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B2M (beta-2-microglobulin)

Identity

Other aliasIMD43
HGNC (Hugo) B2M
LocusID (NCBI) 567
Atlas_Id 46339
Location 15q21.1  [Link to chromosome band 15q21]
Location_base_pair Starts at 44711487 and ends at 44718159 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
APLP1 (19q13.12) / B2M (15q21.1)B2M (15q21.1) / B2M (15q21.1)B2M (15q21.1) / EEF1D (8q24.3)
B2M (15q21.1) / JADE1 (4q28.2)B2M (15q21.1) / NTNG1 (1p13.3)B2M (15q21.1) / PCBP1 (2p13.3)
B2M (15q21.1) / RACK1 (5q35.3)B2M (15q21.1) / SLC37A3 (7q34)B2M (15q21.1) / SOGA1 (20q11.23)
C6orf48 (6p21.33) / B2M (15q21.1)CD81 (11p15.5) / B2M (15q21.1)COX6B1 (19q13.12) / B2M (15q21.1)
IKZF1 (7p12.2) / B2M (15q21.1)JAK2 (9p24.1) / B2M (15q21.1)PCBP1 (2p13.3) / B2M (15q21.1)
RAD9B (12q24.11) / B2M (15q21.1)RNASE1 (14q11.2) / B2M (15q21.1)ZNF185 (Xq28) / B2M (15q21.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Skin: Melanoma


External links

Nomenclature
HGNC (Hugo)B2M   914
Cards
Entrez_Gene (NCBI)B2M  567  beta-2-microglobulin
AliasesIMD43
GeneCards (Weizmann)B2M
Ensembl hg19 (Hinxton)ENSG00000166710 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166710 [Gene_View]  chr15:44711487-44718159 [Contig_View]  B2M [Vega]
ICGC DataPortalENSG00000166710
TCGA cBioPortalB2M
AceView (NCBI)B2M
Genatlas (Paris)B2M
WikiGenes567
SOURCE (Princeton)B2M
Genetics Home Reference (NIH)B2M
Genomic and cartography
GoldenPath hg38 (UCSC)B2M  -     chr15:44711487-44718159 +  15q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)B2M  -     15q21.1   [Description]    (hg19-Feb_2009)
EnsemblB2M - 15q21.1 [CytoView hg19]  B2M - 15q21.1 [CytoView hg38]
Mapping of homologs : NCBIB2M [Mapview hg19]  B2M [Mapview hg38]
OMIM105200   109700   241600   
Gene and transcription
Genbank (Entrez)AB021288 AF072097 AI686916 AK026463 AK303560
RefSeq transcript (Entrez)NM_004048
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_012920 NT_187605
Consensus coding sequences : CCDS (NCBI)B2M
Cluster EST : UnigeneHs.534255 [ NCBI ]
CGAP (NCI)Hs.534255
Alternative Splicing GalleryENSG00000166710
Gene ExpressionB2M [ NCBI-GEO ]   B2M [ EBI - ARRAY_EXPRESS ]   B2M [ SEEK ]   B2M [ MEM ]
Gene Expression Viewer (FireBrowse)B2M [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)567
GTEX Portal (Tissue expression)B2M
Protein : pattern, domain, 3D structure
UniProt/SwissProtP61769   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP61769  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP61769
Splice isoforms : SwissVarP61769
PhosPhoSitePlusP61769
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IG_MHC (PS00290)   
Domains : Interpro (EBI)B2Microglobulin    Ig-like_dom    Ig-like_fold    Ig/MHC_CS    Ig_C1-set   
Domain families : Pfam (Sanger)C1-set (PF07654)   
Domain families : Pfam (NCBI)pfam07654   
Domain families : Smart (EMBL)IGc1 (SM00407)  
Conserved Domain (NCBI)B2M
DMDM Disease mutations567
Blocks (Seattle)B2M
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyP61769
Human Protein AtlasENSG00000166710
Peptide AtlasP61769
HPRD00189
IPIIPI00004656   IPI00930068   IPI00796379   IPI00383516   
Protein Interaction databases
DIP (DOE-UCLA)P61769
IntAct (EBI)P61769
FunCoupENSG00000166710
BioGRIDB2M
STRING (EMBL)B2M
ZODIACB2M
Ontologies - Pathways
QuickGOP61769
Ontology : AmiGOGolgi membrane  retina homeostasis  positive regulation of T cell mediated cytotoxicity  glycoprotein binding  response to molecule of bacterial origin  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent  antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent  positive regulation of T cell cytokine production  protein binding  extracellular region  extracellular space  endoplasmic reticulum lumen  Golgi apparatus  cytosol  plasma membrane  plasma membrane  focal adhesion  external side of plasma membrane  negative regulation of neuron projection development  ER to Golgi transport vesicle membrane  membrane  antigen processing and presentation of endogenous peptide antigen via MHC class I  phagocytic vesicle membrane  early endosome membrane  early endosome lumen  positive regulation of protein binding  T cell differentiation in thymus  ferric iron import  specific granule lumen  protein refolding  response to drug  MHC class I protein complex  identical protein binding  neutrophil degranulation  cellular protein metabolic process  innate immune response  regulation of erythrocyte differentiation  response to cadmium ion  positive regulation of receptor-mediated endocytosis  regulation of defense response to virus by virus  regulation of immune response  recycling endosome membrane  iron ion homeostasis  interferon-gamma-mediated signaling pathway  extracellular exosome  cellular response to iron ion  cellular response to iron(III) ion  negative regulation of receptor binding  positive regulation of receptor binding  positive regulation of ferrous iron binding  positive regulation of transferrin receptor binding  positive regulation of ferrous iron import across plasma membrane  tertiary granule lumen  HFE-transferrin receptor complex  
Ontology : EGO-EBIGolgi membrane  retina homeostasis  positive regulation of T cell mediated cytotoxicity  glycoprotein binding  response to molecule of bacterial origin  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent  antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent  positive regulation of T cell cytokine production  protein binding  extracellular region  extracellular space  endoplasmic reticulum lumen  Golgi apparatus  cytosol  plasma membrane  plasma membrane  focal adhesion  external side of plasma membrane  negative regulation of neuron projection development  ER to Golgi transport vesicle membrane  membrane  antigen processing and presentation of endogenous peptide antigen via MHC class I  phagocytic vesicle membrane  early endosome membrane  early endosome lumen  positive regulation of protein binding  T cell differentiation in thymus  ferric iron import  specific granule lumen  protein refolding  response to drug  MHC class I protein complex  identical protein binding  neutrophil degranulation  cellular protein metabolic process  innate immune response  regulation of erythrocyte differentiation  response to cadmium ion  positive regulation of receptor-mediated endocytosis  regulation of defense response to virus by virus  regulation of immune response  recycling endosome membrane  iron ion homeostasis  interferon-gamma-mediated signaling pathway  extracellular exosome  cellular response to iron ion  cellular response to iron(III) ion  negative regulation of receptor binding  positive regulation of receptor binding  positive regulation of ferrous iron binding  positive regulation of transferrin receptor binding  positive regulation of ferrous iron import across plasma membrane  tertiary granule lumen  HFE-transferrin receptor complex  
Pathways : BIOCARTAAntigen Processing and Presentation [Genes]    Ras-Independent pathway in NK cell-mediated cytotoxicity [Genes]    CTL mediated immune response against target cells [Genes]   
Pathways : KEGGAntigen processing and presentation   
NDEx NetworkB2M
Atlas of Cancer Signalling NetworkB2M
Wikipedia pathwaysB2M
Orthology - Evolution
OrthoDB567
GeneTree (enSembl)ENSG00000166710
Phylogenetic Trees/Animal Genes : TreeFamB2M
HOVERGENP61769
HOGENOMP61769
Homologs : HomoloGeneB2M
Homology/Alignments : Family Browser (UCSC)B2M
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerB2M [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)B2M
dbVarB2M
ClinVarB2M
1000_GenomesB2M 
Exome Variant ServerB2M
ExAC (Exome Aggregation Consortium)B2M (select the gene name)
Genetic variants : HAPMAP567
Genomic Variants (DGV)B2M [DGVbeta]
DECIPHERB2M [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisB2M 
Mutations
ICGC Data PortalB2M 
TCGA Data PortalB2M 
Broad Tumor PortalB2M
OASIS PortalB2M [ Somatic mutations - Copy number]
Cancer Gene: CensusB2M 
Somatic Mutations in Cancer : COSMICB2M  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDB2M
intOGen PortalB2M
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch B2M
DgiDB (Drug Gene Interaction Database)B2M
DoCM (Curated mutations)B2M (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)B2M (select a term)
intoGenB2M
Cancer3DB2M(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM105200    109700    241600   
Orphanet21509    10349   
MedgenB2M
Genetic Testing Registry B2M
NextProtP61769 [Medical]
TSGene567
GENETestsB2M
Target ValidationB2M
Huge Navigator B2M [HugePedia]
snp3D : Map Gene to Disease567
BioCentury BCIQB2M
ClinGenB2M
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD567
Chemical/Pharm GKB GenePA25207
Clinical trialB2M
Miscellaneous
canSAR (ICR)B2M (select the gene name)
Probes
Litterature
PubMed341 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineB2M
EVEXB2M
GoPubMedB2M
iHOPB2M
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:25:06 CEST 2017

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