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This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) 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 is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]
LFNG (LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase) is a Protein Coding gene. Diseases associated with LFNG include Spondylocostal Dysostosis 3, Autosomal Recessive and Spondylocostal Dysostosis, Autosomal Recessive. Among its related pathways are Gene regulatory network modelling somitogenesis and Signaling by GPCR. 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 RFNG.
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,ISS | -- |
GO:0046872 | metal ion binding | IEA | -- |
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 | Wnt / Hedgehog / Notch | ||
4 | PI3K-Akt signaling pathway | ||
5 | Mucin type O-glycan biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001541 | ovarian follicle development | IEA | -- |
GO:0001756 | somitogenesis | ISS | -- |
GO:0002315 | marginal zone B cell differentiation | ISS | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007386 | compartment pattern specification | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LFNG 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LFNG 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LFNG 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lfng 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Lfng 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LFNG 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LFNG 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LFNG 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LFNG 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lfng 30 |
|
||
Str.16143 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC397855 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lfng 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 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
661901 | Uncertain Significance: Spondylocostal dysostosis 3, autosomal recessive | 2,526,861(+) | A/T | MISSENSE_VARIANT | |
665982 | Uncertain Significance: Spondylocostal dysostosis 3, autosomal recessive | 2,525,547(+) | C/T | MISSENSE_VARIANT | |
711473 | Likely Benign: not provided | 2,520,173(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
715354 | Benign: Spondylocostal dysostosis 3, autosomal recessive | 2,527,176(+) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
722113 | Likely Benign: not provided | 2,526,419(+) | C/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2575091 | CNV | insertion | 19546169 |
esv2733856 | CNV | deletion | 23290073 |
esv2733857 | CNV | deletion | 23290073 |
esv3446190 | CNV | duplication | 20981092 |
esv5169 | OTHER | sequence alteration | 18987735 |
nsv471216 | CNV | loss | 18288195 |
nsv605861 | CNV | loss | 21841781 |
nsv605862 | CNV | loss | 21841781 |
nsv823981 | CNV | gain | 20364138 |
nsv830887 | CNV | loss | 17160897 |
nsv950792 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spondylocostal dysostosis 3, autosomal recessive |
|
|
spondylocostal dysostosis, autosomal recessive |
|
|
spondylocostal dysostosis 1, autosomal recessive |
|
|
dysostosis |
|
|
gallbladder benign neoplasm |
|
|