Aliases for LFNG Gene
Aliases for LFNG Gene
External Ids for LFNG Gene
- HGNC: 6560
- Entrez Gene: 3955
- Ensembl: ENSG00000106003
- OMIM: 602576
- UniProtKB: Q8NES3
Previous GeneCards Identifiers for LFNG Gene
- GC07P002201
- GC07P002303
- GC07P002302
- GC07P002330
- GC07P002524
- GC07P002469
- GC07P002552
Summaries for LFNG Gene
-
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]
GeneCards Summary for LFNG Gene
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 3. Among its related pathways are Notch signaling pathway (KEGG) and Gene regulatory network modelling somitogenesis. 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.
UniProtKB/Swiss-Prot for LFNG Gene
-
Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1 (PubMed:11346656). Essential mediator of somite segmentation and patterning (By similarity).
Additional gene information for LFNG Gene
- Monarch Initiative
- Search for LFNG at DataMed
- Search for LFNG at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LFNG Gene
Genomics for LFNG Gene
GeneHancer (GH) Regulatory Elements for LFNG Gene
Promoters and enhancers for LFNG Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around LFNG on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the LFNG gene promoter:
-
- HEN1
- Pax-4a
- c-Ets-1
- GATA-2
- GR
- GR-alpha
- GR-beta
- SREBP-1a
- SREBP-1b
- SREBP-1c
Regulatory Element Products
Genomic Locations for LFNG Gene
Genomic Locations for LFNG Gene
- chr7:2,512,529-2,529,177
- (GRCh38/hg38)
- Size:
- 16,649 bases
- Orientation:
- Plus strand
- chr7:2,552,163-2,568,811
- (GRCh37/hg19)
- Size:
- 16,649 bases
- Orientation:
- Plus strand
Genomic View for LFNG Gene
Genes around LFNG on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p22.3 by Entrez Gene
- 7p22.3 by HGNC
- 7p22.3 by Ensembl
LFNG Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LFNG Gene
Proteins for LFNG Gene
-
Protein details for LFNG Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NES3-LFNG_HUMAN
- Recommended name:
- Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe
- Protein Accession:
- Q8NES3
- B3KTY6
- B5MCR5
- O00589
- Q96C39
- Q9UJW5
Protein attributes for LFNG Gene
- Size:
- 379 amino acids
- Molecular mass:
- 41773 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
- No Data Available
Protein Expression for LFNG Gene
Post-translational modifications for LFNG Gene
- A soluble form may be derived from the membrane form by proteolytic processing.
- Glycosylation at isoforms=2, 3, 4167
- Modification sites at PhosphoSitePlus
Other Protein References for LFNG Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for LFNG
- Novus Biologicals Antibodies for LFNG
-
Abcam antibodies for LFNG
- Invitrogen Antibodies for LFNG (AFLGC-LFNG)
- GeneTex LFNG Antibody for LFNG
-
Santa Cruz Biotechnology (SCBT) Antibodies for LFNG
Protein Products
-
OriGene Purified Proteins for LFNG
- Search Origene for MassSpec and Protein Over-expression Lysates for LFNG
- Origene Custom Protein Services for LFNG
- Search GeneTex for Proteins for LFNG
-
Abcam proteins for LFNG
Assay Products
No data available for DME Specific Peptides for LFNG Gene
Domains & Families for LFNG Gene
Gene Families for LFNG Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for LFNG Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for LFNG Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8NES3- Family:
-
- Belongs to the glycosyltransferase 31 family.
Function for LFNG Gene
Molecular function for LFNG Gene
- UniProtKB/Swiss-Prot Function:
- Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1 (PubMed:11346656). Essential mediator of somite segmentation and patterning (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated protein acceptor.
- GENATLAS Biochemistry:
- lunatic fringe,putative regulator of developmental processes through regulation of the sensitivity of NOTCH receptor genes for their specific ligands,essential mediator of somite segmentation and patterning
Enzyme Numbers (IUBMB) for LFNG Gene
Phenotypes From GWAS Catalog for LFNG Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
| GO:0033829 | O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity | ISS | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for LFNG Gene
- MGI mutant phenotypes for LFNG:
-
inferred from 7 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- vision/eye phenotype
- nervous system phenotype
- no phenotypic analysis
- endocrine/exocrine gland phenotype
- mortality/aging
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- hearing/vestibular/ear phenotype
- hematopoietic system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for LFNG:
Animal Models for LFNG Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for LFNG
-
CRISPR Products
-
OriGene CRISPR knockouts for LFNG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LFNG
- genomics-online: gRNA clones - Search results for 124 available LFNG gene related products
- Overview of 124 available LFNG gene related products
- Applied Biological Materials CRISPR for LFNG
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LFNG
- GenScript: Design CRISPR guide RNA sequences for LFNG
miRNA for LFNG Gene
- miRTarBase miRNAs that target LFNG
-
- hsa-mir-335-5p (MIRT018104)
- hsa-mir-132-3p (MIRT021806)
- hsa-mir-181a-5p (MIRT025038)
- hsa-mir-125a-5p (MIRT437807)
- hsa-mir-27b-3p (MIRT487163)
- hsa-mir-27a-3p (MIRT487164)
- hsa-mir-513a-5p (MIRT487165)
- hsa-mir-548x-5p (MIRT487166)
- hsa-mir-548g-5p (MIRT487167)
- hsa-mir-548f-5p (MIRT487168)
- hsa-mir-3663-3p (MIRT487169)
- hsa-mir-548aj-5p (MIRT487170)
- hsa-mir-545-3p (MIRT487171)
- hsa-mir-548p (MIRT487172)
- hsa-mir-3120-3p (MIRT487173)
- hsa-mir-3941 (MIRT618183)
- hsa-mir-6862-5p (MIRT618184)
- hsa-mir-4253 (MIRT618185)
- hsa-mir-603 (MIRT618186)
- hsa-mir-362-3p (MIRT618187)
- hsa-mir-329-3p (MIRT618188)
- hsa-mir-564 (MIRT667651)
- hsa-mir-6715b-5p (MIRT667652)
- hsa-mir-4269 (MIRT667653)
- hsa-mir-3622a-5p (MIRT667654)
- hsa-mir-146a-5p (MIRT733007)
- hsa-mir-125a-3p (MIRT761669)
- hsa-mir-196a-3p (MIRT763504)
- hsa-mir-4690-3p (MIRT771079)
- hsa-mir-552-3p (MIRT774642)
- hsa-mir-5685 (MIRT774965)
- hsa-mir-6856-3p (MIRT780480)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LFNG
- Browse OriGene Inhibitory RNA Products For LFNG
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LFNG
- genomics-online: shRNA clones - Search results for 124 available LFNG gene related products
- Overview of 124 available LFNG gene related products
Clone Products
-
OriGene ORF clones in human for LFNG
- RC223354
- RC223354L1
- RC223354L2
- RC223354L3
- RC223354L4
- RC224281
- RC224281L1
- RC224281L2
- RC224281L3
- RC224281L4
- RC229769
- RC229769L1
- RC229769L2
- RC229769L3
- RC229769L4
- RC229861
- RC229861L1
- RC229861L2
- RC229861L3
- RC229861L4
- RG223354
- RG224281
- RG229769
- RG229861
- RC223354L1V
- RC223354L2V
- RC223354L3V
- RC223354L4V
- RC224281L1V
- RC224281L2V
- RC224281L3V
- RC224281L4V
- RC229769L1V
- RC229769L2V
- RC229769L3V
- RC229769L4V
- RC229861L1V
- RC229861L2V
- RC229861L3V
- RC229861L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LFNG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LFNG
- Applied Biological Materials Clones for LFNG
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for LFNG (Lunatic Fringe/LFNG)
Cell Line Products
- ESI BIO PureStem ES-209, Meso-prx/latp Progenitor for LFNG
-
Horizon Cell Lines for LFNG
No data available for Transcription Factor Targets and HOMER Transcription for LFNG Gene
Localization for LFNG Gene
Subcellular locations from UniProtKB/Swiss-Prot for LFNG Gene
- Golgi apparatus membrane; Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| golgi apparatus | 4 |
| nucleus | 3 |
| plasma membrane | 2 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | NAS | 10341080 |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030173 | integral component of Golgi membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for LFNG Gene
Pathways & Interactions for LFNG Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Notch signaling pathway (KEGG) |
.30
|
|
| 2 | Pre-NOTCH Expression and Processing | ||
| 3 | PI3K-Akt signaling pathway | ||
| 4 | Other types of O-glycan biosynthesis | ||
| 5 | Wnt / Hedgehog / Notch | ||
Pathways by source for LFNG Gene
2 BioSystems pathways for LFNG Gene
4 Reactome pathways for LFNG Gene
3 KEGG pathways for LFNG Gene
1 GeneGo (Thomson Reuters) pathway for LFNG Gene
1 Qiagen pathway for LFNG Gene
1 Cell Signaling Technology pathway for LFNG Gene
Interacting Proteins for LFNG Gene
GPS-Prot Interaction Network for LFNG
SIGNOR curated interactions for LFNG Gene
| 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 | -- |
Transcripts for LFNG Gene
mRNA/cDNA for LFNG Gene
- (4) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (33) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000402506 2268 bps (uc021zyw.2)
- ENST00000402045 2058 bps (uc021zyx.1)
- ENST00000222725 2377 bps (uc003smf.4)
- ENST00000359574 1377 bps (uc003smg.4)
- ENST00000493850 804 bps (uc064bah.1)
Unigene Clusters for LFNG Gene
- LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for LFNG
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LFNG
- genomics-online: gRNA clones - Search results for 124 available LFNG gene related products
- Overview of 124 available LFNG gene related products
- Applied Biological Materials CRISPR for LFNG
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LFNG
- GenScript: Design CRISPR guide RNA sequences for LFNG
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LFNG
- Browse OriGene Inhibitory RNA Products For LFNG
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LFNG
- genomics-online: shRNA clones - Search results for 124 available LFNG gene related products
- Overview of 124 available LFNG gene related products
Clone Products
-
OriGene ORF clones in human for LFNG
- RC223354
- RC223354L1
- RC223354L2
- RC223354L3
- RC223354L4
- RC224281
- RC224281L1
- RC224281L2
- RC224281L3
- RC224281L4
- RC229769
- RC229769L1
- RC229769L2
- RC229769L3
- RC229769L4
- RC229861
- RC229861L1
- RC229861L2
- RC229861L3
- RC229861L4
- RG223354
- RG224281
- RG229769
- RG229861
- RC223354L1V
- RC223354L2V
- RC223354L3V
- RC223354L4V
- RC224281L1V
- RC224281L2V
- RC224281L3V
- RC224281L4V
- RC229769L1V
- RC229769L2V
- RC229769L3V
- RC229769L4V
- RC229861L1V
- RC229861L2V
- RC229861L3V
- RC229861L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LFNG
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LFNG
- Applied Biological Materials Clones for LFNG
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for LFNG (Lunatic Fringe/LFNG)
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||
| SP4: |
Expression for LFNG Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Paraxial Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm Cells Trunk Mesoderm
- Presomitic Mesoderm Cells Presomitic Mesoderm
- Paraxial Mesoderm Cells Paraxial Mesoderm
-
Tooth (Integumentary System)
- Inner Enamel Epithelial Cells Dental Enamel
- Stellate Reticulum Cells Dental Core
- Outer Enamel Epithelial Cells Dental Enamel
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Theca Cells Antral Follicle
-
Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm Cells Trunk Mesoderm
- Paraxial Mesoderm Cells Paraxial Mesoderm
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
-
Epithelial Cells
- Inner Enamel Epithelial Cells Dental Enamel
- Outer Enamel Epithelial Cells Dental Enamel
-
Somite (Muscoskeletal System)
- Presomitic Mesoderm Cells Presomitic Mesoderm
- Oligodendrocytes (Nervous System)
- Spinal Cord (Nervous System)
-
Kidney (Urinary System)
-
Blood (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for LFNG Gene
This gene is overexpressed in Whole Blood (x6.5) and Pancreas (x5.5).
This gene is overexpressed in Heart (31.8), Stomach (20.5), and Pancreas (13.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LFNG Gene
NURSA nuclear receptor signaling pathways regulating expression of LFNG Gene:
LFNGSOURCE GeneReport for Unigene cluster for LFNG Gene:
Hs.159142Evidence on tissue expression from TISSUES for LFNG Gene
- Kidney(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for LFNG Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeleton
Regions:
Head and neck:
- brain
- head
- jaw
- mandible
- maxilla
- meninges
- mouth
- neck
- skull
- tooth
Thorax:
- chest wall
- lung
- rib
- rib cage
- sternum
Pelvis:
- pelvis
Limb:
- digit
- finger
- hand
- upper limb
General:
- blood vessel
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for LFNG
- genomics-online: primer clones - Search results for 124 available LFNG gene related products
- Overview of 124 available LFNG gene related products
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for LFNG Gene
Orthologs for LFNG Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LFNG 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LFNG 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LFNG 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Lfng 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Lfng 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | LFNG 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | LFNG 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LFNG 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | LFNG 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lfng 33 |
|
||
| Str.16143 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC397855 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | lfng 34 33 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | fng 34 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany |
- Species where no ortholog for LFNG was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for LFNG Gene
- ENSEMBL:
- Gene Tree for LFNG (if available)
- TreeFam:
- Gene Tree for LFNG (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for LFNG: view image
Paralogs for LFNG Gene
Variants for LFNG Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894024 | pathogenic, Spondylocostal dysostosis 3, Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813] | 2,525,301(+) | C/A/T | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs148460430 | uncertain-significance, Spondylocostal dysostosis 3 | 2,525,485(+) | C/T | coding_sequence_variant, missense_variant | |
| rs62444250 | benign, not specified, Spondylocostal dysostosis 3 | 2,525,215(+) | A/G/T | intron_variant | |
| rs141008352 | likely-benign, not specified | 2,524,746(+) | G/A | intron_variant | |
| rs147266260 | likely-benign, not specified | 2,525,444(+) | C/T | coding_sequence_variant, synonymous_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 |
Residual Variation Intolerance Score:
81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.80;
16.88% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for LFNG Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LFNG Gene
Disorders for LFNG Gene
(6) MalaCards diseases for LFNG Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spondylocostal dysostosis 3, autosomal recessive |
|
|
| spondylocostal dysostosis 3 |
|
|
| spondylocostal dysostosis, autosomal recessive |
|
|
| spondylocostal dysostosis 1, autosomal recessive |
|
|
| dysostosis |
|
|
Search LFNG in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
LFNG_HUMAN- Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813]: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. {ECO:0000269 PubMed:16385447}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for LFNG
No data available for Genatlas for LFNG Gene
Publications for LFNG Gene
- Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. (PMID: 16385447) Sparrow DB … Dunwoodie SL (American journal of human genetics 2006) 3 4 22 58
- A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway. (PMID: 9187150) Johnston SH … Vogt TF (Development (Cambridge, England) 1997) 2 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- Clock regulatory elements control cyclic expression of Lunatic fringe during somitogenesis. (PMID: 12110169) Cole SE … Vogt TF (Developmental cell 2002) 3 4 58
- Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation. (PMID: 11346656) Shimizu K … Hirai H (The Journal of biological chemistry 2001) 3 4 58
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Sources for LFNG Gene
- (1) GeneCards
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