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RFNG (RFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase) is a Protein Coding gene. Diseases associated with RFNG include Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 and Dowling-Degos Disease. Among its related pathways are Signaling by GPCR and Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity. An important paralog of this gene is LFNG.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0008375 | acetylglucosaminyltransferase activity | IBA | 21873635 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0033829 | O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005576 | extracellular region | NAS | 10341080 |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Notch Signaling Pathway (WikiPathways) | ||
2 | Pre-NOTCH Expression and Processing | ||
3 | PI3K-Akt signaling pathway | ||
4 | Mucin type O-glycan biosynthesis | ||
5 | Notch Signaling Pathway (sino) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007389 | pattern specification process | IEA | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0008593 | regulation of Notch signaling pathway | IEA,ISS | -- |
GO:0009887 | animal organ morphogenesis | NAS | 10341080 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | · | 2f | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RFNG 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RFNG 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rfng 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RFNG 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rfng 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | RFNG 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RFNG 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rfng 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rfng 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | fng 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006439 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716492 | Benign: not provided | 82,051,566(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv21913 | CNV | gain+loss | 19812545 |
nsv1112723 | CNV | deletion | 24896259 |
nsv428351 | CNV | gain | 18775914 |
nsv457975 | CNV | loss | 19166990 |
nsv457976 | CNV | gain | 19166990 |
nsv470620 | CNV | loss | 18288195 |
nsv470621 | CNV | gain | 18288195 |
nsv576183 | CNV | loss | 21841781 |
nsv576187 | CNV | gain | 21841781 |
nsv576188 | CNV | loss | 21841781 |
nsv576189 | CNV | loss | 21841781 |
nsv952392 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital muscular dystrophy-dystroglycanopathy type a11 |
|
|
dowling-degos disease |
|
|
spondylocostal dysostosis 3, autosomal recessive |
|
|