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FLASH GENE
Symbol B2M contributors: mct - updated : 08-09-2017
HGNC name beta-2-microglobulin
HGNC id 914
Corresponding disease
AFHR amyloidosis familial, hemodialysis-related (B2M deposit)
IMD43 Immunodeficiency 43
Location 15q21.1      Physical location : 45.003.684 - 45.010.356
Synonym name
  • beta chain of MHC class I molecules
  • DNA
    TYPE functioning gene
    STRUCTURE 6.67 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 987 - 119 - 2017 28468825
  • a 20 aa signal peptide of 2 kda
  • a 99 mature peptide of 11.7 kda
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   highly
    Digestiveesophagus   highly
     mouth   highly
     pancreas exocrine   highly
     pharynx   predominantly
     stomach   highly
    Endocrineadrenal gland   highly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemuterus   
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Connectiveadipose  highly
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion highly in blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 20 aa signal peptide of 2 kda
  • an Ig-like C1-type (immunoglobulin-like) domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus B2m (69.8 pc)
    homolog to murine B2m (68.1 pc)
    Homologene
    FAMILY
  • Ig superfamily
  • beta-2-microglobulin family
  • CATEGORY secretory , transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    text
  • secreted
  • basic FUNCTION
  • involved in antigen processing and presentation of peptide antigen via MHC class I
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
  • being a beta-chain of major histocompatibility complex class I molecules
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CD1A, CD1B, CD1C associated
  • interacting with the NTR (netrin-like) domain of PCOLCE (Morimoto 2008)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AFHR , IMD43
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in tumoral cells with loss of HLA class 1 antigen
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS