• Gene id: 4242

Gene Summary

• Gene Symbol: MFNG   Gene   UCSC   Ensembl
• Gene name: MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
• Alternate names: beta-1,3-N-acetylglucosaminyltransferase manic fringe, O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase,
• Gene location: 22q13.1 (37486386: 37469062)     Exons: 11     NC_000022.11
• Gene summary(Entrez): 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 p
• OMIM: 602577

Protein Summary

• Protein general information: O00587  
  • Name: Beta 1,3 N acetylglucosaminyltransferase manic fringe (EC 2.4.1.222) (O fucosylpeptide 3 beta N acetylglucosaminyltransferase)
  • Length: 321  
  • Mass: 36202
• Sequence:

  MQCRLPRGLAGALLTLLCMGLLCLRYHLNLSPQRVQGTPELSQPNPGPPKLQLHDVFIAVKTTRAFHRLRLELLL
  DTWVSRTREQTFVFTDSPDKGLQERLGSHLVVTNCSAEHSHPALSCKMAAEFDTFLASGLRWFCHVDDDNYVNPR
  ALLQLLRAFPLARDVYVGRPSLNRPIHASEPQPHNRTRLVQFWFATGGAGFCINRKLALKMAPWASGSRFMDTSA
  LIRLPDDCTMGYIIECKLGGRLQPSPLFHSHLETLQLLRTAQLPEQVTLSYGVFEGKLNVIKLQGPFSPEEDPSR
  FRSLHCLLYPDTPWCPQLGAR

• Structural information:
  • Interpro: IPR017374  IPR003378  
  • STRING: ENSP00000349490
• Other Databases: GeneCards:  MFNG  Malacards:  MFNG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008375	acetylglucosaminyltransferase activity	IBA	molecular function
GO:0008593	regulation of Notch signaling pathway	IBA	biological process
GO:0033829	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IBA	molecular function
GO:0036066	protein O-linked fucosylation	IBA	biological process
GO:0008593	regulation of Notch signaling pathway	ISS	biological process
GO:0002315	marginal zone B cell differentiation	ISS	biological process
GO:0030173	integral component of Golgi membrane	IEA	cellular component
GO:0007389	pattern specification process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0033829	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005615	extracellular space	TAS	cellular component
GO:0007389	pattern specification process	TAS	biological process
GO:0033829	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0033829	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IDA	molecular function
GO:0045747	positive regulation of Notch signaling pathway	IEA	biological process
GO:0032092	positive regulation of protein binding	IEA	biological process
GO:0001825	blastocyst formation	IEA	biological process
GO:0036066	protein O-linked fucosylation	IEA	biological process
GO:0008593	regulation of Notch signaling pathway	IEA	biological process
GO:0002315	marginal zone B cell differentiation	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa04330	Notch signaling pathway
hsa00514	Other types of O-glycan biosynthesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq