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Aliases for LFNG Gene

Aliases for LFNG Gene

  • LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase 2 3 5
  • EC 2.4.1.222 4 63
  • O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase 4
  • Lunatic Fringe (Drosophila) Homolog 2
  • Lunatic Fringe Homolog (Drosophila) 2
  • SCDO3 3

External Ids for LFNG Gene

Previous GeneCards Identifiers for LFNG Gene

  • GC07P002201
  • GC07P002303
  • GC07P002302
  • GC07P002330
  • GC07P002524
  • GC07P002469
  • GC07P002552

Summaries for LFNG Gene

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 3, autosomal recessive and spondylocostal dysostosis, autosomal recessive. Among its related pathways are Signaling by GPCR and Signaling by NOTCH1. GO annotations related to this gene include transferase activity, transferring glycosyl groups and O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity. An important paralog of this gene is MFNG.

UniProtKB/Swiss-Prot for LFNG Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LFNG Gene

Genomics for LFNG Gene

Regulatory Elements for LFNG Gene

Genomic Location for LFNG Gene

Chromosome:
7
Start:
2,512,529 bp from pter
End:
2,529,177 bp from pter
Size:
16,649 bases
Orientation:
Plus strand

Genomic View for LFNG Gene

Genes around LFNG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LFNG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LFNG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LFNG Gene

Proteins for LFNG Gene

  • Protein details for LFNG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NES3-LFNG_HUMAN
    Recommended name:
    Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe
    Protein Accession:
    Q8NES3
    Secondary Accessions:
    • B3KTY6
    • B5MCR5
    • O00589
    • Q96C39
    • Q9UJW5

    Protein attributes for LFNG Gene

    Size:
    379 amino acids
    Molecular mass:
    41773 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LFNG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LFNG Gene

Proteomics data for LFNG Gene at MOPED

Post-translational modifications for LFNG Gene

  • A soluble form may be derived from the membrane form by proteolytic processing.
  • Glycosylation at Asn 167
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LFNG (LFNG)

Domains & Families for LFNG Gene

Gene Families for LFNG Gene

Protein Domains for LFNG Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for LFNG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NES3

UniProtKB/Swiss-Prot:

LFNG_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with LFNG: view

Function for LFNG Gene

Molecular function for LFNG Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated protein acceptor.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for LFNG Gene

genes like me logo Genes that share phenotypes with LFNG: view

Human Phenotype Ontology for LFNG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LFNG Gene

MGI Knock Outs for LFNG:

Animal Model Products

  • Taconic Biosciences Mouse Models for LFNG

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for LFNG Gene

Localization for LFNG Gene

Subcellular locations from UniProtKB/Swiss-Prot for LFNG Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LFNG Gene COMPARTMENTS Subcellular localization image for LFNG gene
Compartment Confidence
extracellular 5
golgi apparatus 4
nucleus 3
plasma membrane 2
endoplasmic reticulum 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LFNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LFNG: view

Pathways & Interactions for LFNG Gene

genes like me logo Genes that share pathways with LFNG: view

Pathways by source for LFNG Gene

1 GeneGo (Thomson Reuters) pathway for LFNG Gene
1 Qiagen pathway for LFNG Gene

SIGNOR curated interactions for LFNG Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for LFNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001756 somitogenesis ISS --
GO:0002315 marginal zone B cell differentiation ISS --
GO:0007143 female meiotic division IEA --
GO:0007386 compartment pattern specification IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with LFNG: view

Drugs & Compounds for LFNG Gene

No Compound Related Data Available

Transcripts for LFNG Gene

Unigene Clusters for LFNG Gene

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LFNG Gene

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

Relevant External Links for LFNG Gene

GeneLoc Exon Structure for
LFNG
ECgene alternative splicing isoforms for
LFNG

Expression for LFNG Gene

mRNA expression in normal human tissues for LFNG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LFNG Gene

This gene is overexpressed in Whole Blood (x6.5) and Pancreas (x5.5).

Protein differential expression in normal tissues from HIPED for LFNG Gene

This gene is overexpressed in Heart (31.8), Stomach (20.5), and Pancreas (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LFNG Gene



SOURCE GeneReport for Unigene cluster for LFNG Gene Hs.159142

genes like me logo Genes that share expression patterns with LFNG: view

Protein tissue co-expression partners for LFNG Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for LFNG Gene

Orthologs for LFNG Gene

This gene was present in the common ancestor of animals.

Orthologs for LFNG Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LFNG 35
  • 89.36 (n)
  • 91.56 (a)
LFNG 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LFNG 35
  • 91.18 (n)
  • 93.39 (a)
LFNG 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lfng 35
  • 84.66 (n)
  • 88.36 (a)
Lfng 16
Lfng 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LFNG 35
  • 98.94 (n)
  • 98.68 (a)
LFNG 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lfng 35
  • 85.45 (n)
  • 89.42 (a)
oppossum
(Monodelphis domestica)
Mammalia LFNG 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LFNG 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves LFNG 35
  • 78.81 (n)
  • 76.49 (a)
LFNG 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LFNG 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lfng 35
  • 69.5 (n)
  • 72.88 (a)
Str.16143 35
African clawed frog
(Xenopus laevis)
Amphibia LOC397855 35
zebrafish
(Danio rerio)
Actinopterygii lfng 35
  • 70.81 (n)
  • 74.16 (a)
lfng 36
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fng 37
  • 46 (a)
fng 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
ManyToMany
-- 36
  • 44 (a)
ManyToMany
-- 36
  • 42 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
-- 36
  • 38 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
-- 36
  • 34 (a)
ManyToMany
-- 36
  • 34 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
-- 36
  • 33 (a)
ManyToMany
-- 36
  • 39 (a)
ManyToMany
-- 36
  • 39 (a)
ManyToMany
-- 36
  • 41 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
-- 36
  • 43 (a)
ManyToMany
Species with no ortholog for LFNG:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LFNG Gene

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

Paralogs for LFNG Gene

Paralogs for LFNG Gene

(2) SIMAP similar genes for LFNG Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with LFNG: view

Variants for LFNG Gene

Sequence variations from dbSNP and Humsavar for LFNG Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_025850 Spondylocostal dysostosis 3, autosomal recessive (SCDO3)
VAR_046785 -
VAR_046786 -
rs2895 -- 2,529,136(-) TAAAA(A/G)ACAAG utr-variant-3-prime
rs750280 -- 2,511,079(-) GGCAG(C/T)GGGCG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LFNG Gene

Variant ID Type Subtype PubMed ID
dgv7116n71 CNV Loss 21882294
dgv7117n71 CNV Loss 21882294
nsv471216 CNV Loss 18288195
dgv7118n71 CNV Loss 21882294
dgv7119n71 CNV Loss 21882294
nsv830887 CNV Loss 17160897
nsv823981 CNV Gain 20364138
dgv7120n71 CNV Loss 21882294
nsv887297 CNV Loss 21882294
esv2733856 CNV Deletion 23290073
esv5169 CNV Duplication 18987735
esv2575091 CNV Insertion 19546169
nsv887298 CNV Loss 21882294
esv2733857 CNV Deletion 23290073

Variation tolerance for LFNG Gene

Residual Variation Intolerance Score: 81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LFNG Gene

HapMap Linkage Disequilibrium report
LFNG
Human Gene Mutation Database (HGMD)
LFNG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LFNG Gene

Disorders for LFNG Gene

MalaCards: The human disease database

(6) MalaCards diseases for LFNG Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondylocostal dysostosis 3, autosomal recessive
  • spondylocostal dysostosis, autosomal recessive 3
spondylocostal dysostosis, autosomal recessive
  • jarcho-levin syndrome
lfng-related spondylocostal dysostosis, autosomal recessive
  • spondylocostal dysostosis, autosomal recessive 3
spondylocostal dysostosis 3
  • spondylocostal dysostosis 3, autosomal recessive
spondylocostal dysostosis
  • jarcho-levin syndrome
- elite association - COSMIC cancer census association via MalaCards
Search LFNG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LFNG_HUMAN
  • Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813]: A 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. {ECO:0000269 PubMed:16385447}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LFNG

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LFNG
genes like me logo Genes that share disorders with LFNG: view

No data available for Genatlas for LFNG Gene

Publications for LFNG Gene

  1. A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway. (PMID: 9187150) Johnston S.H. … Vogt T.F. (Development 1997) 2 3 4 67
  2. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. (PMID: 16385447) Sparrow D.B. … Dunwoodie S.L. (Am. J. Hum. Genet. 2006) 3 23
  3. Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12. (PMID: 9878264) Egan S. … Scherer S.W. (Genomics 1998) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Tumor-suppressive activity of Lunatic Fringe in prostate through differential modulation of Notch receptor activation. (PMID: 24709423) Zhang S. … Xu K. (Neoplasia 2014) 3

Products for LFNG Gene

Sources for LFNG Gene

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