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FLASH GENE
Symbol MAN2B1 contributors: mct - updated : 24-01-2014
HGNC name mannosidase, alpha, class 2B, member 1
HGNC id 6826
Corresponding disease
MAN2B1 alpha-mannosidase B deficiency
Location 19p13.2      Physical location : 12.757.321 - 12.777.591
Synonym name
  • lysosomal acid alpha-mannosidase
  • mannosidase, alpha B
    • Synonym symbol(s) LAMAN, MANAB, MANB
    EC.number 3.2.1.24
    DNA
    TYPE functioning gene
    STRUCTURE 20.27 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • promoter showing typical features of housekeeping gene promoters, but alpha-D-mannosidase transcription is specifically regulated in HL60 by NFKB transcription factor
    • MAPPING cloned Y linked N status confirmed
    Map pter - D19S221 - ZNF44 - MAN2B1 MAN2B1 - JUNB - DHPS - TYK2 - DNMT1 - D19S226 - cen
    Authors Gene Map (99)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 3234 - 1010 - 2011 2152117
    24 - 3231 - 1011 - 2011 2152117
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
     mouthtongue  highly
    Lymphoid/Immunespleen   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte Homo sapiens
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Man2b1
    ortholog to rattus man2b1
    Homologene
    FAMILY glycosyl hydrolase 38 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • exoglycosidase
  • involved in processing of Asp-linked (N) glycans
  • playing a necessary for the catabolism of n-linked carbohydrates released during glycoprotein turnover
  • MAN2B1, MAN2B2 act in a complementary fashion on different glycosidic linkages, to effect glycan degradation in the lysosome
  • exoglycosidase involved in the ordered degradation of N-linked oligosaccharides
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component three glycopeptides of 70, 42, 15kD, processed from a single-chain precursor
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    1 zinc ion per subunit
    protein
    cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) MAN2B1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS