Homo sapiens Protein: B2M
Summary
InnateDB Protein IDBP-596485.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B2M
Protein Name beta-2-microglobulin
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000453350
InnateDB Gene IDBG-9902 (B2M)
Protein Structure
UniProt Annotation
Function Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system.
Subcellular Localization Secreted {ECO:0000269PubMed:1336137, ECO:0000269PubMed:7554280}. Note=Detected in serum and urine.
Disease Associations Hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600]: Affected individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation. {ECO:0000269PubMed:16549777}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Beta-2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states. The capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum levels lead to amyloidosis in patients on long-term hemodialysis.
Tissue Specificity
Comments
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: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:0016032 viral process
GO:0019221 cytokine-mediated signaling pathway
GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I
GO:0045087 innate immune response
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: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
Protein Structure and Domains
PDB ID
InterPro IPR003597 Immunoglobulin C1-set
IPR007110 Immunoglobulin-like domain
PFAM PF07654
PRINTS
PIRSF
SMART SM00407
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P61769
PhosphoSite PhosphoSite-P61769
TrEMBL Q9UM88
UniProt Splice Variant
Entrez Gene 567
UniGene Hs.623704
RefSeq
HUGO HGNC:914
OMIM 109700
CCDS CCDS10113
HPRD 00189
IMGT
EMBL AB021288 AC025270 AC122108 AF072097 AK315776 AY007153 AY187687 BC032589 BC064910 CH471082 CR457066 DQ217933 M17986 M17987 S82300 V00567
GenPept AAA51811 AAD14388 AAD48083 AAG02006 AAH32589 AAH64910 AAO20842 ABB01003 BAA35182 BAG38125 CAA23830 CAG33347 EAW77277