RFNG - RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Gene

Homo sapiens

Gene ID: 5986 | Gene type: protein coding

About RFNG

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:82,047,902-82,051,811 (from NCBI)

This gene has 12 transcripts (splice variants), 215 orthologues and 3 paralogues. Ubiquitous expression in ovary (RPKM 13.6), fat (RPKM 12.9) and 25 other tissues.

Summary

Predicted to enable O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity. Predicted to be involved in regulation of Notch signaling pathway. Predicted to act upstream of or within positive regulation of Notch signaling pathway and positive regulation of protein binding activity. Predicted to be integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]

RFNG Products(1)

mRNA	Protein	Name
NM_002917.2	NP_002908.1	beta-1,3-N-acetylglucosaminyltransferase radical fringe precursor

RFNG Protein Structure

Fringe

0
100
200
300
331 a.a.

Protein Preferred Names

Protein Names

beta-1,3-N-acetylglucosaminyltransferase radical fringe

O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Related Diseases

Diseases

Alias

Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11	Mddga11
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11

Spondylocostal Dysostosis

Jarcho-Levin Syndrome	Costovertebral Dysplasia
Spondylothoracic Dysostosis	Spondylothoracic Dysplasia
Scdo	Dysostosis, Spondylocostal

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures	Dark Dot Disease
Reticulate Acropigmentation Of Kitamura	Dowling-Degos Kitamura Disease
Kitamura Reticulate Acropigmentation	Ddd
Dowling-Degos-Kitamura Disease	Reticular Pigmented Anomaly Of Flexures

Adams-Oliver Syndrome

Adams Oliver Syndrome	Aos
Congenital Scalp Defects With Distal Limb Reduction Anomalies	Aplasia Cutis Congenita With Terminal Transverse Limb Defects
Congenital Scalp Defects With Distal Limb Anomalies	Limb, Scalp And Skull Defects
Limb Scalp And Skull Defects	Absence Defect Of Limbs, Scalp, And Skull

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11875	RFNG Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RFNG	VGNC	VGNC:69299
Rattus norvegicus	RFNG	RGD	RGD:621322
Canis familiaris	RFNG	VGNC	VGNC:45499
Macaca mulatta	RFNG	VGNC	VGNC:76905
Mus musculus	RFNG	MGD	MGI:894275
Bos taurus	RFNG	VGNC	VGNC:55866