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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALG2 Gene

protein-coding   GIFtS: 60
GCID: GC09M101978

ALG2, alpha-1,3/1,6-mannosyltransferase

(Previous names: asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase),...)
 Explore 6 diseases affiliated with
ALG2 via our new
 Human Malady Compendium 
Biological research products
for ALG2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
ALG2, Alpha-1,3/1,6-Mannosyltransferase1 2     Asparagine-Linked Glycosylation 2, Alpha-1,3-Mannosyltransferase Homolog (S.
Cerevisiae)1
CDGIi1 2     Alpha-1,3-Mannosyltransferase ALG22
NET381 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
HALPG21     Asparagine-Linked Glycosylation 2, Alpha-1,3-Mannosyltransferase Homolog2
Asparagine-Linked Glycosylation Protein 2 Homolog2 3     Homolog Of Yeast ALG22
GDP-Man:Man(1)GlcNAc(2)-PP-Dol Alpha-1,3-Mannosyltransferase2 3     EC 2.4.1.1323
GDP-Man:Man(1)GlcNAc(2)-PP-Dolichol Mannosyltransferase2 3     EC 2.4.1.2573
GDP-Man:Man(2)GlcNAc(2)-PP-Dol Alpha-1,6-Mannosyltransferase2 3     CDGII5
FLJ145111     EC 2.4.18

External Ids:    HGNC: 231591   Entrez Gene: 853652   Ensembl: ENSG000001195237   OMIM: 6079055   UniProtKB: Q9H5533   
ORGUL members:         
NONCODE:n407036    

Export aliases for ALG2 gene to outside databases

Previous GC identifers: GC09M095436 GC09M097359 GC09M097358 GC09M099058 GC09M101018 GC09M071577


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ALG2:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ALG2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ALG2_HUMAN, Q9H553 (See protein sequence)
Recommended Name: Alpha-1,3/1,6-mannosyltransferase ALG2  
Size: 416 amino acids; 47092 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H553

  • 4 DME Specific Peptides for ALG2 (Q9H553)
     FYCHFPD  GGAERLV  LSINRYERKK  EHFGIVPLEAM 

    ALG2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_149078.1  
    ENSEMBL proteins: 
     ENSP00000432675   ENSP00000417764   ENSP00000326609  
    Reactome Protein details: Q9H553
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    Uscn Proteins for ALG2

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005634nucleus IDA17196169
    GO:0005737cytoplasm IDA17196169
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--


    ALG2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ALG2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR027054 ALG2
     IPR001296 Glyco_trans_1

    Graphical View of Domain Structure for InterPro Entry Q9H553

    ProtoNet protein and cluster: Q9H553

    1 Blocks protein family: IPB001296 Glycosyl transferase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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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
    SwitchGear 3'UTR luciferase reporter plasmidALG2 3' UTR sequence
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    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:0043495protein anchor IMP16957052
    GO:0046982protein heterodimerization activity IPI11278427


    ALG2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ALG2:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Alg2tm1Lex for ALG2
         1 MGI phenotypic allele for Alg2 (no phenotypes)

    ALG2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation1.00
    Post-translational protein modification0.44
    N-Glycan biosynthesis0.52
    Metabolism of proteins0.15
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein1.00
    3Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for ALG2
        Asparagine N-linked glycosylation
    Metabolism of proteins
    Post-translational protein modification
    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


    ALG2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/27 Interacting proteins for ALG2 (Q9H5533 ENSP000004177644) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0033577protein glycosylation in endoplasmic reticulum IGI12684507
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--


    ALG2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    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--
    Search CenterWatch for drugs/clinical trials and news about ALG2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ALG2 gene (2 alternative transcripts): 
    NM_033087.3  NM_197973.2  

    Unigene Cluster for ALG2:

    Asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)
    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


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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 cDNA 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 

    24/201 AceView cDNA sequences (see all 201):

    BG617202 AI913655 NM_197973 AI863884 AI696801 AI739663 AI299594 BX280093 
    AI374867 BG054806 CN479455 CK903766 CD368005 BQ641538 AI222699 CA950203 
    BM982936 AI686368 AA426161 BG697908 BM687809 CF132606 AI769222 BF435010 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCAGCAGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ALG2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALG2

    SOURCE GeneReport for Unigene cluster: Hs.40919
        SABiosciences Custom PCR Arrays for ALG2
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALG2 gene from 9/31 species (see all 31)    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_003640790.1  XP_003640838.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALG26
    --
    66(a)
    1 ↔ 1
    6(55626830-55631389)
    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 55.86(n)
    53.42(a)
      38374  NM_139515.4  NP_647772.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F09E5.21 Protein F09E5.2 51.4(n)
    48.09(a)
      173912  NM_062609.4  NP_495010.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG21 Alg2p 49.1(n)
    43.99(a)
      852815   NP_011450.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G788001 alpha-1,3/alpha-1,6-mannosyltransferase 51.82(n)
    50.38(a)
      844216  NM_106527.3  NP_178001.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g05896001 hypothetical protein 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
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/73 NCBI SNPs in ALG2 are shown (see all 73    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs132830301,2
    H--71578623(+) CATGGA/TATGAC 2 -- ut31 nc-transcript-variant4Minor allele frequency- T:0.00NS EA 416
    rs412746461,2
    --71579878(+) GGCAAT/CGTCTG 2 -- int13Minor allele frequency- C:0.07NA 124
    rs793720861,2
    F,--71580590(+) ATTACT/CACAGA 2 -- int12Minor allele frequency- C:0.04NA EA 240
    rs758773061,2
    --71580945(+) CAAAGT/ATTAAA 2 -- int13Minor allele frequency- A:0.06CSA WA NA 240
    rs1887464341,2
    --101978269(+) TCTACC/TTTCCC 2 -- ds50010--------
    rs1489642141,2
    --101978378(+) TCATGA/GCAGGC 2 -- ds50010--------
    rs1436997901,2
    --101978434(+) TCCGGC/GTTAGG 2 -- ds50010--------
    rs1815377061,2
    --101978591(+) CTGTGC/TTAAAC 2 -- ds50010--------
    rs1168810681,2
    --101978656(+) TGAACC/TAAATC 2 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1382926221,2
    --101978657(+) GAACCA/TAATCA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for ALG2 (101978707 - 101984246 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ALG2: --
    Human Gene Mutation Database (HGMD): ALG2

    Locus Specific Mutation Databases (LSDB): ALG2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    ALG2 for disorders           About GeneDecksing

    OMIM gene information: 607905   
    OMIM disorders: 607906  
    UniProtKB/Swiss-Prot: ALG2_HUMAN, Q9H553
  • Defects in ALG2 are the cause of congenital disorder of glycosylation type 1I (CDG1I) [MIM:607906]. CDGs are a
  • family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by
    under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such
    as disorders of 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

    6 diseases for ALG2:    About MalaCards
    congenital disorder of glycosylation    congenital disorder of glycosylation type ii    congenital disorder of glycosylation type 1i    cutis laxa
    coloboma    hypotonia

    2 diseases from the University of Copenhagen DISEASES database for ALG2:
    Congenital myasthenic syndrome     Coloboma
    GeneTests: ALG2
    Congenital Disorders of Glycosylation


    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)
    About This Section

    PubMed articles for ALG2 gene, integrated from 9 sources (see all 39):
    (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. (2003)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (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. (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. (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. (2008)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Molecular basis for defect in Alix-binding by alterna tively spliced isoform of ALG-2 (ALG-2DeltaGF122) and structural roles of F122 in target recognition. (PubMed id 20691033)1 Inuzuka T....Maki M. (2010)
    10. Simultaneous targeting of Requiem & Alg-2 in Chin ese hamster ovary cells for improved recombinant protein production. (PubMed id 20571937)1 Lim Y....Wong D.C. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 85365 HGNC: 23159 AceView: ALG2 Ensembl:ENSG00000119523 euGenes: HUgn85365
    ECgene: ALG2 Kegg: 85365 H-InvDB: ALG2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ALG2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG2
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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