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

ALG9 Gene

protein-coding   GIFtS: 59
GCID: GC11M111652

ALG9, Alpha-1,2-Mannosyltransferase

(Previous names: disrupted in bipolar affective disorder 1, asparagine-linked...)
(Previous symbol: DIBD1)
  See 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)
About This Section

Aliases
ALG9, Alpha-1,2-Mannosyltransferase1 2     Dolichyl-P-Man:Man(6)GlcNAc(2)-PP-Dolichol Alpha-11
DIBD11 2 3 5     Dolichyl-P-Man:Man(8)GlcNAc(2)-PP-Dolichol Alpha-11
Disrupted In Bipolar Affective Disorder 11 2     LOH11CR1J2
Asparagine-Linked Glycosylation Protein 9 Homolog2 3     Alpha-1,2-Mannosyltransferase ALG92
Disrupted In Bipolar Disorder Protein 12 3     Asparagine-Linked Glycosylation 9 Homolog (S. Cerevisiae, Alpha-
1,2-Mannosyltransferase)2
Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase2 3     Asparagine-Linked Glycosylation 9 Homolog (Yeast, Alpha-
1,2-Mannosyltransferase)2
Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase2 3     Asparagine-Linked Glycosylation 9, Alpha-1,2-Mannosyltransferase Homolog2
CDG1L2 5     Dol-P-Man Dependent Alpha-1,2-Mannosyltransferase2
2-mannosyltransferase1     Dolichyl-P-Man:Man(6)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase2
Asparagine-Linked Glycosylation 9 Homolog (Yeast, Alpha 1,2
Mannosyltransferase)1
     Dolichyl-P-Man:Man(8)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase2
Asparagine-Linked Glycosylation 9, Alpha- 1,2-Mannosyltransferase Homolog
(S. Cerevisiae, Alpha- 1,2-Mannosyltransferase)1
     Loss Of Heterozygosity, 11, Chromosomal Region 1 Gene J Product2
Asparagine-Linked Glycosylation 9, Alpha-1,2-Mannosyltransferase Homolog
(S. Cerevisiae)1
     EC 2.4.1.2593
Dol-P-Man Dependent Alpha-11     EC 2.4.1.2613

External Ids:    HGNC: 156721   Entrez Gene: 797962   Ensembl: ENSG000000868487   OMIM: 6069415   UniProtKB: Q9H6U83   

Export aliases for ALG9 gene to outside databases

Previous GC identifer: GC11M111162


(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 ALG9 Gene:
This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly.
Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Dec 2008)

GeneCards Summary for ALG9 Gene: 
ALG9 (ALG9, alpha-1,2-mannosyltransferase) is a protein-coding gene. Diseases associated with ALG9 include congenital disorder of glycosylation, type il, and bipolar disorder, and among its related super-pathways are WNT ligand biogenesis and trafficking and Signaling by GPCR. GO annotations related to this gene include dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity and dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity.

UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8
Function: Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides

Gene Wiki entry for ALG9 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALG9 gene promoter:
         POU2F1   Nkx2-2   POU2F1a   Nkx2-5   Gfi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG9 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALG9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALG9


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

Entrez Gene cytogenetic band: 11q23   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q23

ALG9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG9 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M111652:  view genomic region     (about GC identifiers)

Start:
111,652,919 bp from pter      End:
111,742,305 bp from pter
Size:
89,387 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8 (See protein sequence)
Recommended Name: Alpha-1,2-mannosyltransferase ALG9  
Size: 611 amino acids; 69863 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
Secondary accessions: Q6ZMD5 Q7Z4R4 Q96GS7 Q96PB9 Q9H068
Alternative splicing: 4 isoforms:  Q9H6U8-1   Q9H6U8-2   Q9H6U8-3   Q9H6U8-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALG9: NX_Q9H6U8

Explore proteomics data for ALG9 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H6U8

  • ALG9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALG9 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001071158.1  NP_001071159.1  NP_001071160.1  NP_079016.2  

    ENSEMBL proteins: 
     ENSP00000432442   ENSP00000436798   ENSP00000435517   ENSP00000381090   ENSP00000437211  
    Reactome Protein details: Q9H6U8
    Human Recombinant Protein Products for ALG9: 
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    Cloud-Clone Corp. Proteins for ALG9 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0031227intrinsic to endoplasmic reticulum membrane ----

    ALG9 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    DOLPM: Dolichyl D-mannosyl phosphate dependent mannosyltransferases

    1 InterPro protein domain:
     IPR005599 GPI_mannosylTrfase

    Graphical View of Domain Structure for InterPro Entry Q9H6U8

    ProtoNet protein and cluster: Q9H6U8

    UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8
    Similarity: Belongs to the glycosyltransferase 22 family


    ALG9 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALG9_HUMAN, Q9H6U8
    Function: Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides
    Catalytic activity: Dolichyl beta-D-mannosyl phosphate +
    D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
    =
    D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
    + dolichyl phosphate
    Catalytic activity: Dolichyl beta-D-mannosyl phosphate +
    D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
    =
    D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
    + dolichyl phosphate

         Enzyme Numbers (IUBMB): EC 2.4.1.2591 EC 2.4.1.2611

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0052918dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IEA--
    GO:0052926dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IEA--
         
    ALG9 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidALG9 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ALG9 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    N-Glycan biosynthesis0.52
    WNT ligand biogenesis and trafficking0.77
    Post-translational protein modification0.44
    Signaling by Wnt0.62
    Metabolism of proteins0.35
    2Signaling by GPCR
    Signal Transduction0.55
    3Biosynthesis 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 protein0.53
    4Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/7        Reactome Pathways for ALG9 (see all 7)
        Signaling by Wnt
    Asparagine N-linked glycosylation
    Signal Transduction
    Metabolism of proteins
    Post-translational protein modification


    2         Kegg Pathways  (Kegg details for ALG9):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8
    Pathway: Protein modification; protein glycosylation


    ALG9 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALG9

    5/71 Interacting proteins for ALG9 (Q9H6U83) via UniProtKB, MINT, STRING, and/or I2D (see all 71)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096150P622693I2D: score=1 
    ENSG00000223367P622693I2D: score=1 
    ENSG00000226225P622693I2D: score=1 
    ENSG00000235650P622693I2D: score=1 
    RPS18P622693I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0006506GPI anchor biosynthetic process ----
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    ALG9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALG9

    Search CenterWatch for drugs/clinical trials and news about ALG9

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ALG9 gene (4 alternative transcripts): 
    NM_001077690.1  NM_001077691.1  NM_001077692.1  NM_024740.2  

    Unigene Cluster for ALG9:

    ALG9, alpha-1,2-mannosyltransferase
    Hs.745155  [show with all ESTs]
    Unigene Representative Sequence: NM_001077691
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532425(uc001ply.3 uc001plz.3 uc021qql.1 uc021qqm.1 uc010rwn.2 uc010rwo.2)
    ENST00000527212 ENST00000524457 ENST00000526272 ENST00000532374 ENST00000524671
    ENST00000531154 ENST00000398006 ENST00000527228(uc009yyh.1) ENST00000525910
    ENST00000530851 ENST00000527883 ENST00000527294 ENST00000527714 ENST00000524386
    ENST00000529754 ENST00000530723
    miRNA
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    Additional mRNA sequence: 

    AB096249.1 AF395532.1 AF454937.1 AK025214.1 AK025498.1 AK172828.1 AK225261.1 AK298811.1 
    AL136927.1 BC009255.2 

    15 DOTS entries:

    DT.100786164  DT.100786162  DT.207051  DT.92426228  DT.92426229  DT.99997332  DT.120750615  DT.75101345 
    DT.95169459  DT.92426224  DT.120750587  DT.120750616  DT.120750687  DT.120750695  DT.95169455 

    24/921 AceView cDNA sequences (see all 921):

    BU735319 BF726331 BF727452 BI964006 BQ682868 BM705674 AJ707736 BM696919 
    BM696269 BF726448 BM697112 BM703353 BF724107 W16982 F30798 BF726658 
    BF726634 AI493176 AK172828 BM696781 AI347612 BF726883 AA112037 BF726433 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ALG9 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
    SP1:                                                                                                  -                                                         
    SP2:                    -     -     -                       -           -                                                                                       
    SP3:                    -     -     -                                                                                                                           
    SP4:                    -     -     -                                                                                                                           
    SP5:                                                                                                                                                            

    ExUns: 17a · 17b · 17c ^ 18 ^ 19a · 19b · 19c ^ 20
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for ALG9

    (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

    ALG9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCAAATGA
    ALG9 Expression
    About this image


    See ALG9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALG9

    SOURCE GeneReport for Unigene cluster: Hs.745155

    UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8
    Tissue specificity: Ubiquitously expressed; with highest levels in heart, liver and pancreas

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    (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 ALG9 gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alg91 , 5 asparagine-linked glycosylation 9 homolog (yeast, alpha more5
    asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase)1
    87.77(n)1
    94.41(a)1
      9 (27.75 cM)5
    1025801  NM_133981.21  NP_598742.11 
     507750195 
    chicken
    (Gallus gallus)
    Aves ALG91 asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase more 75.89(n)
    82.82(a)
      428255  XM_425814.3  XP_425814.3 
    lizard
    (Anolis carolinensis)
    Reptilia ALG96
    Uncharacterized protein
    44(a)
    1 ↔ 1
    GL343521.1(41906-75835)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc638202 hypothetical protein MGC63820 72.05(n)   393598  BC056834.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG118511 CG11851 52.07(n)
    45.8(a)
      43031  NM_143096.3  NP_651353.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C14A4.31 Protein C14A4.3 50.43(n)
    42.01(a)
      174633  NM_063881.3  NP_496282.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG91 Alg9p 49.25(n)
    38.38(a)
      855502   NP_014180.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G169001 alpha-1,2-mannosyltransferase 46.26(n)
    36.06(a)
      838261  NM_101551.3  NP_173134.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g02090001 hypothetical protein 46.38(n)
    38.4(a)
      4325533  NM_001048895.1  NP_001042360.1 


    ENSEMBL Gene Tree for ALG9 (if available)
    TreeFam Gene Tree for ALG9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALG9 gene
    1 SIMAP similar gene for ALG9 using alignment to 5 protein entries:     ALG9_HUMAN (see all proteins):
    FDXACB1

    ALG9 for paralogs           About GeneDecksing



    (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) 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

    10/1691 SNPs in ALG9 are shown (see all 1691)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0234104
    Congenital disorder of glycosylation 1L (CDG1L)4--see VAR_0234102 Y C mis40--------
    VAR_0234134
    Congenital disorder of glycosylation 1L (CDG1L)4--see VAR_0234132 E K mis40--------
    VAR_0234124
    ----see VAR_0234122 P L mis40--------
    rs6004081,2
    C--107598111(-) ttgttC/Tttttt 4 -- int1 trp30--------
    rs348793241,2
    C--107666463(+) AAAAAA/-AAAAC 4 -- us2k12Minor allele frequency- -:0.25NA 4
    rs1903597561,2
    --111516031(+) CCCATA/GTATTA 4 -- ds50010--------
    rs1837152161,2
    --111516052(+) TGCGTC/GGTTTT 4 -- ds50010--------
    rs1878005191,2
    --111516185(+) CTGGAA/GTCAGG 4 -- ds50010--------
    rs799004131,2
    C,F--111516514(+) TCCAAC/TGATGC 4 -- ut313Minor allele frequency- T:0.06CSA WA 122
    rs1386372131,2
    --111516623(+) TGCACG/TGATTA 4 -- ut310--------

    HapMap Linkage Disequilibrium report for ALG9 (111652919 - 111742305 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ALG9:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv492CNV Insertion18451855
    nsv832269CNV Loss17160897


    Human Gene Mutation Database (HGMD): ALG9

    Locus Specific Mutation Databases (LSDB): ALG9
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606941   
    OMIM disorders: 608776  
    UniProtKB/Swiss-Prot: ALG9_HUMAN, Q9H6U8
  • Note=A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder.
    Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to
    bipolar affective disorder
  • Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776]: 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

  • 8 diseases for ALG9:    About MalaCards
    congenital disorder of glycosylation, type il    bipolar disorder    congenital disorder of glycosylation type 1l    pericardial effusion
    esotropia    congenital disorder of glycosylation    bipolar i disorder    hypotonia

    1 disease from the University of Copenhagen DISEASES database for ALG9:
    Major depressive disorder

    ALG9 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for ALG9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital disorders 83 1 16859551 (1)
    hepatomegaly 61.9 2 15148656 (1), 16859551 (1)
    developmental delay 59.8 2 15148656 (1), 16859551 (1)
    bipolar disorder 49.2 4 16859551 (3)

    GeneTests: ALG9
    GeneReviews: ALG9
    Genetic Association Database (GAD): ALG9
    Human Genome Epidemiology (HuGE) Navigator: ALG9 (1 document)

    Export disorders for ALG9 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 ALG9 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with ALG9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Common variations in ALG9 are not associated with bipolar I disorder: a family-based study. (PubMed id 16859551)1, 2, 4, 9 Baysal B.E....Nimgaonkar V.L. (2006)
    2. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. (PubMed id 15148656)1, 2, 3, 9 Frank C.G....Hennet T. (2004)
    3. A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family. (PubMed id 12030331)1, 2, 3, 9 Baysal B.E.... Detera-Wadleigh S.D. (2002)
    4. CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. (PubMed id 15945070)1, 2, 9 Weinstein M.... Poplawski N. (2005)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    8. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)

    (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: 79796 HGNC: 15672 AceView: ALG9 Ensembl:ENSG00000086848 euGenes: HUgn79796
    ECgene: ALG9 Kegg: 79796 H-InvDB: ALG9

    (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 ALG9 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG9
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG9

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ALG9 gene:
    Search GeneIP for patents involving ALG9

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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