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

Also Known as SCDO3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3955

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	10935626	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of somitogenesis	IMP IMP: Inferred from mutant phenotype	19061953	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07601	LFNG Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22217	Lfng Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28739	Lfng Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	LFNG	NCBI