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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LFNG
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Chromosome 7 Β· 7p22.3
NCBI Gene: 3955Ensembl: ENSG00000106003.14HGNC: HGNC:6560UniProt: Q8NES3
30PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of somitogenesisextracellular vesicleO-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activitysomitogenesisautosomal recessive spondylocostal dysostosisspondylocostal dysostosisneurodegenerative diseasebenign prostatic hyperplasia
✦AI Summary

LFNG (Lunatic Fringe) is an O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase that modulates Notch signaling through glycosylation of O-linked fucose residues on EGF-like repeats in Notch extracellular domains 1. LFNG specifically inhibits NOTCH1 activation by JAG1 while enhancing activation by DLL1, and decreases JAG1 binding to NOTCH2 2. The enzyme is essential for somite segmentation and patterning during development 3. Bi-allelic LFNG loss-of-function variants cause spondylocostal dysostosis 3 (SCDO), characterized by vertebral and rib segmentation defects 4. The mutational spectrum includes coding and non-coding variants across LFNG exons 3. Beyond developmental roles, LFNG has significant oncogenic functions. High LFNG expression associates with poor prognosis across multiple cancer types, particularly pancreatic adenocarcinoma 5. In pancreatic cancer, Lfng-expressing centroacinar cells are preferentially targeted by oncogenic Kras and p53 mutations; LFNG deletion blocks tumor initiation, and LFNG upregulation promotes progression 6. In hepatoblastoma, LFNG overexpression promotes cell migration and invasion through immune microenvironment modulation 7. LFNG deletion in breast cancer promotes deregulated Notch activation and Met amplification in basal-like tumors 8.

Sources cited
1
LFNG is an O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase that modulates Notch glycosylation and is mutated in spondylocostal dysostosis 3
PMID: 33341260
2
LFNG decreases JAG1 binding to NOTCH2 but not DLL1 binding
PMID: 11346656
3
LFNG is essential for somite segmentation; bi-allelic LFNG variants cause spondylocostal dysostosis 3; variants include both coding and non-coding mutations
PMID: 37038048
4
LFNG loss-of-function variants cause vertebral and rib segmentation defects characteristic of spondylocostal dysostosis
PMID: 38565611
5
High LFNG expression associates with poor overall survival in multiple cancer types, particularly pancreatic adenocarcinoma; LFNG overexpression promotes pancreatic cancer cell proliferation and invasion
PMID: 37932706
6
Lfng-expressing centroacinar cells are preferentially transformed by oncogenic Kras and p53 mutations; LFNG deletion blocks tumor initiation and its upregulation promotes PDAC progression
PMID: 39548190
7
LFNG overexpression promotes hepatoblastoma cell migration and invasion through immune microenvironment modulation
PMID: 40499700
8
LFNG deletion in breast cancer promotes deregulated Notch activation and induces basal-like and claudin-low tumors with Met amplification
PMID: 24556651
Disease Associationsβ“˜21
autosomal recessive spondylocostal dysostosisOpen Targets
0.77Strong
spondylocostal dysostosisOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
benign prostatic hyperplasiaOpen Targets
0.33Weak
heart conduction diseaseOpen Targets
0.33Weak
cardiac arrestOpen Targets
0.31Weak
nevusOpen Targets
0.28Weak
hamartomaOpen Targets
0.27Weak
non-neoplastic nevusOpen Targets
0.27Weak
cardiovascular diseaseOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
hypertensionOpen Targets
0.15Weak
Increased blood pressureOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.08Suggestive
age-related macular degenerationOpen Targets
0.08Suggestive
spondylocostal dysostosis 2, autosomal recessiveOpen Targets
0.07Suggestive
spondylocostal dysostosis 5Open Targets
0.07Suggestive
essential hypertensionOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
spondylocostal dysostosis 1, autosomal recessiveOpen Targets
0.06Suggestive
Spondylocostal dysostosis 3, autosomal recessiveUniProt
Pathogenic Variants9
NM_001166355.2(LFNG):c.55C>T (p.Gln19Ter)Pathogenic
Fetal anomalies with a likely genetic cause
β˜…β˜†β˜†β˜†2026β†’ Residue 19
NM_001040167.2(LFNG):c.736-2A>GLikely pathogenic
Spondylocostal dysostosis 3, autosomal recessive
β˜…β˜†β˜†β˜†2024
NM_001040167.2(LFNG):c.434C>T (p.Thr145Met)Likely pathogenic
Spondylocostal dysostosis 3, autosomal recessive
β˜…β˜†β˜†β˜†2024β†’ Residue 145
NM_001040167.2(LFNG):c.987+1G>ALikely pathogenic
Spondylocostal dysostosis 3, autosomal recessive
β˜…β˜†β˜†β˜†2024
NM_001040167.2(LFNG):c.216_217del (p.His72fs)Pathogenic
Spondylocostal dysostosis 3, autosomal recessive
β˜…β˜†β˜†β˜†2022β†’ Residue 72
NM_001040167.2(LFNG):c.443dup (p.Thr149fs)Pathogenic
Spondylocostal dysostosis 3, autosomal recessive
β˜…β˜†β˜†β˜†2022β†’ Residue 149
NM_001040167.2(LFNG):c.601G>A (p.Asp201Asn)Pathogenic
Spondylocostal dysostosis 3, autosomal recessive
β˜†β˜†β˜†β˜†2019β†’ Residue 201
NM_001040167.2(LFNG):c.372del (p.Lys124fs)Pathogenic
Spondylocostal dysostosis 3, autosomal recessive
β˜†β˜†β˜†β˜†2019β†’ Residue 124
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)Pathogenic
Spondylocostal dysostosis 3, autosomal recessive|Spondylocostal dysostosis 2, autosomal recessive
β˜†β˜†β˜†β˜†2006β†’ Residue 188
View on ClinVar β†—
Related Genes
NOTCH1Protein interaction100%NOTCH3Protein interaction100%NOTCH2Protein interaction100%NOTCH4Protein interaction100%DLL1Protein interaction94%MESP2Protein interaction86%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
88%
Heart
76%
Lung
56%
Liver
11%
Ovary
6%
Gene Interaction Network
Click a node to explore
LFNGNOTCH1NOTCH3NOTCH2NOTCH4DLL1MESP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NES3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.76LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.49 [0.33–0.76]
RankingsWhere LFNG stands among ~20K protein-coding genes
  • #11,957of 20,598
    Most Researched30
  • #2,991of 5,498
    Most Pathogenic Variants9
  • #6,019of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedLFNG
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Rational design of a Lfng-enhancer AAV construct drives specific and efficient gene expression in inner ear supporting cells.
PMID: 39889630
Hear Res Β· 2025
1.00
2
Lfng-expressing centroacinar cell is a unique cell-of-origin for p53 deficient pancreatic cancer.
PMID: 39548190
Oncogene Β· 2025
0.90
3
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.
PMID: 38565611
J Hum Genet Β· 2024
0.80
4
Exploring the role of LFNG in hepatoblastoma using multiomics and raise a query in proof link.
PMID: 40499700
Gene Β· 2025
0.70
5
A pan-cancer analysis revealing the role of LFNG, MFNG and RFNG in tumor prognosis and microenvironment.
PMID: 37932706
BMC Cancer Β· 2023
0.60