• Gene id: 23275

Gene Summary

• Gene Symbol: POFUT2   Gene   UCSC   Ensembl
• Aliases: C21orf80, FUT13
• Gene name: protein O-fucosyltransferase 2
• Alternate names: GDP-fucose protein O-fucosyltransferase 2, O-FucT-2, peptide-O-fucosyltransferase 2,
• Gene location: 21q22.3 (45287913: 45263927)     Exons: 17     NC_000021.9
• Gene summary(Entrez): Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombos
• OMIM: 610249

Protein Summary

• Protein general information: Q9Y2G5  
  • Name: GDP fucose protein O fucosyltransferase 2 (EC 2.4.1.221) (Peptide O fucosyltransferase 2) (O FucT 2)
  • Length: 429  
  • Mass: 49976
  • Tissue specificity: Isoform A is expressed in fetal liver and peripheral blood lymphocytes. Isoform B is expressed in spleen, lung, testis, bone marrow, thymus, pancreas, prostate, fetal brain, fetal liver and fetal kidney. Isoform C is expressed in brain
• Sequence:

  MATLSFVFLLLGAVSWPPASASGQEFWPGQSAADILSGAASRRRYLLYDVNPPEGFNLRRDVYIRIASLLKTLLK
  TEEWVLVLPPWGRLYHWQSPDIHQVRIPWSEFFDLPSLNKNIPVIEYEQFIAESGGPFIDQVYVLQSYAEGWKEG
  TWEEKVDERPCIDQLLYSQDKHEYYRGWFWGYEETRGLNVSCLSVQGSASIVAPLLLRNTSARSVMLDRAENLLH
  DHYGGKEYWDTRRSMVFARHLREVGDEFRSRHLNSTDDADRIPFQEDWMKMKVKLGSALGGPYLGVHLRRKDFIW
  GHRQDVPSLEGAVRKIRSLMKTHRLDKVFVATDAVRKEYEELKKLLPEMVRFEPTWEELELYKDGGVAIIDQWIC
  AHARFFIGTSVSTFSFRIHEEREILGLDPKTTYNRFCGDQEKACEQPTHWKITY

• Structural information:
  • Interpro: IPR019378  
  • PDB: 4AP5 4AP6
  • PDBsum: 4AP5 4AP6
  • STRING: ENSP00000339613
• Other Databases: GeneCards:  POFUT2  Malacards:  POFUT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903334	positive regulation of protein folding	IMP	biological process
GO:0046922	peptide-O-fucosyltransferase activity	IBA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0051046	regulation of secretion	IDA	biological process
GO:0046922	peptide-O-fucosyltransferase activity	IDA	molecular function
GO:0036066	protein O-linked fucosylation	IDA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0006004	fucose metabolic process	IEA	biological process
GO:0046922	peptide-O-fucosyltransferase activity	IEA	molecular function
GO:0036066	protein O-linked fucosylation	TAS	biological process
GO:0046922	peptide-O-fucosyltransferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0010717	regulation of epithelial to mesenchymal transition	IEA	biological process
GO:0008417	fucosyltransferase activity	IEA	molecular function
GO:0036065	fucosylation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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