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This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the LFNG (GeneID: 3955) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene may control Notch signaling in claudin-low breast cancer. [provided by RefSeq, May 2018]
MFNG (MFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase) is a Protein Coding gene. Diseases associated with MFNG include Spondylocostal Dysostosis 3, Autosomal Recessive 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: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,IDA | 10935626 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005615 | extracellular space | TAS | 9187150 |
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:0001825 | blastocyst formation | IEA | -- |
GO:0002315 | marginal zone B cell differentiation | ISS | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007389 | pattern specification process | TAS,IEA | -- |
GO:0008593 | regulation of Notch signaling pathway | IBA,ISS | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MFNG 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MFNG 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MFNG 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mfng 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mfng 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MFNG 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MFNG 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MFNG 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | mfng 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | fng 31 32 |
|
OneToMany | |
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 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs8192548 | - | p.Arg302Cys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3647709 | CNV | loss | 21293372 |
nsv1057617 | CNV | gain | 25217958 |
nsv829203 | CNV | loss | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spondylocostal dysostosis 3, autosomal recessive |
|
|
dowling-degos disease |
|
|
adams-oliver syndrome |
|
|