Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
567
Gene name Gene Name - the full gene name approved by the HGNC.
Beta-2-microglobulin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
B2M
Synonyms (NCBI Gene) Gene synonyms aliases
AMYLD6, IMD43, MHC1D4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AMYLD6, IMD43
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
NFKB1 Activation 12480693
USF1 Activation 12480693
USF2 Activation 12480693
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001895 Process Retina homeostasis HEP 23580065
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IEA
GO:0002237 Process Response to molecule of bacterial origin IEA
GO:0002474 Process Antigen processing and presentation of peptide antigen via MHC class I TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
109700 914 ENSG00000166710
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyloidosis Amyloidosis, familial visceral rs63750567, rs63750560, rs387906821, rs387906822, rs387906823, rs1561123748, rs140352180, rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101 22693999
Autoimmune diseases Autoimmune Diseases rs869025224 21793797
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Carcinoma of the head and neck Squamous cell carcinoma of the head and neck rs121909237, rs121909250, rs121909251, rs121909252, rs28934571, rs28934574, rs28934576, rs28934578, rs121912664, rs397516436, rs121912666, rs397514495, rs587782705, rs193920774, rs730882001
View all (7 more)
26619011
Unknown
Disease term Disease name Evidence References Source
Variant ABeta2M Amyloidosis variant ABeta2M amyloidosis GenCC
Hypoproteinemia, Hypercatabolic hypoproteinemia, hypercatabolic GenCC
Associations from Text Mining
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