Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1562551396	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant

306

Show/Hide all (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
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT667654	hsa-miR-3622a-5p	HITS-CLIP	23824327
MIRT667653	hsa-miR-4269	HITS-CLIP	23824327
MIRT667652	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT667651	hsa-miR-564	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT618188	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT618188	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT618185	hsa-miR-4253	HITS-CLIP	23824327
MIRT618184	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT487173	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT487172	hsa-miR-548p	PAR-CLIP	23592263
MIRT487171	hsa-miR-545-3p	PAR-CLIP	23592263
MIRT487169	hsa-miR-3663-3p	PAR-CLIP	23592263
MIRT487170	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT487168	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT487167	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT487166	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT487165	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT487164	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT487163	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT618188	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT667654	hsa-miR-3622a-5p	HITS-CLIP	23824327
MIRT667653	hsa-miR-4269	HITS-CLIP	23824327
MIRT667652	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT667651	hsa-miR-564	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT618188	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT618188	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT618187	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT618186	hsa-miR-603	HITS-CLIP	23824327
MIRT618185	hsa-miR-4253	HITS-CLIP	23824327
MIRT618184	hsa-miR-6862-5p	HITS-CLIP	23824327
MIRT618183	hsa-miR-3941	HITS-CLIP	23824327
MIRT487173	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT487172	hsa-miR-548p	PAR-CLIP	23592263
MIRT487171	hsa-miR-545-3p	PAR-CLIP	23592263
MIRT487169	hsa-miR-3663-3p	PAR-CLIP	23592263
MIRT487170	hsa-miR-548aj-5p	PAR-CLIP	23592263
MIRT487168	hsa-miR-548f-5p	PAR-CLIP	23592263
MIRT487167	hsa-miR-548g-5p	PAR-CLIP	23592263
MIRT487166	hsa-miR-548x-5p	PAR-CLIP	23592263
MIRT487165	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT487164	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT487163	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108129	hsa-miR-1276	CLIP-seq
MIRT1108130	hsa-miR-1298	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108133	hsa-miR-204	CLIP-seq
MIRT1108134	hsa-miR-211	CLIP-seq
MIRT1108135	hsa-miR-27a	CLIP-seq
MIRT1108136	hsa-miR-27b	CLIP-seq
MIRT1108137	hsa-miR-296-5p	CLIP-seq
MIRT1108138	hsa-miR-3124-3p	CLIP-seq
MIRT1108139	hsa-miR-3685	CLIP-seq
MIRT1108140	hsa-miR-3689d	CLIP-seq
MIRT1108141	hsa-miR-384	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108144	hsa-miR-4265	CLIP-seq
MIRT1108145	hsa-miR-4296	CLIP-seq
MIRT1108146	hsa-miR-4311	CLIP-seq
MIRT1108147	hsa-miR-4315	CLIP-seq
MIRT1108148	hsa-miR-4318	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108150	hsa-miR-4322	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108152	hsa-miR-4417	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT1108154	hsa-miR-4459	CLIP-seq
MIRT1108155	hsa-miR-450b-5p	CLIP-seq
MIRT1108156	hsa-miR-4649-5p	CLIP-seq
MIRT1108157	hsa-miR-4672	CLIP-seq
MIRT1108158	hsa-miR-4706	CLIP-seq
MIRT1108159	hsa-miR-4731-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108161	hsa-miR-4749-5p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108163	hsa-miR-4781-5p	CLIP-seq
MIRT1108164	hsa-miR-4790-5p	CLIP-seq
MIRT1108165	hsa-miR-4792	CLIP-seq
MIRT1108166	hsa-miR-511	CLIP-seq
MIRT1108167	hsa-miR-518a-5p	CLIP-seq
MIRT1108168	hsa-miR-527	CLIP-seq
MIRT1108169	hsa-miR-545	CLIP-seq
MIRT1108170	hsa-miR-552	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108172	hsa-miR-623	CLIP-seq
MIRT1108173	hsa-miR-654-3p	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT1108175	hsa-miR-765	CLIP-seq
MIRT1108176	hsa-miR-885-3p	CLIP-seq
MIRT1108177	hsa-miR-1203	CLIP-seq
MIRT1108178	hsa-miR-1225-3p	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108179	hsa-miR-1270	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108180	hsa-miR-185	CLIP-seq
MIRT1108135	hsa-miR-27a	CLIP-seq
MIRT1108136	hsa-miR-27b	CLIP-seq
MIRT1108181	hsa-miR-2964a-3p	CLIP-seq
MIRT1108182	hsa-miR-3150b-3p	CLIP-seq
MIRT1108183	hsa-miR-3157-3p	CLIP-seq
MIRT1108184	hsa-miR-331-3p	CLIP-seq
MIRT1108185	hsa-miR-361-3p	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108186	hsa-miR-3940-3p	CLIP-seq
MIRT1108187	hsa-miR-3973	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108144	hsa-miR-4265	CLIP-seq
MIRT1108145	hsa-miR-4296	CLIP-seq
MIRT1108188	hsa-miR-4306	CLIP-seq
MIRT1108146	hsa-miR-4311	CLIP-seq
MIRT1108148	hsa-miR-4318	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108150	hsa-miR-4322	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108152	hsa-miR-4417	CLIP-seq
MIRT1108155	hsa-miR-450b-5p	CLIP-seq
MIRT1108189	hsa-miR-4531	CLIP-seq
MIRT1108190	hsa-miR-4644	CLIP-seq
MIRT1108156	hsa-miR-4649-5p	CLIP-seq
MIRT1108191	hsa-miR-4668-3p	CLIP-seq
MIRT1108192	hsa-miR-4684-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108193	hsa-miR-4784	CLIP-seq
MIRT1108166	hsa-miR-511	CLIP-seq
MIRT1108167	hsa-miR-518a-5p	CLIP-seq
MIRT1108168	hsa-miR-527	CLIP-seq
MIRT1108169	hsa-miR-545	CLIP-seq
MIRT1108194	hsa-miR-548c-3p	CLIP-seq
MIRT1108195	hsa-miR-562	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108196	hsa-miR-620	CLIP-seq
MIRT1108173	hsa-miR-654-3p	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT1108197	hsa-miR-874	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108130	hsa-miR-1298	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108133	hsa-miR-204	CLIP-seq
MIRT1108134	hsa-miR-211	CLIP-seq
MIRT1108138	hsa-miR-3124-3p	CLIP-seq
MIRT1108139	hsa-miR-3685	CLIP-seq
MIRT1108141	hsa-miR-384	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108147	hsa-miR-4315	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108164	hsa-miR-4790-5p	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108172	hsa-miR-623	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108130	hsa-miR-1298	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108133	hsa-miR-204	CLIP-seq
MIRT1108134	hsa-miR-211	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108172	hsa-miR-623	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108179	hsa-miR-1270	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108180	hsa-miR-185	CLIP-seq
MIRT1108135	hsa-miR-27a	CLIP-seq
MIRT1108136	hsa-miR-27b	CLIP-seq
MIRT1108138	hsa-miR-3124-3p	CLIP-seq
MIRT1108182	hsa-miR-3150b-3p	CLIP-seq
MIRT2029909	hsa-miR-3177-3p	CLIP-seq
MIRT2029910	hsa-miR-329	CLIP-seq
MIRT2029911	hsa-miR-3670	CLIP-seq
MIRT1108139	hsa-miR-3685	CLIP-seq
MIRT1108141	hsa-miR-384	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108144	hsa-miR-4265	CLIP-seq
MIRT1108145	hsa-miR-4296	CLIP-seq
MIRT1108188	hsa-miR-4306	CLIP-seq
MIRT1108148	hsa-miR-4318	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108150	hsa-miR-4322	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108152	hsa-miR-4417	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT1108189	hsa-miR-4531	CLIP-seq
MIRT1108190	hsa-miR-4644	CLIP-seq
MIRT1108156	hsa-miR-4649-5p	CLIP-seq
MIRT2029912	hsa-miR-4663	CLIP-seq
MIRT1108192	hsa-miR-4684-5p	CLIP-seq
MIRT2029913	hsa-miR-4728-3p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108193	hsa-miR-4784	CLIP-seq
MIRT1108165	hsa-miR-4792	CLIP-seq
MIRT1108169	hsa-miR-545	CLIP-seq
MIRT1108170	hsa-miR-552	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108196	hsa-miR-620	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT2029914	hsa-miR-939	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108130	hsa-miR-1298	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108133	hsa-miR-204	CLIP-seq
MIRT1108134	hsa-miR-211	CLIP-seq
MIRT1108137	hsa-miR-296-5p	CLIP-seq
MIRT1108182	hsa-miR-3150b-3p	CLIP-seq
MIRT2029909	hsa-miR-3177-3p	CLIP-seq
MIRT2260776	hsa-miR-3192	CLIP-seq
MIRT2029910	hsa-miR-329	CLIP-seq
MIRT2260777	hsa-miR-3667-3p	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108144	hsa-miR-4265	CLIP-seq
MIRT2260778	hsa-miR-4286	CLIP-seq
MIRT1108145	hsa-miR-4296	CLIP-seq
MIRT1108146	hsa-miR-4311	CLIP-seq
MIRT1108148	hsa-miR-4318	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108150	hsa-miR-4322	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108152	hsa-miR-4417	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT2260779	hsa-miR-4487	CLIP-seq
MIRT1108155	hsa-miR-450b-5p	CLIP-seq
MIRT1108156	hsa-miR-4649-5p	CLIP-seq
MIRT1108192	hsa-miR-4684-5p	CLIP-seq
MIRT2260780	hsa-miR-4691-5p	CLIP-seq
MIRT1108158	hsa-miR-4706	CLIP-seq
MIRT2260781	hsa-miR-4719	CLIP-seq
MIRT1108159	hsa-miR-4731-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108161	hsa-miR-4749-5p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108163	hsa-miR-4781-5p	CLIP-seq
MIRT1108193	hsa-miR-4784	CLIP-seq
MIRT1108165	hsa-miR-4792	CLIP-seq
MIRT2260782	hsa-miR-500a	CLIP-seq
MIRT1108166	hsa-miR-511	CLIP-seq
MIRT1108167	hsa-miR-518a-5p	CLIP-seq
MIRT1108168	hsa-miR-527	CLIP-seq
MIRT1108170	hsa-miR-552	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108172	hsa-miR-623	CLIP-seq
MIRT1108173	hsa-miR-654-3p	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq
MIRT1108128	hsa-miR-125b	CLIP-seq
MIRT1108130	hsa-miR-1298	CLIP-seq
MIRT1108131	hsa-miR-146a	CLIP-seq
MIRT1108132	hsa-miR-146b-5p	CLIP-seq
MIRT1108133	hsa-miR-204	CLIP-seq
MIRT1108134	hsa-miR-211	CLIP-seq
MIRT1108138	hsa-miR-3124-3p	CLIP-seq
MIRT2390091	hsa-miR-3180-5p	CLIP-seq
MIRT1108139	hsa-miR-3685	CLIP-seq
MIRT1108141	hsa-miR-384	CLIP-seq
MIRT1108142	hsa-miR-3938	CLIP-seq
MIRT1108143	hsa-miR-4251	CLIP-seq
MIRT1108147	hsa-miR-4315	CLIP-seq
MIRT1108149	hsa-miR-4319	CLIP-seq
MIRT1108151	hsa-miR-4324	CLIP-seq
MIRT1108153	hsa-miR-4446-5p	CLIP-seq
MIRT1108160	hsa-miR-4732-3p	CLIP-seq
MIRT1108162	hsa-miR-4755-5p	CLIP-seq
MIRT1108164	hsa-miR-4790-5p	CLIP-seq
MIRT2390092	hsa-miR-520a-5p	CLIP-seq
MIRT2390093	hsa-miR-525-5p	CLIP-seq
MIRT1108171	hsa-miR-589	CLIP-seq
MIRT1108172	hsa-miR-623	CLIP-seq
MIRT1108174	hsa-miR-670	CLIP-seq

Show/Hide all (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
GO:0002315	Process	Marginal zone B cell differentiation	IEA
GO:0002315	Process	Marginal zone B cell differentiation	ISS
GO:0005576	Component	Extracellular region	NAS	10341080
GO:0005794	Component	Golgi apparatus	IEA
GO:0007386	Process	Compartment pattern specification	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0008593	Process	Regulation of Notch signaling pathway	IBA
GO:0008593	Process	Regulation of Notch signaling pathway	IEA
GO:0008593	Process	Regulation of Notch signaling pathway	ISS
GO:0009887	Process	Animal organ morphogenesis	NAS	10341080
GO:0014807	Process	Regulation of somitogenesis	IEA
GO:0014807	Process	Regulation of somitogenesis	IMP	19061953
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030217	Process	T cell differentiation	IEA
GO:0030217	Process	T cell differentiation	ISS
GO:0033829	Function	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IBA
GO:0033829	Function	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IDA	10935626
GO:0033829	Function	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IEA
GO:0033829	Function	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	ISS
GO:0033829	Function	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	TAS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051446	Process	Positive regulation of meiotic cell cycle	IEA
GO:1902367	Process	Negative regulation of Notch signaling pathway involved in somitogenesis	IEA
GO:1902367	Process	Negative regulation of Notch signaling pathway involved in somitogenesis	ISS
GO:1903561	Component	Extracellular vesicle	HDA	24769233

MIM	HGNC	e!Ensembl
602576	6560	ENSG00000106003

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

MLKRCGRRLLLALAGALLACLLVLTADPPPPPLPAERGRRALRSLAGPAGAAPAPGLGAA
AAAPGALVRDVHSLSEYFSLLTRARRDAGPPPGAAPRPADGHPRPLAEPLAPRDVFIAVK
TTKKFHRARLDLLLETWISRHKEMTFIFTDGEDEALARHTGNVVITNCSAAHSRQALSCK
MAVEYDRFIESGRKWFCHVDDDNYVNLRALLRLLASYPHTRDVYVGKPSLDRPIQAMERV
SENKVRPVHFWFATGGAGFCISRGLALKMSPWASGGHFMNTAERIRLPDDCTIGYIVEAL
LGVPLIRSGLFHSHLENLQQVPTSELHEQVTLSYGMFENKRNAVHVKGPFSVEADPSRFR
SIHCHLYPDTPWCPRTAIF

Sequence length

379

Interactions

View interactions

	KEGG		Reactome
	Other types of O-glycan biosynthesis Notch signaling pathway Human papillomavirus infection		Defective LFNG causes SCDO3

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spondylocostal dysostosis 2, autosomal recessive	Pathogenic	rs104894024	RCV002269818	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylocostal dysostosis 3, autosomal recessive	Pathogenic; Likely pathogenic	rs1779898374, rs2534228779, rs104894024, rs1413169361, rs1211456697, rs1562551396	RCV002760998 RCV002890013 RCV000007414 RCV004515773 RCV000758081 RCV000758082 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JARCHO-LEVIN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LFNG-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (41)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia, Sickle Cell	Anemia	BEFREE	30196550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	39519104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spondylocostal dysostosis	Spondylocostal Dysostosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33562410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35954202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	35954202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysostoses	Dysostoses	LHGDN	16385447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysostoses	Dysphoric mood	Pubtator	16385447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	27888801	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jarcho-Levin syndrome	Jarcho-Levin Syndrome	BEFREE	30196550, 30531807		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jarcho-Levin syndrome	Jarcho-Levin Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jarcho-Levin syndrome	Jarcho-Levin Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27869176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22624713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27311960	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	30196550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27869176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Venous Return Anomaly	Pulmonary Venous Return Anomaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	30196550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	30196550, 40225152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	30196550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	30196550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2	Spondylocostal Dysostosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3	Spondylocostal Dysostosis	UNIPROT_DG	16385447		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3	Spondylocostal Dysostosis	GENOMICS_ENGLAND_DG	16385447, 27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3	Spondylocostal Dysostosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3	Spondylocostal Dysostosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase)