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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...)
 Explore 7 diseases affiliated with
LFNG via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for LFNG    

Aliases
for LFNG gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase1 2     Lunatic Fringe Homolog (Drosophila)1
SCDO31 2 5     Beta-1,3-N-Acetylglucosaminyltransferase Lunatic Fringe2
EC 2.4.1.2223 8     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


Summaries
for LFNG 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 LFNG:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  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     

Proteins
for LFNG 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: 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

Post-translational modifications:

  • A soluble form may be derived from the membrane form by proteolytic processing (Potential)1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    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 (see all 2): LFNG
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    Novus Biologicals LFNG Protein
    Novus Biologicals LFNG Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



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    ThermoFisher Antibody for LFNG

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    Uscn ELISAs and CLIAs for LFNG

    Protein Domains /
    Families
    for LFNG gene

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

    2 InterPro domains/families:
     IPR017374 Fringe
     IPR003378 Fringe-like

    Graphical View of Domain Structure for InterPro Entry Q8NES3

    ProtoNet protein and cluster: Q8NES3

    1 Blocks protein family: IPB003378 Fringe-like

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


    Function
    for LFNG gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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:
         Mouse knock-outs for LFNG: Lfngtm1Rjo Lfngtm1.2Egan Lfngtm1Seco
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions 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
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LFNG (see all 7)
    OriGene shRNA RFP: LFNG
    OriGene siRNA: LFNG
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    Sirion Biotech Custom design and validation of potent shRNA sequences against LFNG 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of LFNG 
    Sirion Biotech Customized adenovirus for potent knockdown of LFNG

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LFNG (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LFNG (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): LFNG (NM_001040167)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LFNG 

    Cell Line
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    LifeMap BioReagents: cell line associated with LFNG: PureStem ES-209, Meso-prx/latp Progenitor
    Sirion Biotech Customized stable knockdown cell line services for LFNG 
    Sirion Biotech Customized inducible knockdown cell line services for LFNG
    Sirion Biotech Customized stable overexpressing cell line services for LFNG
    Sirion Biotech Customized inducible overexpressing cell line services for LFNG

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LFNG


    Pathways & Interactions
    for LFNG 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 - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Notch Signaling Pathway
    		Notch Signaling Pathway1.00
    		Delta-Notch Signaling Pathway0.27
    		Notch signaling pathway0.82
    2Development_Notch Signaling Pathway
    		Development_Notch Signaling Pathway1.00
    		Development Notch Signaling Pathway0.97
    3Pre-NOTCH Processing in Golgi
    		Pre-NOTCH Processing in Golgi1.00
    		Pre-NOTCH Expression and Processing0.55
    4Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant
    		Signaling by NOTCH0.77
    		Notch Signaling0.23
    5Signaling by GPCR
    		Signal Transduction0.56

    Pathway sources
    See GeneCards unified pathways
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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:0009887organ morphogenesis NAS10341080

    LFNG for ontologies           About GeneDecksing



    Drugs & Compounds
    for LFNG 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 LFNG
    Search CenterWatch for drugs/clinical trials and news about LFNG 

    Transcripts
    for LFNG 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, Sirion Biotech, 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 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

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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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LFNG (see all 7)
    OriGene shRNA RFP: LFNG
    OriGene siRNA: LFNG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LFNG
    Sirion Biotech Custom design and validation of potent shRNA sequences against LFNG 
    Clone
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    Primer
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    Additional cDNA 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 AF193612 BQ015362 BF031445 AA583350 BM797222 BG422267 D20171 
    BM549606 BG164143 AI569874 BC014851 BF110401 AK096284 AW151924 AA805132 
    BX100485 BE713110 CA305967 AI143535 BM854210 U94354 BE839963 BG325616 

    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

    Expression
    for LFNG 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

    LFNG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTCACCTGT
    LFNG Expression
    About this image

    LFNG expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Paraxial MesodermParaxial MesodermParaxial Mesoderm CellsMesoderm
    OvaryAntral FollicleTheca CellsOvary
    OvaryPrimordial FolliclePre-Granulosa CellsOvary
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)
    Primitive gut tube-like cells (A scalable, suspensi...)

    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

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    In Situ
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    Orthologs
    for LFNG 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 animals.

    Orthologs for LFNG gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 73(a)
    		 1 ↔ 1
    		 GL343340.1(209497-250732)
    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
    for LFNG gene

    (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



    Genomic Variants
    for LFNG 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

    10/399 NCBI SNPs in LFNG are shown (see all 399)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2865561,2
    		C,H--2550173(+) CAGGGG/ATGGAG 1 -- us2k19Minor allele frequency- A:0.38NA EA MN WA CSA 753
    rs1152591201,2
    		F--2550184(+) ACGCTG/AAGCAC 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1466979171,2
    		--2550236(+) GGGCCG/TGGCAG 1 -- us2k10--------
    rs1160936891,2
    		F--2550252(+) GGGGGG/TTTCGG 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1861325301,2
    		--2550315(+) CTCCCA/GACTGG 1 -- us2k10--------
    rs1889402291,2
    		--2550346(+) GGTGGC/TAGAGC 1 -- us2k10--------
    rs1402087431,2
    		--2550408(+) AGCTCC/TAGCTC 1 -- us2k10--------
    rs1819918071,2
    		--2550453(+) AAGGCC/TGAGGT 1 -- us2k10--------
    rs1452666841,2
    		--2550466(+) GGAGAC/TGCACG 1 -- us2k10--------
    rs1465063841,2
    		--2550467(+) GAGACA/GCACGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for LFNG (2552163 - 2568811 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for LFNG
         2 Indels: 99847 43719
    Human Gene Mutation Database (HGMD): LFNG

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

    Disorders / Diseases
    for LFNG 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
    LFNG for disorders           About GeneDecksing

    OMIM gene information: 602576   
    OMIM disorders: 609813  
    UniProtKB/Swiss-Prot: LFNG_HUMAN, Q8NES3
  • Defects in LFNG are the cause of spondylocostal dysostosis type 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

    7 diseases for LFNG:    About MalaCards
    spondylocostal dysostosis    spondylocostal dysostosis 3    dysostosis    spondylocostal dysostosis, autosomal recessive
    scoliosis    colon adenocarcinoma    adenocarcinoma

    1 disease from the University of Copenhagen DISEASES database for LFNG:
    Spondylocostal dysostosis
    GeneTests: LFNG
    Spondylocostal Dysostosis, Autosomal Recessive


    Export disorders for LFNG gene to outside databases

    Publications
    for LFNG 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 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)

    External Searches for LFNG 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 LFNG gene

    (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

    Other Databases showing LFNG gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing LFNG 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 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

    Intellectual Property
    for LFNG gene

    (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



    Products
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    About This Section

     
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