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FLASH GENE
Symbol ALG2 contributors: mct/npt - updated : 20-11-2009
HGNC name asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)
HGNC id 23159
Corresponding disease
CDG1I congenital disorder of glycosylation, type 1I
CMSAL2 congenital myasthenic syndrome with ALG2 deficiency
Location 9q22.33      Physical location : 101.978.707 - 101.984.246
Synonym name
  • asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)
  • asparagine-linked glycosylation 2
  • GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase
  • homolog of yeast ALG2
  • Synonym symbol(s) CDGIi, hALPG2, FLJ14511, NET38
    EC.number 2.4.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 5.54 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2834 47 416 - Clark, Okumura (2009)
    isoform 1
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Reproductivemale systemprostate  highly
    Respiratoryrespiratory tracttrachea  highly
    Urinarykidney   highly
    Visualeyeretina   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • glycosyltransferase group 1 domain
  • five EF-hand calcium domains
  • HOMOLOGY
    interspecies ortholog to murine Alg2
    Homologene
    FAMILY
  • glycosyltransferase 1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    text in addition to its presence in the nucleus, ALG-2 was found to be distributed in a punctate pattern in the cytoplasm, where it was partly co-stained with an endoplasmic reticulum (ER) exit site marker p125 (Shibata 2007)
    basic FUNCTION
  • acting as an alpha 1-3 mannosyltransferase
  • prior to its lumenal translocation and transfer to nascent glycoproteins, involved in mannosylation of Man(5)GlcNAc(2)-PP-dolichol (Gao 2004)
  • functions as a Ca2+-dependent adaptor that bridges PDCD6IP and TSG101 (Okumura 2009)
  • has an anti-apoptotic function in HeLa cells by facilitating the passage through checkpoints in the G2/M cell cycle phase (Hoj 2009)
  • recruited to ER exit sites via Ca(2+)-dependent interaction with SEC31A and in turn stabilizes the localization of SEC31A at these sites (Yamasaki 2006)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
  • glycosylation
  • with PDCD6IP, are new actors of the TNFRSF1A pathway (Mahul-Mellier 2008)
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between ALG1, ALG2, ALG11 (an additional level of regulation that ensures the fidelity of complex oligosaccharide structures involves the physical association of the related catalytic enzymes in the ER membrane)(Gao 2004)
  • interaction with PDCD6IP, TSG101 (PDCD6IP and TSG101, known to physically interact with each other, have Pro-rich regions that are bound by ALG2 Ca2+-dependently)(Okumura 2009)
  • Scotin (SHISA5) is a ALG2 target protein ( binding of ALG22 to Scotin was demonstrated to be strictly calcium dependent indicating a role of this interaction in calcium signaling pathways)(Draeby 2007)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG1I , CMSAL2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in lung cancer tissue (la Cour 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS