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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5986

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

Fringe: Fringe-like (55 - 305)

  • 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

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
Others RFNG NCBI