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

ALG12 Gene

protein-coding   GIFtS: 54
GCID: GC22M050296

ALG12, alpha-1,6-mannosyltransferase

(Previous names: asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase),...)
 Explore 5 diseases affiliated with
ALG12 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ALG12    

Aliases
for ALG12 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ALG12, Alpha-1,6-Mannosyltransferase1 2     Asparagine-Linked Glycosylation 12 Homolog (S. Cerevisiae,
Alpha-1,6-Mannosyltransferase)2
ECM391 2     Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog2
Asparagine-Linked Glycosylation 12 Homolog (Yeast,
Alpha-1,6-Mannosyltransferase)1 2
     Dol-P-Man Dependent Alpha-1,6-Mannosyltransferase2
Asparagine-Linked Glycosylation Protein 12 Homolog2 3     Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol Alpha-1,6-Mannosyltransferase2
Mannosyltransferase ALG12 Homolog2 3     Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichyl-Alpha-1,6-Mannosyltransferase1
Membrane Protein SB872 3     Dolichyl-P-Mannose:Man-7-GlcNAc-2-PP-Dolichyl-Alpha-6-Mannosyltransferase1
HALG121     Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichol Alpha-1,6-Mannosyltransferase2
CDG1G2 5     Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichyl-Alpha-1,6-Mannosyltransferase1
Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog (S.
Cerevisiae)1
     EC 2.4.1.2603
PP146732     

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


Summaries
for ALG12 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  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 plasmid: ALG12 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

Proteins
for ALG12 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BV10

    • ALG12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_077010.1  
    ENSEMBL proteins: 
     ENSP00000333813   ENSP00000420630   ENSP00000417387  
    Reactome Protein details: Q9BV10
    Human Recombinant Protein Products: 
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    Uscn 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 IEA--


    ALG12 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ALG12

    Protein Domains /
    Families
    for ALG12 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ALG12 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for ALG12 gene

    (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: 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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 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:0052917dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity IEA--


    ALG12 for ontologies           About GeneDecksing



    Pathways & Interactions
    for ALG12 gene

    (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 ALG12
        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 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 IEA--
    GO:0018279protein N-linked glycosylation via asparagine TAS--


    ALG12 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ALG12 gene

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALG12
    Search CenterWatch for drugs/clinical trials and news about ALG12 

    Transcripts
    for ALG12 gene

    (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 ALG12 gene: 
    NM_024105.3  

    Unigene Cluster for ALG12:

    Asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)
    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

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    Inhib. RNA
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    Clone
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    Additional cDNA 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):

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

    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

    Expression
    for ALG12 gene

    (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
    CGAP TAG: GTGGCCCCGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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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    In Situ
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    Orthologs
    for ALG12 gene

    (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 10/31 species (see all 31)    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
    		 --
    		 67(a)
    		 1 ↔ 1
    		 GL343277.1(224354-232031)
    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
    for ALG12 gene

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

    Genomic Variants
    for ALG12 gene

    (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

    10/444 NCBI SNPs in ALG12 are shown (see all 444)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219079321,2
    		C,Fpathogenic33374883(-) CACGCG/AGACAC 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 5651
    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
    rs164451,2
    		F--33243881(+) CTCCCCT/-GAGAG 2 -- ut314Minor allele frequency- -:0.33EU NA EA 342
    rs768483481,2
    		C,F,--33244091(+) CATCAC/TCCTGG 1 -- ut312Minor allele frequency- T:0.12WA EA 238
    rs1155180051,2
    		C,F,--33245174(+) TGCCTC/TAAGAA 1 -- int11Minor allele frequency- T:0.02WA 118
    rs766259511,2
    		F,--33245206(+) AGATGC/TCAATT 1 -- int11Minor allele frequency- T:0.03EA 120
    rs96162031,2
    		C,F,H,--33245770(+) caaccC/GTGGTC 1 -- int18Minor allele frequency- G:0.06NS EA NA WA 768
    rs96277871,2
    		H--33246551(+) ACTTCG/CGAGGG 1 -- int14Minor allele frequency- C:0.00NS EA 416

    HapMap Linkage Disequilibrium report for ALG12 (50296852 - 50312106 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ALG12: --
    Human Gene Mutation Database (HGMD): ALG12

    Locus Specific Mutation Databases (LSDB): ALG12

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALG12
    DNA2.0 Custom Variant and Variant Library Synthesis for ALG12

    Disorders / Diseases
    for ALG12 gene

    (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
    ALG12 for disorders           About GeneDecksing

    OMIM gene information: 607144   
    OMIM disorders: 607143  
    UniProtKB/Swiss-Prot: ALG12_HUMAN, Q9BV10
  • Defects in ALG12 are the cause of congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]. 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

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

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


    Export disorders for ALG12 gene to outside databases

    Publications
    for ALG12 gene

    (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 15):
    (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. 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)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (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. Expanding spectrum of congenital disorder of glycosylation Ig (CDG- Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. (PubMed id 17506107)2 Kranz C.... Freeze H.H. (2007)
    10. Congenital disorders of glycosylation: a booming chapter of pediatrics. (PubMed id 15273506)1 Jaeken J. and Carchon H. (2004)

    External Searches for ALG12 gene

    (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)

    Genome Databases showing ALG12 gene

    (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

    Other Databases showing ALG12 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ALG12 gene

    (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

    Intellectual Property
    for ALG12 gene

    (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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