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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5986
Gene name	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Gene symbol	RFNG
Synonyms (NCBI Gene)	-
Chromosome	17
Chromosome location	17q25.3

Show/Hide all (59)

miRTarBase ID	miRNA	Experiments
MIRT1301922	hsa-miR-1254	CLIP-seq
MIRT1301923	hsa-miR-1269	CLIP-seq
MIRT1301924	hsa-miR-1269b	CLIP-seq
MIRT1301925	hsa-miR-1288	CLIP-seq
MIRT1301926	hsa-miR-3116	CLIP-seq
MIRT1301927	hsa-miR-3192	CLIP-seq
MIRT1301928	hsa-miR-3197	CLIP-seq
MIRT1301929	hsa-miR-3690	CLIP-seq
MIRT1301930	hsa-miR-378	CLIP-seq
MIRT1301931	hsa-miR-378b	CLIP-seq
MIRT1301932	hsa-miR-378c	CLIP-seq
MIRT1301933	hsa-miR-378d	CLIP-seq
MIRT1301934	hsa-miR-378e	CLIP-seq
MIRT1301935	hsa-miR-378f	CLIP-seq
MIRT1301936	hsa-miR-378h	CLIP-seq
MIRT1301937	hsa-miR-378i	CLIP-seq
MIRT1301938	hsa-miR-422a	CLIP-seq
MIRT1301939	hsa-miR-4300	CLIP-seq
MIRT1301940	hsa-miR-4515	CLIP-seq
MIRT1301941	hsa-miR-4740-5p	CLIP-seq
MIRT1301942	hsa-miR-566	CLIP-seq
MIRT1301943	hsa-miR-920	CLIP-seq
MIRT1301922	hsa-miR-1254	CLIP-seq
MIRT1301923	hsa-miR-1269	CLIP-seq
MIRT1301924	hsa-miR-1269b	CLIP-seq
MIRT1301925	hsa-miR-1288	CLIP-seq
MIRT2089591	hsa-miR-1302	CLIP-seq
MIRT1301926	hsa-miR-3116	CLIP-seq
MIRT1301927	hsa-miR-3192	CLIP-seq
MIRT1301928	hsa-miR-3197	CLIP-seq
MIRT1301929	hsa-miR-3690	CLIP-seq
MIRT1301930	hsa-miR-378	CLIP-seq
MIRT1301931	hsa-miR-378b	CLIP-seq
MIRT1301932	hsa-miR-378c	CLIP-seq
MIRT1301933	hsa-miR-378d	CLIP-seq
MIRT1301934	hsa-miR-378e	CLIP-seq
MIRT1301935	hsa-miR-378f	CLIP-seq
MIRT1301936	hsa-miR-378h	CLIP-seq
MIRT1301937	hsa-miR-378i	CLIP-seq
MIRT1301938	hsa-miR-422a	CLIP-seq
MIRT2089592	hsa-miR-4298	CLIP-seq
MIRT1301939	hsa-miR-4300	CLIP-seq
MIRT1301940	hsa-miR-4515	CLIP-seq
MIRT2089593	hsa-miR-4733-3p	CLIP-seq
MIRT1301941	hsa-miR-4740-5p	CLIP-seq
MIRT1301942	hsa-miR-566	CLIP-seq
MIRT2089594	hsa-miR-661	CLIP-seq
MIRT2089595	hsa-miR-760	CLIP-seq
MIRT1301943	hsa-miR-920	CLIP-seq
MIRT2314553	hsa-miR-4755-3p	CLIP-seq
MIRT2314554	hsa-miR-4763-5p	CLIP-seq
MIRT2393644	hsa-miR-4645-5p	CLIP-seq
MIRT2393645	hsa-miR-4673	CLIP-seq
MIRT2458072	hsa-miR-4292	CLIP-seq
MIRT2458073	hsa-miR-4514	CLIP-seq
MIRT2393644	hsa-miR-4645-5p	CLIP-seq
MIRT2393645	hsa-miR-4673	CLIP-seq
MIRT2458074	hsa-miR-4692	CLIP-seq
MIRT2314553	hsa-miR-4755-3p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005576	Component	Extracellular region	NAS	10341080
GO:0005794	Component	Golgi apparatus	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007399	Process	Nervous system development	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:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0033829	Function	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IBA
GO:0033829	Function	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IEA
GO:0033829	Function	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	ISS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
602578	9974	ENSG00000169733

Q9Y644

Protein name

Beta-1,3-N-acetylglucosaminyltransferase radical 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	53 → 305	Fringe-like	Family

Sequence

MSRARGALCRACLALAAALAALLLLPLPLPRAPAPARTPAPAPRAPPSRPAAPSLRPDDV
FIAVKTTRKNHGPRLRLLLRTWISRARQQTFIFTDGDDPELELQGGDRVINTNCSAVRTR
QALCCKMSVEYDKFIESGRKWFCHVDDDNYVNARSLLHLLSSFSPSQDVYLGRPSLDHPI
EATERVQGGRTVTTVKFWFATGGAGFCLSRGLALKMSPWASLGSFMSTAEQVRLPDDCTV
GYIVEGLLGARLLHSPLFHSHLENLQRLPPDTLLQQVTLSHGGPENPHNVVNVAGGFSLH
QDPTRFKSIHCLLYPDTDWCPRQKQGAPTSR

Sequence length

331

Interactions

View interactions

	KEGG
	Other types of O-glycan biosynthesis Notch signaling pathway Human papillomavirus infection

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 Unknown Diseases (2)

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.
DRY EYE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Renal Cell	Associate	26339402	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Associate	26154020	★★★★★ ★☆☆☆☆ Found in Text Mining only

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