Gene Gene information from NCBI Gene database.
Entrez ID 3955
Gene name LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Gene symbol LFNG
Synonyms (NCBI Gene)
SCDO3
Chromosome 7
Chromosome location 7p22.3
Summary This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling p
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1562551396 G>- Pathogenic Coding sequence variant, intron variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
306
miRTarBase ID miRNA Experiments Reference
MIRT018104 hsa-miR-335-5p Microarray 18185580
MIRT021806 hsa-miR-132-3p Microarray 17612493
MIRT025038 hsa-miR-181a-5p Microarray 17612493
MIRT437807 hsa-miR-125a-5p Luciferase reporter assay 23484856
MIRT618188 hsa-miR-329-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001541 Process Ovarian follicle development IEA
GO:0001756 Process Somitogenesis IEA
GO:0001756 Process Somitogenesis ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602576 6560 ENSG00000106003
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NES3
Protein name Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe (EC 2.4.1.222) (O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase)
Protein function Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02434 Fringe 108 358 Fringe-like Family
Sequence
Sequence length 379
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Other types of O-glycan biosynthesis
Notch signaling pathway
Human papillomavirus infection
  Defective LFNG causes SCDO3
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
217
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spondylocostal dysostosis 2, autosomal recessive Pathogenic rs104894024 RCV002269818
Spondylocostal dysostosis 3, autosomal recessive Pathogenic; Likely pathogenic rs1779898374, rs2534228779, rs104894024, rs1413169361, rs1211456697, rs1562551396 RCV002760998
RCV002890013
RCV000007414
RCV004515773
RCV000758081
RCV000758082
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Uncertain significance rs199745512 RCV005925638
LFNG-related disorder Likely benign; Benign; Uncertain significance rs151053753, rs767338996, rs201724400, rs141008352, rs770507072, rs143245520, rs143318387, rs369407612, rs115678269, rs142596712, rs369411514 RCV003963266
RCV003948507
RCV003973563
RCV003891883
RCV003977793
RCV003939016
RCV003966496
RCV003939290
RCV003945618
RCV003928629
RCV003908426
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 39519104
Carcinoma Pancreatic Ductal Associate 33562410
Cognition Disorders Associate 35954202
COVID 19 Associate 35885892
Cystic Fibrosis Associate 35954202
Dysostoses Associate 16385447
Exocrine Pancreatic Insufficiency Associate 35954202
HEM dysplasia Associate 30196550
Hypersensitivity Immediate Associate 27888801
Jarcho Levin syndrome Associate 16385447, 30196550, 40225152