:55464629-55485153 (-)



Homology
more
  • Human Ortholog
    KBTBD2, kelch repeat and BTB domain containing 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KBTBD2, kelch repeat and BTB domain containing 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BKLHD1
  • Links
    NCBI Gene ID: 25948
    neXtProt AC: NX_Q8IY47
    UniProt: Q8IY47

  • Chr Location
    7p14.3; chr7:32868166-32892144 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    22 phenotypes from 3 alleles in 3 genetic backgrounds
    5 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.
Mice homozygous for a knock-out allele or mutation exhibit diabetes, lipodystrophy, and hepatic steatosis.
Gene Ontology
(GO)
Classifications
less
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000059486 Ensembl Gene Model | MGI Sequence Detail 20290 C57BL/6J ±  kb
transcript ENSMUST00000114323 Ensembl | MGI Sequence Detail 3816 Not Applicable  
polypeptide ENSMUSP00000109962 Ensembl | 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 27
    Phenotypes 10
  • 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:236520 Zhang Z, et al., Insulin resistance and diabetes caused by genetic or diet-induced KBTBD2 deficiency in mice. Proc Natl Acad Sci U S A. 2016 Oct 18;113(42):E6418-E6426

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
03/19/2019
MGI 6.13
The Jackson Laboratory