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LARGE Gene

protein-coding   GIFtS: 63
GCID: GC22M033561

Like-Glycosyltransferase

  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)
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Aliases
like-glycosyltransferase1 2     Acetylglucosaminyltransferase-Like Protein2
Acetylglucosaminyltransferase-Like 1A2 3     Glycosyltransferase-Like Protein LARGE12
MDC1D2 5     like-acetylglucosaminyltransferase2
MDDGA62 5     EC 2.4.-.-3
MDDGB62 5     LARGE13
KIAA06093 5     

External Ids:    HGNC: 65111   Entrez Gene: 92152   Ensembl: ENSG000001334247   OMIM: 6035905   UniProtKB: O954613   

Export aliases for LARGE gene to outside databases

Previous GC identifers: GC22M030365 GC22M031993 GC22M016626 GC22M033668


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LARGE Gene:
This gene, which is one of the largest in the human genome, encodes a member of the
N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation
of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may
also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel
form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of
alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same
protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for LARGE Gene:
LARGE (like-glycosyltransferase) is a protein-coding gene. Diseases associated with LARGE include muscular dystrophy-dystroglycanopathy , type a, 6, and large-related muscle diseases. GO annotations related to this gene include transferase activity, transferring glycosyl groups and acetylglucosaminyltransferase activity. An important paralog of this gene is B3GNT1.

UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461
Function: Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the
synthesis of glycoprotein and glycosphingolipid sugar chains. May be involved in the addition of a repeated
disaccharide unit

Gene Wiki entry for LARGE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LARGE gene promoter:
         GR   MAZR   GR-beta   NF-YC   RelA   GR-alpha   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLARGE promoter sequence
   Search Chromatin IP Primers for LARGE

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


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

Entrez Gene cytogenetic band: 22q12.3   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q12.3

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M033561:  view genomic region     (about GC identifiers)

Start:
33,558,212 bp from pter      End:
34,318,829 bp from pter
Size:
760,618 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461 (See protein sequence)
Recommended Name: Glycosyltransferase-like protein LARGE1  
Size: 756 amino acids; 88066 Da
Subunit: Interacts with DAG1 (via the N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1
to laminin (By similarity)
Sequence caution: Sequence=BAA25535.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B0QXZ7 O60348 Q17R80 Q9UGD1 Q9UGE7 Q9UGG3 Q9UGZ8 Q9UH22
Alternative splicing: 2 isoforms:  O95461-1   O95461-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LARGE: NX_O95461

Explore proteomics data for LARGE at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn97, Asn122, Asn148, Asn272
  • Modification sites at PhosphoSitePlus

  • See LARGE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004728.1  NP_598397.1  

    ENSEMBL proteins: 
     ENSP00000476866   ENSP00000476364   ENSP00000476415   ENSP00000347088   ENSP00000385223  
     ENSP00000403841   ENSP00000396277   ENSP00000415546   ENSP00000389605   ENSP00000411065  
     ENSP00000406000   ENSP00000336636   ENSP00000380549   ENSP00000388544   ENSP00000407917  

    LARGE Human Recombinant Protein Products:

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    Novus Biologicals LARGE Protein
    Novus Biologicals LARGE Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for LARGE

    LARGE Antibody Products:

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    Cloud-Clone Corp. CLIAs for LARGE


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GLT8: Glycosyltransferase family 8 domain containing

    1 InterPro protein domain:
     IPR002495 Glyco_trans_8

    Graphical View of Domain Structure for InterPro Entry O95461

    ProtoNet protein and cluster: O95461

    1 Blocks protein domain: IPB002495 Glycosyl transferase

    UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461
    Similarity: Belongs to the glycosyltransferase 8 family


    LARGE 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LARGE_HUMAN, O95461
    Function: Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the
    synthesis of glycoprotein and glycosphingolipid sugar chains. May be involved in the addition of a repeated
    disaccharide unit

         Genatlas biochemistry entry for LARGE:
    large new member of the glycosyltransferase gene family,putative N-acetylglucosaminyl transferase,ubiquitously
    expressed,localized in the meningioma critical region,see also MN1

         Enzyme Number (IUBMB): EC 2.4.-.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008375acetylglucosaminyltransferase activity TAS9892679
    GO:0016757transferase activity, transferring glycosyl groups TAS9892679
         
    LARGE for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for LARGE:
     Decreased influenza A/WSN/33 r  Increased gamma-H2AX phosphory 

         14 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Large):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  growth/size/body 
     hearing/vestibular/ear  homeostasis/metabolism  immune system  mortality/aging  muscle 
     nervous system  reproductive system  skeleton  vision/eye 

    LARGE for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LARGE
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LARGE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LARGE
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LARGE

    miRNA
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    miRTarBase miRNAs that target LARGE:
    hsa-mir-18a-5p (MIRT050713)

    Block miRNA regulation of human, mouse, rat LARGE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LARGE (see all 14):
    hsa-miR-30c hsa-miR-495 hsa-miR-622 hsa-miR-30d hsa-miR-132 hsa-miR-3926 hsa-miR-199a-5p hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidLARGE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LARGE
    Predesigned siRNA for gene silencing in human, mouse, rat LARGE

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): LARGE (NM_133642)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LARGE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LARGE

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


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LARGE_HUMAN, O95461: Golgi apparatus membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    extracellular1
    lysosome1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030173integral component of Golgi membrane TAS9892679

    LARGE for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461
    Pathway: Protein modification; protein glycosylation

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

        GeneGlobe Interaction Network for LARGE

    1 Interacting protein for LARGE (O954613) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAG1Q141183I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006044N-acetylglucosamine metabolic process TAS9892679
    GO:0006486protein glycosylation IEA--
    GO:0006688glycosphingolipid biosynthetic process TAS9892679
    GO:0009101glycoprotein biosynthetic process TAS9892679
    GO:0046716muscle cell cellular homeostasis ISS--

    LARGE for ontologies           About GeneDecksing



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

    Browse Tocris compounds for LARGE



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for LARGE gene (2 alternative transcripts): 
    NM_004737.4  NM_133642.3  

    Unigene Cluster for LARGE:

    Like-glycosyltransferase
    Hs.474667  [show with all ESTs]
    Unigene Representative Sequence: AJ007583
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000608642 ENST00000610186 ENST00000421232 ENST00000609799 ENST00000354992(uc003and.4 uc011ame.2)
    ENST00000402320 ENST00000421768 ENST00000476315 ENST00000430220 ENST00000413114
    ENST00000462606 ENST00000494763 ENST00000434071 ENST00000432776 ENST00000423375
    ENST00000337431 ENST00000397394(uc011amd.2 uc003ane.4 uc010gwp.3 uc011amf.2)
    ENST00000437602
    miRNA
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    Block miRNA regulation of human, mouse, rat LARGE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LARGE (see all 14):
    hsa-miR-30c hsa-miR-495 hsa-miR-622 hsa-miR-30d hsa-miR-132 hsa-miR-3926 hsa-miR-199a-5p hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidLARGE 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for LARGE
    Predesigned siRNA for gene silencing in human, mouse, rat LARGE
    Clone
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    OriGene clones in human, mouse for LARGE (see all 11)
    OriGene ORF clones in mouse, rat for LARGE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): LARGE (NM_133642)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LARGE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LARGE
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LARGE
      QuantiTect SYBR Green Assays in human, mouse, rat LARGE
      QuantiFast Probe-based Assays in human, mouse, rat LARGE

    Additional mRNA sequence: 

    AB011181.3 AJ007583.1 AK294766.1 AK295636.1 AK301808.1 AK310462.1 BC117425.1 BC126404.1 
    CR456510.1 

    12 DOTS entries:

    DT.100813135  DT.315705  DT.120629379  DT.100813136  DT.95329678  DT.433516  DT.75113844  DT.91805939 
    DT.97763862  DT.120629265  DT.40281593  DT.95138366 

    Selected AceView cDNA sequences (see all 156):

    AI198348 BF196845 BQ900950 NM_133642 NM_004737 CR456510 AW613918 BE327208 
    AJ007583 AU123792 AW575461 AI701508 BQ233229 Z40515 CR607752 AA653284 
    BQ680300 AA313671 BU180362 BM666689 AI382510 CD619268 BF110360 BF445377 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LARGE (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:              -     -                 -     -     -                                                                                                   
    SP2:              -     -     -           -     -     -                                                                 -                                 
    SP3:                                      -     -     -                                                                                                   
    SP4:        -     -     -                 -     -     -                                                                                                   
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for LARGE

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


    LARGE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    LARGE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LARGE Protein Expression

    Genevestigator expression for LARGE

    SOURCE GeneReport for Unigene cluster: Hs.474667

    UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461
    Tissue specificity: Ubiquitous. Highest expression in heart, brain and skeletal muscle

        Custom PCR Arrays for LARGE
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    QuantiFast Probe-based Assays in human, mouse, rat LARGE
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LARGE

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

    Orthologs for LARGE gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Large1 , 5 like-glycosyltransferase1, 5 88.8(n)1
    97.75(a)1
      8 (35.08 cM)5
    167951  NM_010687.11  NP_034817.11 
     728145995 
    chicken
    (Gallus gallus)
    Aves LARGE1 like-glycosyltransferase 83.99(n)
    95.9(a)
      418062  NM_001004383.1  NP_001004383.1 
    lizard
    (Anolis carolinensis)
    Reptilia LARGE6
    like-glycosyltransferase
    92(a)
    1 ↔ 1
    5(20253475-20614633)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686362 hypothetical protein MGC68636 75.16(n)    BC060410.1 
    zebrafish
    (Danio rerio)
    Actinopterygii large1 like-glycosyltransferase 77.07(n)
    85.47(a)
      446213  NM_001004537.1  NP_001004537.1 
    worm
    (Caenorhabditis elegans)
    Secernentea K09C8.43   -- 33(a)   X(11001873-11005008)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LARGE gene
    B3GNT12  GYLTL1B2  XXYLT12  
    1 SIMAP similar gene for LARGE using alignment to 13 protein entries:     LARGE_HUMAN (see all proteins):
    GYLTL1B

    LARGE 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LARGE (see all 15530)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0650644
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6)4--see VAR_0650642 S F mis40--------
    VAR_0198114
    Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6)4--see VAR_0198112 E K mis40--------
    VAR_0650654
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6)4--see VAR_0650652 W R mis40--------
    rs1457104201,2
    C--16629875(+) TTGCT-/TTTG  
            
    TTTGT
    2 -- int10--------
    rs1138848591,2
    C--16635949(+) AAACAAAAC/-  
            
    AAACA
    2 -- int11Minor allele frequency- -:0.50CSA 2
    rs1116670341,2
    C--16639213(+) TCACA-/AAAC/AA
    ACAAACAAAC
    AAAAC
    4 -- int1 cds11CSA 2
    rs1490670691,2
    C--16639402(+) GTCCC-/AGAAGGAC 2 -- int10--------
    rs112865431,2
    C--16651234(+) CCCAA-/GAAGGC 2 -- int10--------
    rs1502054901,2
    C--16677852(+) AAGCC-/AAAAAA 2 -- int10--------
    rs2003717321,2
    C--16678520(+) AGAGCC/TTTTGC 2 -- int10--------

    HapMap Linkage Disequilibrium report for LARGE (33558212 - 33808212 bp, first 250kb of LARGE)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LARGE (see all 68):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724160CNV Deletion23290073
    esv2724163CNV Deletion23290073
    esv2724156CNV Deletion23290073
    esv2724165CNV Deletion23290073
    esv5012CNV Deletion18987735
    esv2675700CNV Deletion23128226
    esv2678147CNV Deletion23128226
    esv2674473CNV Deletion23128226
    esv2659175CNV Deletion23128226
    esv2678421CNV Deletion23128226

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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LARGE
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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.)
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    OMIM gene information: 603590   
    OMIM disorders: 613154  608840  
    UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461
  • Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6) [MIM:608840]: A
    congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural
    brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) [MIM:613154]:
    An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone
    lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the
    first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe
    muscle-eye-brain disease. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for LARGE (see all 25):    About MalaCards
    muscular dystrophy-dystroglycanopathy , type a, 6    large-related muscle diseases    muscular dystrophy-dystroglycanopathy , type b, 6    muscular dystrophy-dystroglycanopathy , type b, 14
    muscular dystrophy-dystroglycanopathy , type a, 14    muscular dystrophy-dystroglycanopathy , type a, 7    congenital muscular dystrophy    muscular dystrophy-dystroglycanopathy
    fukuyama congenital muscular dystrophy    muscle eye brain disease    brain disease    walker-warburg syndrome
    mn1    muscular dystrophy    cleft lip +/- cleft palate    cleft lip
    mental retardation    cleft palate    lissencephaly    attention deficit hyperactivity disorder

    1 disease from the University of Copenhagen DISEASES database for LARGE:
    Congenital muscular dystrophy

    LARGE for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for LARGE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    walker-warburg syndrome 95.4 4 17436019 (2), 15605948 (1), 15773323 (1)
    muscle-eye-brain disease 95.1 2 15605948 (1), 20044576 (1)
    muscular dystrophies 89.9 16 15833424 (2), 15661757 (2), 17436019 (2), 12678490 (1) (see all 12)
    fukuyama congenital muscular dystrophy 89.9 3 15605948 (1), 15229394 (1), 20044576 (1)
    eye abnormalities 79.5 1 17436019 (1)
    muscular dystrophy limb-girdle 75.5 1 15605948 (1)
    severe mental retardation 52.3 1 17436019 (1)

    Genetic Association Database (GAD): LARGE
    Human Genome Epidemiology (HuGE) Navigator: LARGE (4647 documents)

    Export disorders for LARGE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LARGE gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with LARGE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family. (PubMed id 9892679)1, 2, 3, 9 Peyrard M.... Dumanski J.P. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)1, 2, 4, 9 Mercuri E.... Bertini E. (Neurology 2009)
    3. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. (PubMed id 12966029)1, 2, 3, 9 Longman C.... Muntoni F. (Hum. Mol. Genet. 2003)
    4. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I.... Wright H. (Nature 1999)
    5. LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE. (PubMed id 15752776)1, 2, 9 Fujimura K.... Narimatsu H. (Biochem. Biophys. Res. Commun. 2005)
    6. Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. (PubMed id 15661757)1, 2, 9 Brockington M.... Muntoni F. (Hum. Mol. Genet. 2005)
    7. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (PubMed id 17878207)1, 4, 9 Godfrey C.... Muntoni F. (Brain 2007)
    8. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9215 HGNC: 6511 AceView: LARGE Ensembl:ENSG00000133424 euGenes: HUgn9215
    ECgene: LARGE H-InvDB: LARGE

    (According to HUGE)
    About This Section

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    HUGE: KIAA0609

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for LARGE Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LARGE Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LARGE[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=LARGE
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_549

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

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



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