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Chkb Gene Detail
Summary
  • Symbol
    Chkb
  • Name
    choline kinase beta
  • Synonyms
    Chetk, Chkl, CK/EK-beta
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328313
    NCBI Gene: 12651
  • Gene Overview
    MyGene.info: CHKB
Location & Maps
more
  • Sequence Map
    Chr15:89416405-89429908 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13504 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 44.89 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CHKB, choline kinase beta
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CHKB, choline kinase beta
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CHETK, CHKL, CK, CKB, CKEKB, EK, EKB, MDCMC
  • Links
    NCBI Gene ID: 1120
    neXtProt AC: NX_Q9Y259

  • Chr Location
    22q13.33; chr22:50578958-50582999 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 88718
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CHKB
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Chkb mouse models; 1 with human CHKB associations

Human Disease Mouse Models
       Muscular Dystrophy, Congenital, Megaconial Type; MDCMC   OMIM: 602541 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 2 alleles in 2 genetic backgrounds
    3 images
    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.
  • All Mutations and Alleles
    5
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Spontaneous
    1
  • Genomic Mutations
    3 involving Chkb
  • Incidental Mutations
Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035435 VEGA Gene Model | MGI Sequence Detail 13504 C57BL/6J ±  kb
transcript OTTMUST00000090614 VEGA | MGI Sequence Detail 1707 Not Applicable  
polypeptide OTTMUSP00000049745 VEGA | MGI Sequence Detail 394 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    15 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 64
    Genomic 2
    cDNA 62

    Microarray probesets 3
References
more
  • Summaries
    All 31
    Developmental Gene Expression 2
    Diseases 2
    Gene Ontology 5
    Phenotypes 26
  • Earliest
    J:49279 Aoyama C, et al., Molecular cloning of mouse choline kinase and choline/ethanolamine kinase: their sequence comparison to the respective rat homologs. Biochim Biophys Acta. 1998 Jul 31;1393(1):179-85
  • Latest
    J:212488 Li Z, et al., Choline kinase beta is required for normal endochondral bone formation. Biochim Biophys Acta. 2014 Jul;1840(7):2112-22

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
11/29/2016
MGI 6.06
The Jackson Laboratory