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ALG2 Gene

protein-coding   GIFtS: 63
GCID: GC09M101978

ALG2, Alpha-1,3/1,6-Mannosyltransferase

(Previous names: asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase),...)
  See ALG2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ALG2, Alpha-1,3/1,6-Mannosyltransferase1 2     Alpha-1,3/1,6-Mannosyltransferase ALG22
Asparagine-Linked Glycosylation 2 Homolog (Yeast,
Alpha-1,3-Mannosyltransferase)1 2
     Asparagine-Linked Glycosylation 2 Homolog (S. Cerevisiae,
Alpha-1,3-Mannosyltransferase)2
Asparagine-Linked Glycosylation Protein 2 Homolog2 3     Asparagine-Linked Glycosylation 2, Alpha-1,3-Mannosyltransferase Homolog2
GDP-Man:Man(1)GlcNAc(2)-PP-Dol Alpha-1,3-Mannosyltransferase2 3     hALPG22
GDP-Man:Man(1)GlcNAc(2)-PP-Dolichol Mannosyltransferase2 3     Homolog Of Yeast ALG22
GDP-Man:Man(2)GlcNAc(2)-PP-Dol Alpha-1,6-Mannosyltransferase2 3     EC 2.4.1.1323
Asparagine-Linked Glycosylation 2, Alpha-1,3-Mannosyltransferase Homolog
(S. Cerevisiae)1
     EC 2.4.1.2573
CDGIi2     CDGII5
NET382     EC 2.4.18
Alpha-1,3-Mannosyltransferase ALG22     

External Ids:    HGNC: 231591   Entrez Gene: 853652   Ensembl: ENSG000001195237   OMIM: 6079055   UniProtKB: Q9H5533   

Export aliases for ALG2 gene to outside databases

Previous GC identifers: GC09M095436 GC09M097359 GC09M097358 GC09M099058 GC09M101018 GC09M071577


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALG2 Gene:
This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3
mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate
to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder
of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. (provided by
RefSeq, Nov 2008)

GeneCards Summary for ALG2 Gene:
ALG2 (ALG2, alpha-1,3/1,6-mannosyltransferase) is a protein-coding gene. Diseases associated with ALG2 include congenital disorder of glycosylation type ii, and congenital myasthenic syndrome with tubular aggregates 2. GO annotations related to this gene include calcium-dependent protein binding and protein heterodimerization activity.

UniProtKB/Swiss-Prot: ALG2_HUMAN, Q9H553
Function: Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form
Man(3)GlcNAc(2)-dolichol diphosphate

Gene Wiki entry for ALG2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALG2 gene promoter:
         GR   E2F-4   E2F-3a   E2F-5   E2F-2   E2F   E2F-1   Cart-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG2 promoter sequence
   Search Chromatin IP Primers for ALG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALG2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22.33   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q31.1

ALG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M101978:  view genomic region     (about GC identifiers)

Start:
101,978,707 bp from pter      End:
101,984,246 bp from pter
Size:
5,540 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ALG2_HUMAN, Q9H553 (See protein sequence)
Recommended Name: Alpha-1,3/1,6-mannosyltransferase ALG2  
Size: 416 amino acids; 47092 Da
Secondary accessions: A2A2Y0 Q8NBX2 Q8NC39
Alternative splicing: 2 isoforms:  Q9H553-1   Q9H553-2   

Explore the universe of human proteins at neXtProt for ALG2: NX_Q9H553

Explore proteomics data for ALG2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys48
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for ALG2 (Q9H553)
     FYCHFPD  GGAERLV  LSINRYERKK  EHFGIVPLEAM 


    See ALG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_149078.1  
    ENSEMBL proteins: 
     ENSP00000432675   ENSP00000417764   ENSP00000326609  
    Reactome Protein details: Q9H553

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GLT1: Glycosyltransferase group 1 domain containing

    2 InterPro protein domains:
     IPR027054 ALG2
     IPR001296 Glyco_trans_1

    Graphical View of Domain Structure for InterPro Entry Q9H553

    ProtoNet protein and cluster: Q9H553

    1 Blocks protein domain: IPB001296 Glycosyl transferase

    UniProtKB/Swiss-Prot: ALG2_HUMAN, Q9H553
    Similarity: Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily


    Find genes that share domains with ALG2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALG2_HUMAN, Q9H553
    Function: Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form
    Man(3)GlcNAc(2)-dolichol diphosphate
    Catalytic activity: GDP-D-mannose + D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = GDP +
    D-Man-alpha-(1->3)-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-GlcNAc-diphosphodolichol
    Catalytic activity: GDP-D-mannose +
    D-Man-alpha-(1->3)-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = GDP +
    D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol

         Enzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.1321 EC 2.4.1.2571

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000033alpha-1,3-mannosyltransferase activity IDA12684507
    GO:0004378GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity IEA--
    GO:0005515protein binding IPI11883939
    GO:0033164glycolipid 6-alpha-mannosyltransferase activity ----
    GO:0043495protein anchor IMP16957052
         
    Find genes that share ontologies with ALG2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ALG2:
     Synthetic lethal with Ras 

         1 MGI phenotypic allele for Alg2 (no phenotypes)

    Find genes that share phenotypes with ALG2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Alg2tm1Lex for ALG2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALG2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALG2

    miRNA
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    miRTarBase miRNAs that target ALG2:
    hsa-mir-16-5p (MIRT031868), hsa-mir-103a-3p (MIRT027167), hsa-mir-1 (MIRT023983), hsa-mir-124-3p (MIRT023051), hsa-mir-19b-3p (MIRT031276)

    Block miRNA regulation of human, mouse, rat ALG2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ALG2 (see all 13):
    hsa-miR-3910 hsa-miR-607 hsa-miR-548o hsa-miR-548aa hsa-miR-3142 hsa-miR-124 hsa-miR-19b hsa-miR-1323
    SwitchGear 3'UTR luciferase reporter plasmidALG2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ALG2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ALG2_HUMAN, Q9H553: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    endoplasmic reticulum4
    cytoskeleton1
    cytosol1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11278427
    GO:0005737cytoplasm IDA11278427
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane IDA16996505
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with ALG2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ALG2 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    N-Glycan biosynthesis0.49
    Metabolism of proteins0.30
    Post-translational protein modification0.43
    2Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with ALG2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ALG2
        Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


    2 Kegg Pathways  (Kegg details for ALG2):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: ALG2_HUMAN, Q9H553
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALG2
    Interactions:

        Search GeneGlobe Interaction Network for ALG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALG2 (Q9H5533 ENSP000004177644) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANXA11P509953, ENSP000002654474I2D: score=2 STRING: ENSP00000265447
    ANXA7P200733, ENSP000003620104I2D: score=1 STRING: ENSP00000362010
    SRIP306263, ENSP000002657294I2D: score=1 STRING: ENSP00000265729
    PEF1Q9UBV83, ENSP000003628074I2D: score=1 STRING: ENSP00000362807
    GMPPBQ9Y5P63, ENSP000003090924I2D: score=1 STRING: ENSP00000309092
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0009058biosynthetic process ----
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0033577protein glycosylation in endoplasmic reticulum IGI12684507
    GO:0043687post-translational protein modification TAS--

    Find genes that share ontologies with ALG2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALG2

    3 HMDB Compounds for ALG2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dolichol-20Dolichol (C100) (see all 5)2067-66-5--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine diphosphate mannoseGDP mannose (see all 7)3123-67-9--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALG2 gene (2 alternative transcripts): 
    NM_033087.3  NM_197973.2  

    Unigene Cluster for ALG2:

    ALG2, alpha-1,3/1,6-mannosyltransferase
    Hs.40919  [show with all ESTs]
    Unigene Representative Sequence: NR_024532
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000238477(uc004azg.3 uc004azf.3) ENST00000476832 ENST00000319033

    miRNA
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    hsa-miR-3910 hsa-miR-607 hsa-miR-548o hsa-miR-548aa hsa-miR-3142 hsa-miR-124 hsa-miR-19b hsa-miR-1323
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    Additional mRNA sequence: 

    AB161356.1 AK027417.1 AK074704.1 AK075172.1 AK075189.1 AY358697.1 BC015126.1 BC017876.1 
    NR_024532.1 

    10 DOTS entries:

    DT.100026389  DT.443496  DT.101975871  DT.99961425  DT.121209348  DT.95376062  DT.97840885  DT.121209371 
    DT.121209384  DT.95376063 

    Selected AceView cDNA sequences (see all 201):

    BF435010 CA950433 AA934569 CN479455 AA769683 BG655747 AA515396 AA426161 
    AV654494 BG617202 D62871 CD370007 BG054806 AI366820 AI769222 CB305652 
    BP342204 AI913655 CA950203 AW173784 BM854270 AA419564 BX280093 AI696801 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ALG2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c
    SP1:              -                           
    SP2:                                          
    SP3:              -     -                     


    ECgene alternative splicing isoforms for ALG2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ALG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCAGCAGAG
    ALG2 Expression
    About this image


    ALG2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    ALG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.40919
        Custom PCR Arrays for ALG2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALG2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALG2 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alg21 , 5 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)5
    asparagine-linked glycosylation 2 (alpha-1,3-mannosyltransferase)1
    82.49(n)1
    80.72(a)1
      4 (26.03 cM)5
    567371  NM_019998.31  NP_064382.31 
     474650675 
    chicken
    (Gallus gallus)
    Aves ALG21 asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase more 70.86(n)
    72.19(a)
      420998  XM_003640790.2  XP_003640838.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALG26
    ALG2, alpha-1,3/1,6-mannosyltransferase
    66(a)
    1 ↔ 1
    6(55626830-55631389)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia alg21 ALG2, alpha-1,3/1,6-mannosyltransferase 66.58(n)
    68.42(a)
      595052  NM_001030489.1  NP_001025660.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.186202 Danio rerio, Similar to hypothetical protein FLJ14511, more 75.19(n)    BC049444.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG12911 CG1291 55.78(n)
    53.42(a)
      38374  NM_139515.5  NP_647772.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F09E5.21 F09E5.2 51.31(n)
    48.09(a)
      173912  NM_062609.5  NP_495010.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG21 ALG2 49.28(n)
    43.73(a)
      852815   NP_011450.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G788001 AT1G78800 51.91(n)
    50.38(a)
      844216  NM_106527.3  NP_178001.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g05896001 Os04g0589600 52.49(n)
    50.13(a)
      4336813  NM_001060234.1  NP_001053699.1 


    ENSEMBL Gene Tree for ALG2 (if available)
    TreeFam Gene Tree for ALG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for ALG2 (see all 231)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1887464341,2
    --101992280(+) TCTACC/TTTCCC 2 -- ds50010--------
    rs1489642141,2
    --101992389(+) TCATGA/GCAGGC 2 -- ds50010--------
    rs1436997901,2
    --101992445(+) TCCGGC/GTTAGG 2 -- ds50010--------
    rs1815377061,2
    --101992602(+) CTGTGC/TTAAAC 2 -- ds50010--------
    rs1168810681,2
    F--101992667(+) TGAACC/TAAATC 2 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1382926221,2
    --101992668(+) GAACCA/TAATCA 2 -- ds50010--------
    rs1399435341,2
    C--101992755(+) GACTC-/AATATATT 2 -- cds1 nc-transcript-variant0--------
    rs1876704711,2
    --101992843(+) ATGATA/GAACTG 2 -- ut31 nc-transcript-variant0--------
    rs1903097281,2
    --101992872(+) ATTGAA/TGAGCC 2 -- ut31 nc-transcript-variant0--------
    rs1810373131,2
    --101992902(+) GTGCAA/GCATGA 2 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for ALG2 (101978707 - 101984246 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ALG2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831666CNV Gain17160897

    Human Gene Mutation Database (HGMD): ALG2
    Locus Specific Mutation Databases (LSDB): ALG2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALG2
    DNA2.0 Custom Variant and Variant Library Synthesis for ALG2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607905   
    OMIM disorders: 607906  
    UniProtKB/Swiss-Prot: ALG2_HUMAN, Q9H553
  • Congenital disorder of glycosylation 1I (CDG1I) [MIM:607906]: A multisystem disorder caused by a defect
    in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of
    glycosylation result in a wide variety of clinical features, such as defects in the nervous system development,
    psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad
    spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation,
    and maintenance of cell functions. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 2 diseases for ALG2:    
    About MalaCards
    congenital disorder of glycosylation type ii    congenital myasthenic syndrome with tubular aggregates 2

    1 disease from the University of Copenhagen DISEASES database for ALG2:
    Coloboma

    Find genes that share disorders with ALG2           About GenesLikeMe

    GeneTests: ALG2
    GeneReviews: ALG2

    Export disorders for ALG2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ALG2 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with ALG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. (PubMed id 12684507)1, 2, 3 Thiel C.... Koerner C. (J. Biol. Chem. 2003)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    6. The apoptosis linked gene ALG-2 is dysregulated in tumors of various origin and contributes to cancer cell viability. (PubMed id 19383317)1, 9 la Cour J.M....Berchtold M.W. (Mol Oncol 2008)
    7. Genetics of callous-unemotional behavior in children. (PubMed id 23874384)1 Viding E....Plomin R. (PLoS ONE 2013)
    8. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. (PubMed id 23404334)1 Cossins J....Beeson D. (Brain 2013)
    9. Identification of the P-body component PATL1 as a novel ALG-2-interacting protein by in silico and far-Western screening of proline-rich proteins. (PubMed id 22437941)1 Osugi K....Maki M. (J. Biochem. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 85365 HGNC: 23159 AceView: ALG2 Ensembl:ENSG00000119523 euGenes: HUgn85365
    ECgene: ALG2 Kegg: 85365 H-InvDB: ALG2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALG2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALG2[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALG2 gene:
    Search GeneIP for patents involving ALG2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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