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FLASH GENE
Symbol B3GALNT2 contributors: mct - updated : 03-04-2013
HGNC name UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2
HGNC id 28596
Corresponding disease
MDC1B muscular dystrophy, congenital, 1B
Location 1q42.3      Physical location : 235.610.532 - 235.667.781
Synonym symbol(s) MGC39558, B3GalNAc-T2
EC.number 2.4.1.-
DNA
TYPE functioning gene
STRUCTURE 57.25 kb     12 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 4720 - 500 - 2013 23453667
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
Reproductivefemale systemovary   
 male systemtestis  highly
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose   
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a domain with beta1,3-glycosyltransferase motifs, which are widely conserved in the beta1,3-galactosyltransferase and beta1,3-N-acetylglucosaminyltransferase families
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus
    text
  • type II membrane protein
  • localized to the endoplasmic reticulum
  • basic FUNCTION
  • synthesizing a unique carbohydrate structure, GalNAcbeta1-3GlcNAc on N- and O-glycans
  • transfers N-acetyl galactosamine (GalNAc) in a beta-1,3 linkage to N-acetyl glucosamine (GlcNAc)
  • role for B3GALNT2 in the glycosylation of alpha-Dystroglycan
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MDC1B
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS