Homo sapiens Gene: POFUT2
Summary
InnateDB Gene IDBG-5793.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol POFUT2
Gene Name protein O-fucosyltransferase 2
Synonyms C21orf80; FUT13
Species Homo sapiens
Ensembl Gene ENSG00000186866
Encoded Proteins
protein O-fucosyltransferase 2
protein O-fucosyltransferase 2
protein O-fucosyltransferase 2
protein O-fucosyltransferase 2
protein O-fucosyltransferase 2
protein O-fucosyltransferase 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:45263928-45287898
Strand Reverse strand
Band q22.3
Transcripts
ENST00000331343 ENSP00000329682
ENST00000349485 ENSP00000339613
ENST00000334538 ENSP00000335427
ENST00000451615 ENSP00000407635
ENST00000471540
ENST00000485190
ENST00000460932
ENST00000463917
ENST00000493524
ENST00000468360
ENST00000493811
ENST00000476653
ENST00000615172 ENSP00000482216
ENST00000612472 ENSP00000478168
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008417 fucosyltransferase activity
GO:0046922 peptide-O-fucosyltransferase activity
Biological Process
GO:0001707 mesoderm formation
GO:0006004 fucose metabolic process
GO:0010468 regulation of gene expression
GO:0010717 regulation of epithelial to mesenchymal transition
GO:0036065 fucosylation
GO:0036066 protein O-linked fucosylation
GO:0051046 regulation of secretion
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Post-translational protein modification pathway
O-linked glycosylation pathway
Metabolism of proteins pathway
O-glycosylation of TSR domain-containing proteins pathway
KEGG
Other types of O-glycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt Q9Y2G5
TrEMBL B4DNV6 S6FW71
UniProt Splice Variant
Entrez Gene 23275
UniGene Hs.517345 Hs.592164 Hs.619078
RefSeq NM_015227 NM_133635 XM_006723982 XM_006723983
HUGO HGNC:14683
OMIM 610249
CCDS CCDS13719 CCDS13721
HPRD
IMGT
EMBL AB023175 AJ302079 AJ302080 AJ575591 AK298080 AL110285 AL163301 AY066015 BC011044 BC064623 HG380510
GenPept AAH11044 AAH64623 AAL47681 BAA76802 BAG60368 CAB53715 CAB90496 CAC24556 CAC24557 CAE01472 CDG37810
RNA Seq Atlas 23275