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Apob Gene Detail
Summary
  • Symbol
    Apob
  • Name
    apolipoprotein B
  • Synonyms
    apob-100, apob-48
  • Feature Type
    protein coding gene
  • IDs
    MGI:88052
    NCBI Gene: 238055
  • Gene Overview
    MyGene.info: APOB
Location & Maps
more
  • Sequence Map
    Chr12:7977648-8016835 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39188 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 3.53 cM
  • Mapping Data
    26 experiments
Homology
more
  • Human Ortholog
    APOB, apolipoprotein B
  • Vertebrate Orthologs
    9
  • Human Ortholog
    APOB, apolipoprotein B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    apoB-100, apoB-48, FLDB, LDLCQ4
  • Links
    NCBI Gene ID: 338
    neXtProt AC: NX_P04114

  • Chr Location
    2p24-p23; chr2:20999218-21044073 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 328
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: APOB
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Apob mouse models; 3 with human APOB associations

Human Disease Mouse Models
       Apolipoprotein B; APOB   OMIM: 107730 View 8 models
       Hypobetalipoproteinemia, Familial, 2; FHBL2   OMIM: 605019 View 2 models
       Hypercholesterolemia, Autosomal Dominant, Type B   OMIM: 144010
Hypobetalipoproteinemia, Familial, 1; FHBL1   OMIM: 615558
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 11 alleles in 8 genetic backgrounds
    33 phenotypes from multigenic genotypes
    3 images
    109 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 null mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable.
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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035465 VEGA Gene Model | MGI Sequence Detail 39188 C57BL/6J ±  kb
transcript OTTMUST00000090769 VEGA | MGI Sequence Detail 13934 Not Applicable  
polypeptide OTTMUSP00000049845 VEGA | MGI Sequence Detail 4505 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    295 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000004145 apolipoprotein B-100
  • InterPro Domains
    IPR022176 Apolipoprotein B100 C-terminal
    IPR009454 Lipid transport, open beta-sheet
    IPR015819 Lipid transport protein, beta-sheet shell
    IPR001747 Lipid transport protein, N-terminal
    IPR015816 Vitellinogen, beta-sheet N-terminal
    IPR015255 Vitellinogen, open beta-sheet
    IPR015817 Vitellinogen, open beta-sheet, subdomain 1
    IPR015818 Vitellinogen, open beta-sheet, subdomain 2
    IPR011030 Vitellinogen, superhelical
Molecular
Reagents
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  • All nucleic 65
    Genomic 4
    cDNA 59
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-1370, MGI:2144785
References
more
  • Summaries
    All 164
    Developmental Gene Expression 18
    Diseases 10
    Gene Ontology 24
    Phenotypes 109
  • Earliest
    J:24996 Mahley RW, et al., Plasma lipoproteins: apolipoprotein structure and function. J Lipid Res. 1984 Dec 1;25(12):1277-94
  • Latest
    J:229542 Sims-Robinson C, et al., The role of endoplasmic reticulum stress in hippocampal insulin resistance. Exp Neurol. 2016 Mar;277:261-7

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory