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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
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
    125 experiments
Homology
more
  • Human Ortholog
    B2M, beta-2-microglobulin
  • Vertebrate Orthologs
    11
  • Human Ortholog
    B2M, beta-2-microglobulin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    IMD43
  • Links
    NCBI Gene ID: 567
    neXtProt AC: NX_P61769

  • Chr Location
    15q21.1; chr15:44711487-44718159 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Diabetes Mellitus, Insulin-Dependent; IDDM   OMIM: 222100
       Amyloidosis, Familial Visceral   OMIM: 105200
Immunodeficiency 43; IMD43   OMIM: 241600
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 5 alleles in 9 genetic backgrounds
    77 phenotypes from multigenic genotypes
    645 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
    45
  • Chemically induced (other)
    1
  • Gene trapped
    26
  • Radiation induced
    1
  • Targeted
    6
  • Transgenic
    11
  • Genomic Mutations
    2 involving B2m
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
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 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
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  • SNPs within 2kb
    50 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 58
    Genomic 27
    cDNA 21
    Primer pair 6
    Other 4

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-12010, MGD-MRK-1492
References
more
  • Summaries
    All 809
    Developmental Gene Expression 20
    Diseases 5
    Gene Ontology 12
    Phenotypes 645
  • Earliest
    J:1872 Tada N, et al., Ly-m11: the H-3 region of mouse chromosome 2 controls a new surface alloantigen. Immunogenetics. 1980;11(5):441-9
  • Latest
    J:232648 Madera S, et al., Type I IFN promotes NK cell expansion during viral infection by protecting NK cells against fratricide. J Exp Med. 2016 Feb 8;213(2):225-33

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
08/17/2016
MGI 6.05
The Jackson Laboratory