RFNG
Identifiers
Aliases	RFNG, RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase, Radical Fringe gene
External IDs	OMIM: 602578 MGI: 894275 HomoloGene: 56433 GeneCards: RFNG
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 82,047,902 bp[1] End 82,051,831 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 E2|11 84.53 cM Start 120,671,572 bp[2] End 120,675,033 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver stromal cell of endometrium body of pancreas anterior pituitary right uterine tube canal of the cervix body of stomach tibial nerve gastrocnemius muscle left uterine tube Top expressed in entorhinal cortex fossa condyle substantia nigra Paneth cell motor neuron superior frontal gyrus cerebellar cortex internal carotid artery proximal tubule More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity metal ion binding glycosyltransferase activity molecular function acetylglucosaminyltransferase activity Cellular component integral component of membrane extracellular region integral component of Golgi membrane Golgi membrane Golgi apparatus membrane Biological process animal organ morphogenesis pattern specification process multicellular organism development cell differentiation positive regulation of protein binding nervous system development positive regulation of Notch signaling pathway regulation of Notch signaling pathway protein O-linked fucosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5986 19719 Ensembl ENSG00000169733 ENSMUSG00000025158 UniProt Q9Y644 O09009 RefSeq (mRNA) NM_002917 NM_009053 RefSeq (protein) NP_002908 NP_033079 Location (UCSC) Chr 17: 82.05 – 82.05 Mb Chr 11: 120.67 – 120.68 Mb PubMed search [3] [4]
Wikidata
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Beta-1,3-N-acetylglucosaminyltransferase radical fringe, also known as radical fringe is a protein that in humans is encoded by the RFNG gene. Radical fringe is a signaling enzyme involved in the arrangement of the embryonic limb buds. It is a member of the fringe gene family, which also includes manic fringe and lunatic fringe. It is important for the dorsoventrally patterning of the limb and has been implicated in the formation of the apical ectodermal ridge (AER). The AER is essential for the distal patterning of the limb. Experiments executed in chicken models show Radical fringe is expressed in both the dorsal ectoderm and the AER. This provides evidence that the AER forms from cells already expressing radical fringe, though further evidence is needed to confirm. Grafting experiments have shown that formation of the AER comes from signals in the limb bud mesoderm. However, radical fringe acts as a permissive signal to create a boundary for the AER to form. The knockout experiments done in chicken models suggest Radical fringe plays an integral role in wing development.

Conversely, knockout experiments in mice have shown that if Radical fringe is absent no phenotypic differences occur. Further study revealed the absence of mutation is most likely due to redundancy of Manic and Lunatic fringe, which likely take over in the absence of Radical fringe. Radical, Manic, and lunatic fringe genes make up a group of enzymes known as 3-beta-N-acetylglucosaminyltransferases. They elongate O-linked fucose residues on notch receptors, which effects neurogenesis through the notch signaling pathway. While Radical fringe may not be vital for limb formation in all species, current research suggests it plays an integral role in establishing the pattern of the developing limb when expressed.

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Further reading