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B2m Gene Detail
Summary
  • Symbol
    B2m
  • Name
    beta-2 microglobulin
  • Synonyms
    beta2-m, beta 2 microglobulin, Ly-m11
  • Feature Type
    protein coding gene
  • IDs
    MGI:88127
    NCBI Gene: 12010
  • Gene Overview
    MyGene.info: B2M
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:122147686-122153083 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5398 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 60.55 cM, cytoband F1-F3
  • Mapping Data
    126 experiments
Homology
more
  • Human Ortholog
    B2M, beta-2-microglobulin
  • Vertebrate Orthologs
    11
  • Human Ortholog
    B2M, beta-2-microglobulin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    IMD43
  • Links
    NCBI Gene ID: 567
    neXtProt AC: NX_P61769
    UniProt: P61769

  • Chr Location
    15q21.1; chr15:44711487-44718159 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 2987
    1 human;1 mouse;1 rat;1 chimpanzee;2 cattle;1 dog;1 chicken;2 zebrafish;1 macaque, rhesus
  • HCOP
    human homology predictions: B2M
  • Gene Tree
    B2m
Human Diseases
more
  • Diseases
    1 with B2m mouse models; 1 with human B2M associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 5 alleles in 9 genetic backgrounds
    81 phenotypes from multigenic genotypes
    674 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.
Homozygotes lacking B2m appear normal, but have no detectable MHC class I antigen on their cells and are deficient in CD4- CD8+ T cells which mediate cytotoxic T cell function. Mutant mice are also subject to systemic iron loading.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000015534 VEGA Gene Model | MGI Sequence Detail 5398 C57BL/6J ±  kb
    transcript OTTMUST00000036889 VEGA | MGI Sequence Detail 860 Not Applicable  
    polypeptide OTTMUSP00000016550 VEGA | MGI Sequence Detail 119 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      50 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 60
      Genomic 27
      cDNA 22
      Primer pair 7
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12010, MGD-MRK-1492
    References
    more
    • Summaries
      All 879
      Developmental Gene Expression 20
      Diseases 7
      Gene Ontology 14
      Phenotypes 674
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:261808 Mao K, et al., Innate and adaptive lymphocytes sequentially shape the gut microbiota and lipid metabolism. Nature. 2018 Feb 8;554(7691):255-259

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory