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

ALG12 Gene

protein-coding   GIFtS: 55
GCID: GC22M050296

ALG12, Alpha-1,6-Mannosyltransferase

(Previous names: asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase),...)
  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
ALG12, Alpha-1,6-Mannosyltransferase1 2     ECM392
Asparagine-Linked Glycosylation 12 Homolog (Yeast,
Alpha-1,6-Mannosyltransferase)1 2
     PP146732
Asparagine-Linked Glycosylation Protein 12 Homolog2 3     Asparagine-Linked Glycosylation 12 Homolog (S. Cerevisiae,
Alpha-1,6-Mannosyltransferase)2
Mannosyltransferase ALG12 Homolog2 3     Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog2
Membrane Protein SB872 3     Dol-P-Man Dependent Alpha-1,6-Mannosyltransferase2
hALG122 3     Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol Alpha-1,6-Mannosyltransferase2
CDG1G2 5     dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase2
6-mannosyltransferase1     dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase2
Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog
(S. Cerevisiae)1
     Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichol Alpha-1,6-Mannosyltransferase2
Dol-P-Man Dependent Alpha-11     Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase3
Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichol Alpha-11     EC 2.4.1.2603

External Ids:    HGNC: 193581   Entrez Gene: 790872   Ensembl: ENSG000001828587   OMIM: 6071445   UniProtKB: Q9BV103   

Export aliases for ALG12 gene to outside databases

Previous GC identifers: GC00U990901 GC22M048516 GC22M048617 GC22M048682 GC22M033243


(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 ALG12 Gene:
This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the
eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor
(dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated
with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. (provided by
RefSeq, Jul 2008)

GeneCards Summary for ALG12 Gene: 
ALG12 (ALG12, alpha-1,6-mannosyltransferase) is a protein-coding gene. Diseases associated with ALG12 include congenital disorder of glycosylation type 1g, and congenital disorder of glycosylation, and among its related super-pathways are WNT ligand biogenesis and trafficking and Signaling by GPCR. GO annotations related to this gene include alpha-1,6-mannosyltransferase activity and dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity.

UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
Function: Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor
(dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation

Gene Wiki entry for ALG12 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_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALG12 gene promoter:
         COUP-TF1   Elk-1   COUP   Pax-2   HNF-4alpha2   Pax-2a   HNF-4alpha1   COUP-TF   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALG12 promoter sequence
   Search SABiosciences Chromatin IP Primers for ALG12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALG12


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

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

ALG12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALG12 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M050296:  view genomic region     (about GC identifiers)

Start:
50,296,852 bp from pter      End:
50,312,106 bp from pter
Size:
15,255 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: ALG12_HUMAN, Q9BV10 (See protein sequence)
Recommended Name: Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase  
Size: 488 amino acids; 54655 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
Sequence caution: Sequence=AAM94900.1; Type=Frameshift; Positions=468;
Secondary accessions: A6PWM1 Q4KMH4 Q8NG10 Q96AA4

Explore the universe of human proteins at neXtProt for ALG12: NX_Q9BV10

Explore proteomics data for ALG12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BV10

  • ALG12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALG12 Protein Expression
    REFSEQ proteins: NP_077010.1  
    ENSEMBL proteins: 
     ENSP00000333813   ENSP00000420630   ENSP00000417387  
    Reactome Protein details: Q9BV10
    Human Recombinant Protein Products for ALG12: 
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    Cloud-Clone Corp. Proteins for ALG12 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum NAS12217961
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0031227intrinsic to endoplasmic reticulum membrane ----

    ALG12 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 Q9BV10

    ProtoNet protein and cluster: Q9BV10

    UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
    Similarity: Belongs to the glycosyltransferase 22 family


    ALG12 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: ALG12_HUMAN, Q9BV10
    Function: Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor
    (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation
    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-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-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
    + dolichyl phosphate

         Enzyme Number (IUBMB): EC 2.4.1.2601

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000009alpha-1,6-mannosyltransferase activity IC12217961
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0052917dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity IEA--
         
    ALG12 for ontologies           About GeneDecksing


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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 ALG12 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 ALG12 (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 ALG12):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
    Pathway: Protein modification; protein glycosylation


    ALG12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALG12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/42 Interacting proteins for ALG12 (Q9BV103 ENSP000003338134) via UniProtKB, MINT, STRING, and/or I2D (see all 42)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALG3Q926853, ENSP000003807934I2D: score=1 STRING: ENSP00000380793
    ALG5Q9Y6733, ENSP000002398914I2D: score=1 STRING: ENSP00000239891
    ALG8Q9BVK23, ENSP000002996264I2D: score=1 STRING: ENSP00000299626
    DDOSTP396563, ENSP000003641884I2D: score=1 STRING: ENSP00000364188
    ENSG00000258947Q135093I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding NAS12217961
    GO:0006487protein N-linked glycosylation IGI12217961
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0006506GPI anchor biosynthetic process ----
    GO:0018279protein N-linked glycosylation via asparagine TAS--

    ALG12 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 ALG12

    Search CenterWatch for drugs/clinical trials and news about ALG12

    (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,
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    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 ALG12 gene: 
    NM_024105.3  

    Unigene Cluster for ALG12:

    ALG12, alpha-1,6-mannosyltransferase
    Hs.526711  [show with all ESTs]
    Unigene Representative Sequence: NM_024105
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330817(uc003biy.3) ENST00000486602 ENST00000492791
    miRNA
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    Additional mRNA sequence: 

    AF258571.1 AF318343.1 AJ290427.1 AJ303120.1 AK126604.1 BC001729.1 BC098562.1 CR456369.1 

    8 DOTS entries:

    DT.100670712  DT.314951  DT.101983752  DT.120662638  DT.100760172  DT.91709637  DT.91809500  DT.97769394 

    24/159 AceView cDNA sequences (see all 159):

    AA974371 AF318343 CD107199 BM924620 BX380067 CR456369 AJ303120 Z40385 
    BI029257 CF132333 NM_024105 AI378237 F36112 BC001729 AF258571 BI766537 
    BX354635 BI763987 BM980308 BI517535 BU688514 BM983607 AI598139 AJ290427 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ALG12 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10
    SP1:                                                                    -                           
    SP2:                                                                                                
    SP3:                                                                                                
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for ALG12

    (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

    ALG12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGCCCCGG
    ALG12 Expression
    About this image


    See ALG12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALG12

    SOURCE GeneReport for Unigene cluster: Hs.526711

    UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
    Tissue specificity: Expressed in fibroblasts

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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 ALG12 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alg121 , 5 asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase) less5
    asparagine-linked glycosylation 12 (alpha-1,6-mannosyltransferase) less1
    79.93(n)1
    79.59(a)1
      15 (44.30 cM)5
    2237741  NM_001142357.11  NP_001135829.11 
     888052445 
    chicken
    (Gallus gallus)
    Aves ALG121 asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) less 64.72(n)
    68.62(a)
      417733  NM_001039270.1  NP_001034359.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALG126
    Uncharacterized protein
    67(a)
    1 ↔ 1
    GL343277.1(211891-232576)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.45932 Transcribed sequence with weak similarity to protein refNP_077010.1 (H.sapiens) hypothetical protein MGC3136 [Homo sapiens] less 77.97(n)    AL846509.2 
    zebrafish
    (Danio rerio)
    Actinopterygii alg121 asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase) less 61.08(n)
    60.3(a)
      569494  NM_001098749.1  NP_001092219.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG84121 CG8412 55.79(n)
    52.14(a)
      41191  NM_141682.3  NP_649939.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_ZC513.51 Protein ZC513.5 47.01(n)
    41.28(a)
      179185  NM_072670.2  NP_505071.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALG12(YNR030W)4
    ALG121
    Alpha-1,6-mannosyltransferase localized to the ER; responsible for the addition of the alpha-1,6 mannose to dolichol-linked Man7GlcNAc2, acts in the dolichol pathway for N-glycosylation less4
    Alg12p1
    47.49(n)1
    37.44(a)1
      14(678799-680454)4
    8557641, 4  NP_014427.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALG121 alpha-1,6-mannosyltransferase 48.93(n)
    44.06(a)
      5007658  NM_001083979.2  NP_001077448.1 
    rice
    (Oryza sativa)
    Liliopsida Os.381532 Oryza sativa (japonica cultivar-group) cDNA cloneJ023028O16, full insert sequence less 72.8(n)    AK069661.1 


    ENSEMBL Gene Tree for ALG12 (if available)
    TreeFam Gene Tree for ALG12 (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, 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

    10/598 SNPs in ALG12 are shown (see all 598)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0179064
    Congenital disorder of glycosylation 1G (CDG1G)4--see VAR_0179062 R Q mis40--------
    VAR_0179074
    Congenital disorder of glycosylation 1G (CDG1G)4--see VAR_0179072 L P mis40--------
    VAR_0179044
    Congenital disorder of glycosylation 1G (CDG1G)4--see VAR_0179042 T M mis40--------
    VAR_0384284
    Congenital disorder of glycosylation 1G (CDG1G)4--see VAR_0384282 G R mis40--------
    rs289420901,2,4
    CCongenital disorder of glycosylation 1G (CDG1G)4 pathogenic133374870(-) TGATGG/TTCTAC 2 V F mis1 ese30--------
    rs1219079321,2
    C,Fpathogenic133374883(-) CACGCG/AGACAC 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 5651
    rs361494521,2
    C,F--33243337(+) TAGTGC/TGTGCA 1 -- ds50012Minor allele frequency- T:0.50NA 4
    rs777317371,2
    C--33243563(+) TCACAC/TGCACT 1 -- ds50013Minor allele frequency- T:0.04CSA WA NA 240
    rs801032231,2
    C,F--33243598(+) AGTGAG/AGCTGA 1 -- ds50011Minor allele frequency- A:0.08WA 118
    rs771639461,2
    C--33243847(+) AGGGTG/TGGGGG 1 -- ut312Minor allele frequency- T:0.01WA EU 699

    HapMap Linkage Disequilibrium report for ALG12 (50296852 - 50312106 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for ALG12 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724721CNV Deletion23290073
    esv2669119CNV Deletion23128226
    esv2724720CNV Deletion23290073
    dgv5050n71CNV Loss21882294
    dgv5049n71CNV Loss21882294
    nsv915495CNV Loss21882294
    nsv915506CNV Loss21882294
    nsv471221CNV Loss18288195
    dgv5046n71CNV Loss21882294
    nsv915508CNV Loss21882294


    Human Gene Mutation Database (HGMD): ALG12

    Locus Specific Mutation Databases (LSDB): ALG12
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ALG12
    DNA2.0 Custom Variant and Variant Library Synthesis for ALG12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607144   
    OMIM disorders: 607143  
    UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
  • Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]: 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

  • 5 diseases for ALG12:    About MalaCards
    congenital disorder of glycosylation type 1g    congenital disorder of glycosylation    polyhydramnios    skeletal dysplasias
    hypotonia

    1 disease from the University of Copenhagen DISEASES database for ALG12:
    Congenital disorder of glycosylation

    ALG12 for disorders           About GeneDecksing

    GeneTests: ALG12
    GeneReviews: ALG12

    Export disorders for ALG12 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 ALG12 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with ALG12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. (PubMed id 11983712)1, 2, 3 Chantret I.... Moore S.E.H. (2002)
    2. ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig. (PubMed id 12217961)1, 2, 9 Grubenmann C.E....Hennet T. (2002)
    3. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (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. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    6. Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. (PubMed id 12736397)1, 2 Zdebska E.... Delaunay J. (2003)
    7. Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. (PubMed id 12093361)1, 2 Thiel C.... Koerner C. (2002)
    8. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    9. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (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: 79087 HGNC: 19358 AceView: ALG12 Ensembl:ENSG00000182858 euGenes: HUgn79087
    ECgene: ALG12 Kegg: 79087 H-InvDB: ALG12

    (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 ALG12 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALG12
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG12

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ALG12 gene:
    Search GeneIP for patents involving ALG12

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



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    About This Section

     
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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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