Homo sapiens Gene: B2M
Summary
InnateDB Gene IDBG-9902.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B2M
Gene Name beta-2-microglobulin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000166710
Encoded Proteins
beta-2-microglobulin
beta-2-microglobulin
beta-2-microglobulin
beta-2-microglobulin
beta-2-microglobulin
beta-2-microglobulin
beta-2-microglobulin
beta-2-microglobulin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 fibrils in some pathological conditions. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Sep 2009]
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 fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:44711477-44718877
Strand Forward strand
Band q21.1
Transcripts
ENST00000349264 ENSP00000340858
ENST00000558401 ENSP00000452780
ENST00000559720 ENSP00000453023
ENST00000561424 ENSP00000453191
ENST00000559916 ENSP00000453350
ENST00000557901 ENSP00000452861
ENST00000559907
ENST00000560681
ENST00000559220
ENST00000561139 ENSP00000453186
ENST00000560556
ENST00000544417 ENSP00000437604
ENST00000623550
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 188 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 188 [view]
Protein-Protein 175 [view]
Protein-DNA 9 [view]
Protein-RNA 4 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042802 identical protein binding
Biological Process
GO:0001895 retina homeostasis
GO:0001916 positive regulation of T cell mediated cytotoxicity
GO:0002237 response to molecule of bacterial origin
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
GO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent
GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent
GO:0006955 immune response
GO:0016032 viral process
GO:0019221 cytokine-mediated signaling pathway
GO:0033077 T cell differentiation in thymus
GO:0042026 protein refolding
GO:0042493 response to drug
GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I
GO:0045087 innate immune response
GO:0046686 response to cadmium ion
GO:0050690 regulation of defense response to virus by virus
GO:0050776 regulation of immune response
GO:0060333 interferon-gamma-mediated signaling pathway
Cellular Component
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005788 endoplasmic reticulum lumen
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0030670 phagocytic vesicle membrane
GO:0031901 early endosome membrane
GO:0031905 early endosome lumen
GO:0042612 MHC class I protein complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
DAP12 signaling pathway
Antigen Presentation: Folding, assembly and peptide loading of class I MHC pathway
Cytokine Signaling in Immune system pathway
Innate Immune System pathway
Endosomal/Vacuolar pathway pathway
ER-Phagosome pathway pathway
Amyloids pathway
Interferon Signaling pathway
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters pathway
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell pathway
Antigen processing-Cross presentation pathway
Adaptive Immune System pathway
Immune System pathway
Interferon gamma signaling pathway
HIV Infection pathway
Class I MHC mediated antigen processing & presentation pathway
Nef mediated downregulation of MHC class I complex cell surface expression pathway
The role of Nef in HIV-1 replication and disease pathogenesis pathway
Host Interactions of HIV factors pathway
Disease pathway
DAP12 interactions pathway
KEGG
Antigen processing and presentation pathway
INOH
PID BIOCARTA
Ras-independent pathway in nk cell-mediated cytotoxicity [Biocarta view]
Antigen processing and presentation [Biocarta view]
PID NCI
TCR signaling in na´ve CD8+ T cells
Downstream signaling in na´ve CD8+ T cells
IL12-mediated signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.623704
RefSeq NM_004048 XM_005254549 XM_006725182
HUGO
OMIM
CCDS CCDS10113
HPRD 00189
IMGT
EMBL
GenPept
RNA Seq Atlas