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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
15
Cytoband
q21.1
Chromosome location (bp)
44711358 - 44718851
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation 1....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Immunity
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P61769 [Direct mapping] Beta-2-microglobulin Beta-2-microglobulin form pI 5.3
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Transporters MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000139[Golgi membrane] GO:0001895[retina homeostasis] GO:0002376[immune system process] GO:0002474[antigen processing and presentation of peptide antigen via MHC class I] GO:0002503[peptide antigen assembly with MHC class II protein complex] GO:0002726[positive regulation of T cell cytokine production] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005788[endoplasmic reticulum lumen] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006955[immune response] GO:0007611[learning or memory] GO:0009986[cell surface] GO:0012507[ER to Golgi transport vesicle membrane] GO:0016020[membrane] GO:0019885[antigen processing and presentation of endogenous peptide antigen via MHC class I] GO:0019886[antigen processing and presentation of exogenous peptide antigen via MHC class II] GO:0023026[MHC class II protein complex binding] GO:0030670[phagocytic vesicle membrane] GO:0031901[early endosome membrane] GO:0031905[early endosome lumen] GO:0032092[positive regulation of protein binding] GO:0034756[regulation of iron ion transport] GO:0035580[specific granule lumen] GO:0042612[MHC class I protein complex] GO:0042613[MHC class II protein complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042824[MHC class I peptide loading complex] GO:0048260[positive regulation of receptor-mediated endocytosis] GO:0050680[negative regulation of epithelial cell proliferation] GO:0050768[negative regulation of neurogenesis] GO:0050870[positive regulation of T cell activation] GO:0051289[protein homotetramerization] GO:0055038[recycling endosome membrane] GO:0055072[iron ion homeostasis] GO:0070062[extracellular exosome] GO:0071281[cellular response to iron ion] GO:0071316[cellular response to nicotine] GO:1900121[negative regulation of receptor binding] GO:1900122[positive regulation of receptor binding] GO:1904434[positive regulation of ferrous iron binding] GO:1904437[positive regulation of transferrin receptor binding] GO:1904724[tertiary granule lumen] GO:1990000[amyloid fibril formation] GO:1990712[HFE-transferrin receptor complex] GO:2000774[positive regulation of cellular senescence] GO:2000978[negative regulation of forebrain neuron differentiation]
P61769 [Direct mapping] Beta-2-microglobulin Beta-2-microglobulin form pI 5.3
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Transporters MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000139[Golgi membrane] GO:0001895[retina homeostasis] GO:0001913[T cell mediated cytotoxicity] GO:0001916[positive regulation of T cell mediated cytotoxicity] GO:0002237[response to molecule of bacterial origin] GO:0002376[immune system process] GO:0002474[antigen processing and presentation of peptide antigen via MHC class I] GO:0002481[antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent] GO:0002503[peptide antigen assembly with MHC class II protein complex] GO:0002726[positive regulation of T cell cytokine production] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005788[endoplasmic reticulum lumen] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006826[iron ion transport] GO:0006955[immune response] GO:0007608[sensory perception of smell] GO:0007611[learning or memory] GO:0009897[external side of plasma membrane] GO:0009986[cell surface] GO:0010977[negative regulation of neuron projection development] GO:0012507[ER to Golgi transport vesicle membrane] GO:0016020[membrane] GO:0019885[antigen processing and presentation of endogenous peptide antigen via MHC class I] GO:0019886[antigen processing and presentation of exogenous peptide antigen via MHC class II] GO:0023026[MHC class II protein complex binding] GO:0030670[phagocytic vesicle membrane] GO:0031901[early endosome membrane] GO:0031905[early endosome lumen] GO:0032092[positive regulation of protein binding] GO:0033077[T cell differentiation in thymus] GO:0034756[regulation of iron ion transport] GO:0035580[specific granule lumen] GO:0042026[protein refolding] GO:0042612[MHC class I protein complex] GO:0042613[MHC class II protein complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042824[MHC class I peptide loading complex] GO:0045646[regulation of erythrocyte differentiation] GO:0048260[positive regulation of receptor-mediated endocytosis] GO:0050680[negative regulation of epithelial cell proliferation] GO:0050768[negative regulation of neurogenesis] GO:0050870[positive regulation of T cell activation] GO:0051289[protein homotetramerization] GO:0055038[recycling endosome membrane] GO:0055072[iron ion homeostasis] GO:0070062[extracellular exosome] GO:0071281[cellular response to iron ion] GO:0071283[cellular response to iron(III) ion] GO:0071316[cellular response to nicotine] GO:1900121[negative regulation of receptor binding] GO:1900122[positive regulation of receptor binding] GO:1904434[positive regulation of ferrous iron binding] GO:1904437[positive regulation of transferrin receptor binding] GO:1904724[tertiary granule lumen] GO:1990000[amyloid fibril formation] GO:1990712[HFE-transferrin receptor complex] GO:2000774[positive regulation of cellular senescence] GO:2000978[negative regulation of forebrain neuron differentiation]
The Human Protein Atlas project is funded
