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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
    Physical map
    LOC389777 9 LOC389777 LOC286359 9q22.33 hypothetical protein LOC286359 PCTAIRE2BP 9q22.33 tudor repeat associator with PCTAIRE 2 TMOD1 9q22.32-q22.33 tropomodulin 1 LOC158427 9q22.33 PP4189 NCBP1 9q34.1 nuclear cap binding protein subunit 1, 80kDa XPA 9q22.32 xeroderma pigmentosum, complementation group A LOC392371 9 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) FOXE1 9q22.3 forkhead box E1 (thyroid transcription factor 2) NAP1 19q13.33 pronapsin A HEMGN 9q22.33 hemogen ANP32B 9q22.32 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B NANS 9p24.1-p23 N-acetylneuraminic acid synthase (sialic acid synthase) TRIM14 9q22.32 tripartite motif-containing 14 CORO2A 9q22.3 coronin, actin binding protein, 2A TBC1D2 9q22.33 TBC1 domain family, member 2 GPR51 9q22.1 G protein-coupled receptor 51 SAMD6 9q31.1 sterile alpha motif domain containing 6 GALNT12 9q22.33 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) LOC392372 9 similar to Nucleoside diphosphate kinase B (NDK B) (NDP kinase B) (P18) COL15A1 9q22.32-q22.33 collagen, type XV, alpha 1 TGFBR1 9q22 transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) ALG2 9q31.1 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase) SEC61B 9q22.32-q31.3 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase) LOC347265 9q31.1 similar to bA13B9.3 (novel protein similar to KRT8) LOC389778 9 LOC389778 NR4A3 9q22.32-q22.33 nuclear receptor subfamily 4, group A, member 3 STX17 9q31.1 syntaxin 17 INVS 9q31 inversin FLJ20287 9q31.1 hypothetical protein FLJ20287 MGC17337 9q31.1 similar to RIKEN cDNA 5730528L13 gene TMEFF1 9q31 transmembrane protein with EGF-like and two follistatin-like domains 1 LOC347273 9q31.1 similar to RIKEN cDNA 2310039E09 LOC392373 9 similar to ACTB protein LOC392374 9 similar to uracil DNA glycosylase
    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