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

LFNG Gene

protein-coding   GIFtS: 65
GCID: GC07P002552

LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase

(Previous names: lunatic fringe (Drosophila) homolog, lunatic fringe homolog...)
  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
LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase1 2     Lunatic Fringe Homolog (Drosophila)1
EC 2.4.1.2223 8     Beta-1,3-N-Acetylglucosaminyltransferase Lunatic Fringe2
SCDO32 5     O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase3
Lunatic Fringe (Drosophila) Homolog1     

External Ids:    HGNC: 65601   Entrez Gene: 39552   Ensembl: ENSG000001060037   OMIM: 6025765   UniProtKB: Q8NES33   

Export aliases for LFNG gene to outside databases

Previous GC identifers: GC07P002201 GC07P002303 GC07P002302 GC07P002330 GC07P002524 GC07P002469


(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 LFNG Gene:
This gene is a member of the fringe gene family which also includes radical and manic fringe genes. They all
encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries
during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe
proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of
O-linked fucose residues on Notch, which alters Notch signaling. This gene product is predicted to be a
single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the
related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with
autosomal recessive spondylocostal dysostosis 3. Multiple transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, Oct 2009)

GeneCards Summary for LFNG Gene: 
LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase) is a protein-coding gene. Diseases associated with LFNG include spondylocostal dysostosis, autosomal recessive, and spondylocostal dysostosis 3, and among its related super-pathways are Notch signaling pathway and Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants. GO annotations related to this gene include O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity and molecular_function. An important paralog of this gene is MFNG.

UniProtKB/Swiss-Prot: LFNG_HUMAN, Q8NES3
Function: Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like
repeats in the extracellular domain of Notch molecules. Decreases the binding of JAGGED1 to NOTCH2 but not that
of DELTA1. Essential mediator of somite segmentation and patterning (By similarity)

Gene Wiki entry for LFNG 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_000007.13  NC_018918.2  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LFNG gene promoter:
         GR   SREBP-1c   GR-beta   SREBP-1b   GATA-2   c-Ets-1   HEN1   SREBP-1a   GR-alpha   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for LFNG

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


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

Entrez Gene cytogenetic band: 7p22.2   Ensembl cytogenetic band:  7p22.3   HGNC cytogenetic band: 7p22.3

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P002552:  view genomic region     (about GC identifiers)

Start:
2,552,163 bp from pter      End:
2,568,811 bp from pter
Size:
16,649 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 2,600,032-2,616,654     

(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: LFNG_HUMAN, Q8NES3 (See protein sequence)
Recommended Name: Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe  
Size: 379 amino acids; 41773 Da
Cofactor: Manganese (By similarity)
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
Secondary accessions: B3KTY6 B5MCR5 O00589 Q96C39 Q9UJW5
Alternative splicing: 4 isoforms:  Q8NES3-1   Q8NES3-2   Q8NES3-3   Q8NES3-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LFNG: NX_Q8NES3

Explore proteomics data for LFNG at MOPED 

Post-translational modifications:

  • UniProtKB: A soluble form may be derived from the membrane form by proteolytic processing (Potential)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NES3

  • 4/13 DME Specific Peptides for LFNG (Q8NES3) (see all 13)
     DDDNYVN  RLPDDCT  QVTLSYG  FIAVKTT 

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

    LFNG Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001035257.1  NP_001035258.1  NP_001159827.1  NP_002295.1  

    ENSEMBL proteins: 
     ENSP00000385764   ENSP00000384786   ENSP00000222725   ENSP00000352579   ENSP00000343095  
    Reactome Protein details: Q8NES3
    Human Recombinant Protein Products for LFNG: 
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    OriGene Protein Over-expression Lysate for LFNG
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    OriGene Custom Protein Services for LFNG
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    Novus Biologicals LFNG Protein
    Novus Biologicals LFNG Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LFNG 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS10341080
    GO:0016020membrane ----
    GO:0030173integral to Golgi membrane IEA--

    LFNG for ontologies           About GeneDecksing



    LFNG Antibody Products: 
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    ThermoFisher Antibody for LFNG
    LSBio Antibodies in human, mouse, rat for LFNG 

    Assay Products for LFNG: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for LFNG
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LFNG 
    Cloud-Clone Corp. CLIAs for LFNG


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    B3GT: Beta 3-glycosyltransferases

    2 InterPro protein domains:
     IPR017374 Fringe
     IPR003378 Fringe-like

    Graphical View of Domain Structure for InterPro Entry Q8NES3

    ProtoNet protein and cluster: Q8NES3

    1 Blocks protein domain: IPB003378 Fringe-like

    UniProtKB/Swiss-Prot: LFNG_HUMAN, Q8NES3
    Similarity: Belongs to the glycosyltransferase 31 family


    LFNG 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: LFNG_HUMAN, Q8NES3
    Function: Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like
    repeats in the extracellular domain of Notch molecules. Decreases the binding of JAGGED1 to NOTCH2 but not that
    of DELTA1. Essential mediator of somite segmentation and patterning (By similarity)
    Catalytic activity: Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated
    protein acceptor

         Genatlas biochemistry entry for LFNG:
    lunatic fringe,putative regulator of developmental processes through regulation of the sensitivity of NOTCH
    receptor genes for their specific ligands,essential mediator of somite segmentation and patterning

         Enzyme Number (IUBMB): EC 2.4.1.2221 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0033829O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity IEA--
    GO:0046872metal ion binding IEA--
         
    LFNG for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Lfng):
     cardiovascular system  embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear 
     hematopoietic system  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 
     reproductive system  respiratory system  skeleton  vision/eye 

    LFNG for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for LFNG: Lfngtm1Rjo Lfngtm1.2Egan Lfngtm1Seco

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LFNG 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LFNG

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LFNG
    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate LFNG (see all 41):
    hsa-miR-345 hsa-miR-3938 hsa-miR-640 hsa-miR-429 hsa-miR-513a-5p hsa-miR-146a hsa-miR-3667-5p hsa-miR-1276
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    OriGene clones in human, mouse for LFNG (see all 15)
    OriGene ORF clones in mouse, rat for LFNG
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    GenScript: all cDNA clones in your preferred vector (see all 4): LFNG (NM_001040167)
    Sino Biological Human cDNA Clone for LFNG
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LFNG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LFNG
    Sirion Biotech Customized lentivirus for stable overexpression of LFNG 
                         Customized lentivirus expression plasmids for stable overexpression of LFNG 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for LFNG
    LifeMap BioReagents: cell line associated with LFNG: PureStem ES-209, Meso-prx/latp Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LFNG


    (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 LFNG About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Notch signaling pathway
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    2Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Signaling by NOTCH0.74
    Notch Signaling0.31
    3Pre-NOTCH Processing in Golgi
    Pre-NOTCH Expression and Processing0.55
    Pre-NOTCH Processing in Golgi0.55
    4Signaling by GPCR
    Signal Transduction0.55
    5Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development Notch Signaling Pathway0.54

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for LFNG
        Development Notch Signaling Pathway

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for LFNG
        Notch Signaling

    1 GeneGo (Thomson Reuters) Pathway for LFNG
        Development Notch Signaling Pathway

    2 BioSystems Pathways for LFNG
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway


    4        Reactome Pathways for LFNG
        Pre-NOTCH Expression and Processing
    Signaling by NOTCH
    Pre-NOTCH Processing in Golgi
    Signal Transduction


    2         Kegg Pathways  (Kegg details for LFNG):
        Other types of O-glycan biosynthesis
    Notch signaling pathway


    LFNG for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/13 Interacting proteins for LFNG (Q8NES33 ENSP000002227254) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NOTCH2Q047213, ENSP000002566464I2D: score=1 STRING: ENSP00000256646
    NOTCH1P465313, ENSP000002775414I2D: score=1 STRING: ENSP00000277541
    B4GALT1ENSP000003690554STRING: ENSP00000369055
    ATP2A1ENSP000003495954STRING: ENSP00000349595
    ATP2A3ENSP000003530724STRING: ENSP00000353072
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development IEA--
    GO:0007143female meiosis IEA--
    GO:0007219Notch signaling pathway TAS--
    GO:0007386compartment pattern specification IEA--
    GO:0007389pattern specification process ----

    LFNG 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 LFNG

    Search CenterWatch for drugs/clinical trials and news about LFNG

    (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 LFNG gene (4 alternative transcripts): 
    NM_001040167.1  NM_001040168.1  NM_001166355.1  NM_002304.2  

    Unigene Cluster for LFNG:

    LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
    Hs.159142  [show with all ESTs]
    Unigene Representative Sequence: NM_001040167
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000402506(uc021zyw.1) ENST00000402045(uc021zyx.1) ENST00000222725(uc003smf.3)
    ENST00000359574(uc003smg.3) ENST00000493850 ENST00000338732
    miRNA
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    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate LFNG (see all 41):
    hsa-miR-345 hsa-miR-3938 hsa-miR-640 hsa-miR-429 hsa-miR-513a-5p hsa-miR-146a hsa-miR-3667-5p hsa-miR-1276
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LFNG
    Clone
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    Sirion Biotech Customized lentivirus for stable overexpression of LFNG 
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LFNG

    Additional mRNA sequence: 

    AF193612.1 AK096284.1 BC014851.1 U94354.1 

    5 DOTS entries:

    DT.75176778  DT.305349  DT.106093  DT.91705271  DT.95082690 

    24/33 AceView cDNA sequences (see all 33):

    AW771962 BF110401 BM549606 AK096284 BQ015362 BG164143 BF031445 AF193612 
    AI569874 CA305967 BE713110 BG422267 AA583350 BM797222 BC014851 D20171 
    AI143535 AA805132 AW151924 BX100485 BM854210 U94354 BE839963 BM924257 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for LFNG    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12
    SP1:              -     -                                                                     
    SP2:                    -                                                           -         
    SP3:                                                                                          
    SP4:                                                                                          


    ECgene alternative splicing isoforms for LFNG

    (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

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


    LFNG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Thalamus
             Human Brain Vascular Smooth Muscle Cells (HBVSMC)   
             Septum   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Human Renal Mesangial Cells (HRMC)   
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Paraxial Mesoderm Cells Paraxial Mesoderm
             PureStem ES-209, Meso-prx/latp Progenitor
     
     Uncategorized (Uncategorized)    fully expand to see all 2 entries
             PureStem Progenitor E68
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             reticulocytes   

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

    SOURCE GeneReport for Unigene cluster: Hs.159142
        SABiosciences Expression via Pathway-Focused PCR Arrays including LFNG: 
              Notch Signaling Targets in human mouse rat
              Glycosylation in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LFNG
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LFNG

    (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 animals.

    Orthologs for LFNG gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lfng1 , 5 LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase1, 5 85.1(n)1
    89.15(a)1
      5 (79.15 cM)5
    168481  NM_008494.31  NP_032520.11 
     1406073415 
    chicken
    (Gallus gallus)
    Aves LFNG1 LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 78.09(n)
    75.21(a)
      395790  NM_204948.1  NP_990279.1 
    lizard
    (Anolis carolinensis)
    Reptilia LFNG6
    Uncharacterized protein
    74(a)
    1 ↔ 1
    GL343340.1(209013-250732)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3978552 lunatic fringe 77.31(n)    U77640.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lfng2 lunatic fringe homolog 77.27(n)   30158  AY007434.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fng3 dorsal/ventral pattern formation,
    imaginal disc more
    46(a)   3 78A1   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LFNG gene
    MFNG2  RFNG2  
    2 SIMAP similar genes for LFNG using alignment to 1 protein entry:     LFNG_HUMAN:
    RFNG    MFNG

    LFNG 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

    10/519 SNPs in LFNG are shown (see all 519)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0258504
    Spondylocostal dysostosis 3 (SCDO3)4--see VAR_0258502 F L mis40--------
    rs1048940241,2
    Cpathogenic12612772(+) CGCTTA/CATCGA 8 L F mis10--------
    VAR_0467854
    ----see VAR_0467852 G R mis40--------
    rs58819281,2
    C--2554451(+) GTCTG-/TCCA  
            
    TCCAT
    1 -- int10--------
    rs1995823771,2
    C--2554451(+) GTCTG-/TCC   
       ATCCA
    TCCAT
    1 -- int10--------
    rs1480725181,2
    C--2554654(+) TGTCT-/ATC   
       CATCC
    ATCCA
    1 -- int10--------
    rs720618121,2
    C--2554655(+) GTCTA-/TCCATCCATCCAT
    CCATCCATCCATCTG
    TCCAT
    1 -- int10--------
    rs102764921,2
    C--2554674(+) CATCCA/GTCCAT 1 -- int1 tfbs30--------
    rs570328821,2
    C--2556676(+) CCCTT-/TGTCCT 2 -- int1 us2k12Minor allele frequency- T:0.25NA CSA 4
    rs2015743731,2
    --2566954(+) GTGCC-/TGTGCG
            
    TGTGC
    4 -- cds10--------

    HapMap Linkage Disequilibrium report for LFNG (2552163 - 2568811 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for LFNG (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2733856CNV Deletion23290073
    esv2733857CNV Deletion23290073
    esv5169CNV Duplication18987735
    esv2575091CNV Insertion19546169
    nsv887298CNV Loss21882294
    dgv7117n71CNV Loss21882294
    dgv7118n71CNV Loss21882294
    nsv887297CNV Loss21882294
    nsv471216CNV Loss18288195
    nsv830887CNV Loss17160897


    Human Gene Mutation Database (HGMD): LFNG
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LFNG
    DNA2.0 Custom Variant and Variant Library Synthesis for LFNG

    (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: 602576   
    OMIM disorders: 609813  
    UniProtKB/Swiss-Prot: LFNG_HUMAN, Q8NES3
  • Spondylocostal dysostosis 3 (SCDO3) [MIM:609813]: An autosomal recessive condition of variable severity
    associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of
    vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine
    (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a
    dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated
    respiratory infections resulting in life-threatening complications in the first year of life. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 10 diseases for LFNG:    About MalaCards
    spondylocostal dysostosis, autosomal recessive    spondylocostal dysostosis 3    lfng-related spondylocostal dysostosis, autosomal recessive    dysostosis
    spondylocostal dysostosis    scoliosis    colon adenocarcinoma    adenocarcinoma
    gastric cancer    breast cancer

    1 disease from the University of Copenhagen DISEASES database for LFNG:
    Spondylocostal dysostosis

    LFNG for disorders           About GeneDecksing

    GeneTests: LFNG
    GeneReviews: LFNG

    Export disorders for LFNG 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 LFNG gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with LFNG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway. (PubMed id 9187150)1, 2, 3 Johnston S.H....Vogt T.F. (1997)
    2. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. (PubMed id 16385447)1, 2, 9 Sparrow D.B.... Dunwoodie S.L. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Clock regulatory elements control cyclic expression of Lunatic fringe during somitogenesis. (PubMed id 12110169)1, 2 Cole S.E.... Vogt T.F. (2002)
    5. Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation. (PubMed id 11346656)1, 2 Shimizu K.... Hirai H. (2001)
    6. Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12. (PubMed id 9878264)1, 3 Egan S....Scherer S.W. (1998)
    7. Lunatic fringe deficiency cooperates with the Met/Cave olin gene amplicon to induce basal-like breast cancer. (PubMed id 22624713)1 Xu K....Egan S.E. (2012)
    8. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Mutation of the fucose-specific beta1,3 N-acetylgluco saminyltransferase LFNG results in abnormal formation of the spine. (PubMed id 19061953)1 Dunwoodie S.L. (2009)

    (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: 3955 HGNC: 6560 AceView: LFNG Ensembl:ENSG00000106003 euGenes: HUgn3955
    ECgene: LFNG Kegg: 3955 H-InvDB: LFNG

    (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 LFNG Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GNT1
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LFNG
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_551

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

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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