Gene Gene information from NCBI Gene database.
Entrez ID 567
Gene name Beta-2-microglobulin
Gene symbol B2M
Synonyms (NCBI Gene)
AMYLD6IMD43MHC1D4
Chromosome 15
Chromosome location 15q21.1
Summary This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fib
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs398122820 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
922
miRTarBase ID miRNA Experiments Reference
MIRT028088 hsa-miR-93-5p Sequencing 20371350
MIRT072257 hsa-miR-3609 PAR-CLIP 20371350
MIRT072258 hsa-miR-548ah-5p PAR-CLIP 20371350
MIRT072248 hsa-miR-106a-5p PAR-CLIP 20371350
MIRT072250 hsa-miR-106b-5p PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
NFKB1 Activation 12480693
USF1 Activation 12480693
USF2 Activation 12480693
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
85
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001913 Process T cell mediated cytotoxicity IEA
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IEA
GO:0002237 Process Response to molecule of bacterial origin IEA
GO:0002376 Process Immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
109700 914 ENSG00000166710
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61769
Protein name Beta-2-microglobulin [Cleaved into: Beta-2-microglobulin form pI 5.3]
Protein function Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its
PDB 1A1M , 1A1N , 1A1O , 1A6Z , 1A9B , 1A9E , 1AGB , 1AGC , 1AGD , 1AGE , 1AGF , 1AKJ , 1AO7 , 1B0G , 1B0R , 1BD2 , 1C16 , 1CE6 , 1CG9 , 1DE4 , 1DUY , 1DUZ , 1E27 , 1E28 , 1EEY , 1EEZ , 1EFX , 1EXU , 1GZP , 1GZQ , 1HHG , 1HHH , 1HHI , 1HHJ , 1HHK , 1HLA , 1HSA , 1HSB , 1I1F , 1I1Y , 1I4F , 1I7R , 1I7T , 1I7U , 1IM3 , 1IM9 , 1JF1 , 1JGD , 1JGE , 1JHT , 1JNJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07654 C1-set 27 107 Immunoglobulin C1-set domain Domain
Sequence
Sequence length 119
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Antigen processing and presentation
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
  ER-Phagosome pathway
Endosomal/Vacuolar pathway
Nef mediated downregulation of MHC class I complex cell surface expression
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
DAP12 interactions
DAP12 signaling
Neutrophil degranulation
Interferon gamma signaling
Modulation by Mtb of host immune system
Amyloid fiber formation
Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
66
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyloidosis, hereditary systemic 6 Likely pathogenic rs1057519879 RCV005009638
Familial visceral amyloidosis, Ostertag type Likely pathogenic; Pathogenic rs863225287, rs398122820 RCV002478720
RCV000024598
Hypoproteinemia, hypercatabolic Likely pathogenic rs863225287, rs1057519879 RCV000201934
RCV005009638
Non-Hodgkin lymphoma Pathogenic rs398122820 RCV000989305
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
B2M-related condition Likely benign rs1041811739 RCV004758890
Familial cancer of breast Likely benign rs755877298 RCV005936603
Malignant lymphoma, large B-cell, diffuse - rs1023835002 RCV005900734
Neoplasm - rs1023835002 RCV004668939
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 10651797, 11231354, 12958308, 15100226, 21255727, 24014031, 24262149, 24336936, 32661194, 36328246, 36864041, 8887286
Acquired Immunodeficiency Syndrome Associate 12531797
Adenocarcinoma of Lung Associate 37783508
Alzheimer Disease Associate 32989152
Amyloidosis Associate 11231354, 11318968, 11849381, 12958308, 14675065, 15100226, 16901902, 17242436, 20028983, 20506535, 22895515, 24014031, 24336936, 25803608, 27150430
View all (13 more)
Amyloidosis Stimulate 35615856
Amyloidosis Familial Associate 24014031, 27380955, 29455155, 31416179, 35613051
Amyotrophic lateral sclerosis 1 Associate 23006766
Anodontia Associate 22353804
Arthritis Associate 30770760