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

Homo sapiens

Also known as SCDO3

Gene ID: 3955 | Gene type: protein coding

About LFNG

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:2,512,529-2,529,177 (from NCBI)

This gene has 6 transcripts (splice variants), 226 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in skin (RPKM 16.6), stomach (RPKM 14.0) and 23 other tissues.

Summary

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 Products(4)

mRNA	Protein	Name
NM_001040167.2	NP_001035257.1	beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform a precursor
NM_001040168.2	NP_001035258.1	beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform b precursor
NM_001166355.2	NP_001159827.1	beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform c
NM_002304.3	NP_002295.1	beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform d

LFNG Protein Structure

Fringe

0
100
200
300
379 a.a.

Protein Preferred Names

Protein Names

beta-1,3-N-acetylglucosaminyltransferase lunatic fringe

Related Diseases

Diseases

Alias

Spondylocostal Dysostosis 3, Autosomal Recessive

SCDO3	Spondylocostal Dysostosis, Autosomal Recessive 3
Spondylocostal Dysostosis 3	Autosomal Recessive Spondylocostal Dysostosis 3
Doid:0112361	Dysostosis, Spondylocostal, Autosomal Recessive, Type 3
Jarcho-Levin Syndrome

Spondylocostal Dysostosis, Autosomal Recessive

Autosomal Recessive Spondylocostal Dysostosis	Jarcho-Levin Syndrome
Costovertebral Dysplasia	Spondylocostal Dysplasia
Spondylocostal Dysostosis, Autosomal Recessive 2

Spondylocostal Dysostosis

Jarcho-Levin Syndrome	Costovertebral Dysplasia
Spondylothoracic Dysostosis	Spondylothoracic Dysplasia
Scdo	Dysostosis, Spondylocostal

Dysostosis

Dysostoses

Spondylocostal Dysostosis 4, Autosomal Recessive

SCDO4	Spondylocostal Dysostosis 4
Autosomal Recessive Spondylocostal Dysostosis 4	Doid:0112364
Dysostosis, Spondylocostal, Autosomal Recessive, Type 4

Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome	SCDO1
Vertebral Anomalies	Spondylothoracic Dysplasia
Costovertebral Dysplasia	Spondylothoracic Dysostosis
Spondylocostal Dysostosis 1	Autosomal Recessive Spondylocostal Dysostosis 1
Spondylocostal Dysostosis, Autosomal Recessive, 1	Doid:0112365
Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Spondylocostal Dysostosis 5

Spondylothoracic Dysostosis	SCDO5
Jarcho-Levin Syndrome	Scoliosis, Congenital, With Or Without Rib Anomalies
Tacs	Spondylocostal Dysplasia
Costovertebral Segmentation Anomalies	Spondylocostal Dysostosis 1
Spondylocostal Dysostosis	Spondylothoracic Dysplasia
Scdo1	Spondylocostal Dysostosis 1 Autosomal Recessive
Costovertebral Dysplasia	Scdo
Std	Autosomal Dominant Spondylocostal Dysostosis
Autosomal Dominant Spondylocostal Dysplasia	Doid:0112363
Spondylocostal Dysostosis 4, Autosomal Dominant

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

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

Scoliosis

Klippel-Feil Syndrome

Cervical Vertebral Fusion	Congenital Dystrophia Brevicollis
Cervical Fusion Syndrome	Klippel-Feil Deformity
Autosomal Dominant Klippel-Feil Syndrome	Congenital Synostosis Of Cervical Vertebrae
Klippel-Feil And Turner Syndrome	Klippel-Feil Deformity, Deafness And Facial Asymmetry
Klippel Feil Syndrome	Cervical Vertebral Fusion Syndrome
Dystrophia Brevicollis Congenita	Fusion Of Cervical Vertebrae
Kfs	Klippel-Feil Sequence
Vertebral Cervical Fusion Syndrome	Klippel-Feil Syndrome, Autosomal Dominant
Klippel-Feil Malformation	Isolated Klippel-Feil Syndrome

Hajdu-Cheney Syndrome

Acroosteolysis With Osteoporosis And Changes In Skull And Mandible	Cheney Syndrome
Arthrodentoosteodysplasia	HJCYS
Serpentine Fibula-Polycystic Kidney Syndrome	Sfpks
Acroosteolysis Dominant Type	Serpentine Fibula-Polycystic Kidneys Syndrome
Arthro-Dento-Osteo Dysplasia	Cranioskeletal Dysplasia With Acro-Osteolysis
Familial Osteodysplasia	Hereditary Osteodysplasia With Acro-Osteolysis
Hcs	Serpentine Fibula Syndrome
Acro-Osteolysis	Serpentine Fibula Polycystic Kidney Syndrome

Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome	Caudal Regression Sequence
Sacral Agenesis	Caudal Dysgenesis Syndrome
SDAM	Caudal Dysplasia Sequence
Caudal Dysplasia	Sacral Agenesis Syndrome
Sacral Regression Syndrome	Sacral Defect And Anterior Sacral Meningocele
Rudd Klimek Syndrome	Sirenomelia

Alagille Syndrome 1

Alagille Syndrome	Arteriohepatic Dysplasia
Alagille-Watson Syndrome	Cholestasis With Peripheral Pulmonary Stenosis
Hepatic Ductular Hypoplasia	Alagille Syndrome Due To A Jag1 Point Mutation
ALGS1	Algs
Aws	Syndromic Bile Duct Paucity
Cardiovertebral Syndrome	Hepatofacioneurocardiovertebral Syndrome
Paucity Of Interlobular Bile Ducts	Watson-Miller Syndrome
Alagille Syndrome Due To 20p12 Microdeletion	Ahd
Hepatic Ductular Hypoplasia, Syndromatic	Watson Alagille Syndrome
Alagille'S Syndrome	Alagille Syndrome Due To Del(20)(P12)
Alagille Syndrome Due To Monosomy 20p12	Alagille-Watson Syndrome Due To Monosomy 20p12
Arteriohepatic Dysplasia Due To Monosomy 20p12	Syndromic Bile Duct Paucity Due To Monosomy 20p12
Alagille-Watson Syndrome Due To A Jag1 Point Mutation	Arteriohepatic Dysplasia Due To A Jag1 Point Mutation
Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation	Alagille Syndrome, Type 1

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07601	LFNG Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	LFNG	VGNC	VGNC:68037
Canis familiaris	LFNG	VGNC	VGNC:42645
Mus musculus	LFNG	MGD	MGI:1095413
Rattus norvegicus	LFNG	RGD	RGD:620587
Bos taurus	LFNG	VGNC	VGNC:30849
Macaca mulatta	LFNG	VGNC	VGNC:74253