Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3955
Gene name Gene Name - the full gene name approved by the HGNC.
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LFNG
Synonyms (NCBI Gene) Gene synonyms aliases
SCDO3
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs1562551396 G>- Pathogenic Coding sequence variant, intron variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602576 6560 ENSG00000106003
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
spondylocostal dysostosis Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 2, autosomal recessive rs104894024, rs1211456697, rs1562551396 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertension Hypertension N/A N/A GWAS
Associations from Text Mining Disease 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