MFNG Gene (Protein Coding)

MFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase

GC22M037469
GIFtS:
41
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 glycosyltransf... See more...

Aliases for MFNG Gene

Aliases for MFNG Gene

  • MFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase 2 3 5
  • O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase 3 4
  • Beta-1,3-N-Acetylglucosaminyltransferase Manic Fringe 3 4
  • EC 2.4.1.222 4 51
  • Manic Fringe (Drosophila) Homolog 2
  • Manic Fringe Homolog (Drosophila) 2
  • MFNG 5

External Ids for MFNG Gene

Previous GeneCards Identifiers for MFNG Gene

  • GC22M034479
  • GC22M036108
  • GC22M036189
  • GC22M037865
  • GC22M020831

Summaries for MFNG Gene

Entrez Gene Summary for MFNG Gene

  • 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]

GeneCards Summary for MFNG Gene

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.

UniProtKB/Swiss-Prot Summary for MFNG Gene

  • Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules (PubMed:10935626). 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).

Gene Wiki entry for MFNG Gene

Additional gene information for MFNG Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFNG Gene

Genomics for MFNG Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MFNG Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J037482 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.3 1306 4.7 SP1 HNRNPL TEAD4 PRDM10 KDM1A RCOR2 POLR2A LARP7 ZNF143 ZNF776 MFNG EIF3D EIF3L ENSG00000100101 H1-0 TRIOBP CARD10 lnc-CARD10-2 ELFN2
GH22J037491 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 600.4 -6.3 -6308 2.2 CTCF KDM1A DPF2 HDAC1 ZNF600 SCRT2 ZKSCAN1 ZNF316 ZNF623 HIC1 lnc-MFNG-3 MFNG CARD10 lnc-MFNG-4
GH22J037487 Enhancer 0.4 ENCODE dbSUPER 600.7 -1.3 -1305 0.2 SPI1 MFNG lnc-MFNG-3 CARD10
GH22J037429 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.1 +54.5 54517 6.1 CTCF PRDM10 ZNF629 ZNF692 ZIC2 ZSCAN4 PATZ1 REST RAD21 TRIM22 HSALNG0135308 ELFN2 ANKRD54 MFNG PLA2G6 IL2RB TEX33 CARD10 lnc-MFNG-1
GH22J037400 Enhancer 1 Ensembl ENCODE dbSUPER 11 +84.4 84447 4.1 ZNF300 FOXA1 ZIC2 ZNF491 OSR2 ZIK1 GABPA NFIC WT1 BCOR ELFN2 ANKRD54 ENSG00000243902 MFNG CYTH4 CSNK1E ENSG00000100101 IL2RB TMPRSS6 ENSG00000231467
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFNG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFNG

Top Transcription factor binding sites by QIAGEN in the MFNG gene promoter:
  • AML1a
  • AP-2gamma
  • AREB6
  • c-Myb
  • c-Rel
  • HEN1
  • LCR-F1
  • MAZR
  • S8

Genomic Locations for MFNG Gene

Genomic Locations for MFNG Gene
chr22:37,469,063-37,486,393
(GRCh38/hg38)
Size:
17,331 bases
Orientation:
Minus strand
chr22:37,865,101-37,882,478
(GRCh37/hg19)
Size:
17,378 bases
Orientation:
Minus strand

Genomic View for MFNG Gene

Genes around MFNG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFNG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFNG Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MFNG Gene

Proteins for MFNG Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MFNG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00587-MFNG_HUMAN
    Recommended name:
    Beta-1,3-N-acetylglucosaminyltransferase manic fringe
    Protein Accession:
    O00587
    Secondary Accessions:
    • B4DLT6
    • O43730
    • Q504S9

    Protein attributes for MFNG Gene

    Size:
    321 amino acids
    Molecular mass:
    36202 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MFNG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFNG Gene

Selected DME Specific Peptides for MFNG Gene

O00587:
  • DDDNYVN
  • CHVDDDNY
  • ALSCKMA
  • QVTLSYG
  • LYPDTPWCP
  • HCLLYPDT
  • RLPDDCT
  • FIAVKTT
  • FWFATGGAGFC

Post-translational modifications for MFNG Gene

  • Glycosylation at Asn109 and Asn185
  • Modification sites at PhosphoSitePlus

Other Protein References for MFNG Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MFNG Gene

Gene Families for MFNG Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MFNG Gene

InterPro:
Blocks:
  • Fringe-like
ProtoNet:

Suggested Antigen Peptide Sequences for MFNG Gene

GenScript: Design optimal peptide antigens:
  • MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (A9UJQ2_HUMAN)
  • cDNA FLJ52188, highly similar to Beta-1,3-N-acetylglucosaminyltransferase manicfringe (EC 2.4.1.222) (B4DLT6_HUMAN)
  • O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00587

UniProtKB/Swiss-Prot:

MFNG_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with MFNG: view

Function for MFNG Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MFNG 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 (PubMed:10935626). 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated protein acceptor.; EC=2.4.1.222; Evidence={ECO:0000269|PubMed:10935626};.
GENATLAS Biochemistry:
manic fringe,putative regulator of developmental processes through regulation of the sensitivity of NOTCH receptor genes or their specific ligands,essential mediator of somite segmentaion and patterning

Enzyme Numbers (IUBMB) for MFNG Gene

Phenotypes From GWAS Catalog for MFNG Gene

Gene Ontology (GO) - Molecular Function for MFNG Gene

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 --
genes like me logo Genes that share ontologies with MFNG: view
genes like me logo Genes that share phenotypes with MFNG: view

Animal Models for MFNG Gene

MGI Knock Outs for MFNG:

Animal Model Products

  • Taconic Biosciences Mouse Models for MFNG

CRISPR Products

miRNA for MFNG Gene

miRTarBase miRNAs that target MFNG

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFNG

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MFNG Gene

Localization for MFNG Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFNG Gene

Golgi apparatus membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFNG gene
Compartment Confidence
extracellular 5
golgi apparatus 4
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MFNG Gene

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 --
genes like me logo Genes that share ontologies with MFNG: view

Pathways & Interactions for MFNG Gene

genes like me logo Genes that share pathways with MFNG: view

Pathways by source for MFNG Gene

1 Sino Biological pathway for MFNG Gene
1 BioSystems pathway for MFNG Gene
1 GeneGo (Thomson Reuters) pathway for MFNG Gene
  • Development Notch Signaling Pathway
1 R&D Systems pathway for MFNG Gene
1 Qiagen pathway for MFNG Gene
  • Notch Signaling

SIGNOR curated interactions for MFNG Gene

Activates:

Gene Ontology (GO) - Biological Process for MFNG Gene

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 --
genes like me logo Genes that share ontologies with MFNG: view

Drugs & Compounds for MFNG Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MFNG Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MFNG Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFNG

Alternative Splicing Database (ASD) splice patterns (SP) for MFNG Gene

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: -

Relevant External Links for MFNG Gene

GeneLoc Exon Structure for
MFNG

Expression for MFNG Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MFNG Gene

mRNA expression in normal human tissues for MFNG Gene
mRNA expression by BioGPS for MFNG GenemRNA expression by GTEx for MFNG Gene

mRNA differential expression in normal tissues according to GTEx for MFNG Gene

This gene is overexpressed in Whole Blood (x9.9) and Spleen (x5.8).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFNG

SOURCE GeneReport for Unigene cluster for MFNG Gene:

Hs.517603

Evidence on tissue expression from TISSUES for MFNG Gene

  • Nervous system(2.4)
  • Intestine(2)
genes like me logo Genes that share expression patterns with MFNG: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFNG Gene

Orthologs for MFNG Gene

This gene was present in the common ancestor of animals.

Orthologs for MFNG Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MFNG 30 31
  • 98.96 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MFNG 30 31
  • 87.08 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MFNG 30 31
  • 86.8 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mfng 30 17 31
  • 83.65 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mfng 30
  • 82.81 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia MFNG 31
  • 68 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MFNG 31
  • 67 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MFNG 30 31
  • 71.02 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 72 (a)
 OneToMany
-- 31
  • 60 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii mfng 30 31
  • 62.05 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta fng 31 32
  • 32 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 43 (a)
 ManyToMany
-- 31
  • 42 (a)
 ManyToMany
-- 31
  • 41 (a)
 ManyToMany
-- 31
  • 40 (a)
 ManyToMany
-- 31
  • 40 (a)
 ManyToMany
-- 31
  • 40 (a)
 ManyToMany
-- 31
  • 39 (a)
 ManyToMany
-- 31
  • 39 (a)
 ManyToMany
-- 31
  • 39 (a)
 ManyToMany
-- 31
  • 39 (a)
 ManyToMany
-- 31
  • 39 (a)
 ManyToMany
-- 31
  • 38 (a)
 ManyToMany
-- 31
  • 36 (a)
 ManyToMany
-- 31
  • 35 (a)
 ManyToMany
-- 31
  • 35 (a)
 ManyToMany
-- 31
  • 35 (a)
 ManyToMany
-- 31
  • 35 (a)
 ManyToMany
Species where no ortholog for MFNG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MFNG Gene

ENSEMBL:
Gene Tree for MFNG (if available)
TreeFam:
Gene Tree for MFNG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MFNG: view image

Paralogs for MFNG Gene

Paralogs for MFNG Gene

(2) SIMAP similar genes for MFNG Gene using alignment to 8 proteins:

  • MFNG_HUMAN
  • A9UJP9_HUMAN
  • A9UJQ0_HUMAN
  • A9UJQ1_HUMAN
  • A9UJQ2_HUMAN
  • F8WE05_HUMAN
  • F8WE21_HUMAN
  • H0Y6Q9_HUMAN
genes like me logo Genes that share paralogs with MFNG: view

Variants for MFNG Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFNG Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs8192548 - p.Arg302Cys

Additional dbSNP identifiers (rs#s) for MFNG Gene

Structural Variations from Database of Genomic Variants (DGV) for MFNG Gene

Variant ID Type Subtype PubMed ID
esv3647709 CNV loss 21293372
nsv1057617 CNV gain 25217958
nsv829203 CNV loss 20364138

Variation tolerance for MFNG Gene

Residual Variation Intolerance Score: 48.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MFNG Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFNG

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFNG Gene

Disorders for MFNG Gene

MalaCards: The human disease database

(3) MalaCards diseases for MFNG Gene - From: DISEASES

Disorder Aliases PubMed IDs
spondylocostal dysostosis 3, autosomal recessive
  • spondylothoracic dysostosis
dowling-degos disease
  • ddd
adams-oliver syndrome
  • aos
- elite association - COSMIC cancer census association via MalaCards
Search MFNG in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MFNG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MFNG: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MFNG Gene

Publications for MFNG Gene

  1. 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
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  4. Fringe is a glycosyltransferase that modifies Notch. (PMID: 10935626) Moloney DJ … Vogt TF (Nature 2000) 3 4
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4

ExternalLinks

View latest publications for MFNG gene in Mastermind

Products for MFNG Gene

  • Addgene plasmids for MFNG
  • Signalway ELISA kits for MFNG

Sources for MFNG Gene