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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
    Physical map
    MAP1A 15q13-qter microtubule-associated protein 1A KIAA0377 15q15-q21.2 microtubule-associated protein 1A CKMT1 15q15 creatine kinase, mitochondrial 1 (ubiquitous) STRC 15q15.3 stereocilin CATSPER2 15q13-q15 cation channel, sperm associated 2 GRP58 15q15 glucose regulated protein, 58kDa ELL3 15q15.1 elongation factor RNA polymerase II-like 3 SERF2 15q13.1 small EDRK-rich factor 2 HYPK 15q14 small EDRK-rich factor 2 MFAP1 15q15-q21 microfibrillar-associated protein 1 FLJ12973 15q15.1 hypothetical protein FLJ12973 MGC14161 15q15.1 hypothetical protein MGC14161 ACTBP7 15q15.3 actin, beta pseudogene 7 H63 15q15.1 H63 breast cancer expressed gene HSPC129 15q15.1 hypothetical protein HSPC129 EIF3S1 15q15.3 eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa FLJ21439 15q14 hypothetical protein FLJ21439 LOC197135 15q15.1 similar to RIKEN cDNA 4930424G05 B2M 15q21-q22.2 beta-2-microglobulin RNF36 15q14 ring finger protein 36 LOC116166 15q15.1 similar to Sorbitol dehydrogenase (L-iditol 2-dehydrogenase) MGC33951 15q15.1 hypothetical protein MGC33951 SORD 15q15 sorbitol dehydrogenase DUOX2 15q15.3-q21 dual oxidase 2 FLJ32334 15q15.1 hypothetical protein FLJ32334 DUOX1 15q15.3-q21 dual oxidase 1 LOC90525 15q15.1 hypothetical protein BC007586 SLC28A2 15q15 solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 GATM 15q14.2 glycine amidinotransferase (L-arginine:glycine amidinotransferase) MGC5347 15q15.1 hypothetical protein MGC5347 NMES1 15q15.1 normal mucosa of esophagus specific 1 SLC30A4 15q15-q21.1 solute carrier family 30 (zinc transporter), member 4 FLJ39426 15q15.1 hypothetical protein FLJ39426 PLDN 15q14 pallidin homolog (mouse) SQRDL 15q15 sulfide quinone reductase-like (yeast) LOC145660 15q15.1 hypothetical LOC145660
    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