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Bub1b Gene Detail
Summary
  • Symbol
    Bub1b
  • Name
    BUB1B, mitotic checkpoint serine/threonine kinase
  • Synonyms
    BUBR1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333889
    NCBI Gene: 12236
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:118428692-118472072 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 59.40 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1185 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1333889
 protein coding gene Chr2:118428684-118472073 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026317
 protein coding gene Chr2:121285433-121332544 (+)
A/J MGP_AJ_G0026278
 protein coding gene Chr2:116367799-116415076 (+)
AKR/J MGP_AKRJ_G0026257
 protein coding gene Chr2:119632667-119679878 (+)
BALB/cJ MGP_BALBcJ_G0026291
 protein coding gene Chr2:116622578-116669926 (+)
C3H/HeJ MGP_C3HHeJ_G0026037
 protein coding gene Chr2:120091279-120138352 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026738
 protein coding gene Chr2:125301489-125345172 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024118
 protein coding gene Chr2:111411132-111461001 (+)
CAST/EiJ MGP_CASTEiJ_G0025499
 protein coding gene Chr2:120401685-120448303 (+)
CBA/J MGP_CBAJ_G0026013
 protein coding gene Chr2:129720847-129769366 (+)
DBA/2J MGP_DBA2J_G0026152
 protein coding gene Chr2:115785864-115833135 (+)
FVB/NJ MGP_FVBNJ_G0026114
 protein coding gene Chr2:114614318-114662599 (+)
LP/J MGP_LPJ_G0026253
 protein coding gene Chr2:121612621-121664301 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026133
 protein coding gene Chr2:134085305-134134415 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026793
 protein coding gene Chr2:119754405-119801777 (+)
PWK/PhJ MGP_PWKPhJ_G0025235
 protein coding gene Chr2:115340194-115387308 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025034
 protein coding gene Chr2:118918048-118969846 (+)
WSB/EiJ MGP_WSBEiJ_G0025568
 protein coding gene Chr2:120568934-120618214 (+)



Homology
more
  • Human Ortholog
    BUB1B, BUB1 mitotic checkpoint serine/threonine kinase B
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BUB1B, BUB1 mitotic checkpoint serine/threonine kinase B
  • Synonyms
    Bub1A, BUB1beta, BUBR1, hBUBR1, MAD3L, MVA1, SSK1
  • Links
    NCBI Gene ID: 701
    neXtProt AC: NX_O60566
    UniProt: O60566

  • Chr Location
    15q15.1; chr15:40161023-40221123 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Bub1b mouse models; 2 with human BUB1B associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
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
less
  • Phenotype Summary
    79 phenotypes from 6 alleles in 8 genetic backgrounds
    9 phenotypes from multigenic genotypes
    6 images
    48 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.
Homozygous mutant embryos undergo extensive apoptosis and die during early gestation. Heterozygous mice are viable and exhibit splenomegaly, abnormal megakaryopoiesis, and an increased susceptibility to intestinal tumorigenesis. Hypomorphic homozygotes display infertility and premature aging.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    54
  • GO References
    22
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
    1198
  • Tissues
    169
  • cDNA Data
    141
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040084 Ensembl Gene Model | MGI Sequence Detail 43381 C57BL/6J ±  kb
    transcript ENSMUST00000038341 Ensembl | MGI Sequence Detail 3668 Not Applicable  
    polypeptide ENSMUSP00000037126 Ensembl | MGI Sequence Detail 1052 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 147
      cDNA 141
      Primer pair 6

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2139222
    References
    more
    • Summaries
      All 116
      Developmental Gene Expression 19
      Diseases 2
      Gene Ontology 22
      Phenotypes 48
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:342123 Sterling NA, et al., P53 independent pathogenic mechanisms contribute to BubR1 microcephaly. Front Cell Dev Biol. 2023;11:1282182
    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
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory