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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
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:122147687-122153082 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 60.55 cM, cytoband F1-F3
  • Mapping Data
    126 experiments
Strain
Comparison
more
  • SNPs within 2kb
    50 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88127
protein coding gene Chr2:122147686-122153083 (.)
129S1/SvImJ MGP_129S1SvImJ_G0026406
protein coding gene Chr2:125132727-125138114 (+)
A/J MGP_AJ_G0026368
protein coding gene Chr2:120019046-120024436 (+)
AKR/J MGP_AKRJ_G0026345
protein coding gene Chr2:123380130-123385519 (+)
BALB/cJ MGP_BALBcJ_G0026380
protein coding gene Chr2:120248516-120253906 (+)
C3H/HeJ MGP_C3HHeJ_G0026125
protein coding gene Chr2:123867797-123873187 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026827
protein coding gene Chr2:129195593-129200990 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024206
protein coding gene Chr2:114991429-114996922 (+)
CAST/EiJ MGP_CASTEiJ_G0025587
protein coding gene Chr2:124199555-124205024 (+)
CBA/J MGP_CBAJ_G0026104
protein coding gene Chr2:133750950-133756338 (+)
DBA/2J MGP_DBA2J_G0026241
protein coding gene Chr2:119415440-119420830 (+)
FVB/NJ MGP_FVBNJ_G0026203
protein coding gene Chr2:118207645-118213032 (+)
LP/J MGP_LPJ_G0026343
protein coding gene Chr2:125381840-125387229 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026223
protein coding gene Chr2:137955707-137961096 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026882
protein coding gene Chr2:123496141-123501529 (+)
PWK/PhJ MGP_PWKPhJ_G0025323
protein coding gene Chr2:119027815-119033333 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025123
protein coding gene Chr2:122640314-122645718 (+)
WSB/EiJ MGP_WSBEiJ_G0025659
protein coding gene Chr2:124353586-124358976 (+)



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
    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
    685 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12010 NCBI Gene Model | MGI Sequence Detail 5396 C57BL/6J ±  kb
    transcript NM_009735 RefSeq | MGI Sequence Detail 858 C57BL/6  
    polypeptide P01887 UniProt | EBI | MGI Sequence Detail 119 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 61
      Genomic 27
      cDNA 23
      Primer pair 7
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12010, MGD-MRK-1492
    References
    more
    • Summaries
      All 890
      Developmental Gene Expression 19
      Diseases 7
      Gene Ontology 14
      Phenotypes 685
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:266805 Theisen DJ, et al., WDFY4 is required for cross-presentation in response to viral and tumor antigens. Science. 2018 Nov 9;362(6415):694-699

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory