Human Gene POFUT2 (ENST00000349485.10_7) from GENCODE V47lift37
  Description: protein O-fucosyltransferase 2, transcript variant 3 (from RefSeq NM_133635.6)
Gencode Transcript: ENST00000349485.10_7
Gencode Gene: ENSG00000186866.17_9
Transcript (Including UTRs)
   Position: hg19 chr21:46,683,850-46,707,810 Size: 23,961 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr21:46,685,397-46,707,786 Size: 22,390 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:46,683,850-46,707,810)mRNA (may differ from genome)Protein (429 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OFUT2_HUMAN
DESCRIPTION: RecName: Full=GDP-fucose protein O-fucosyltransferase 2; EC=2.4.1.221; AltName: Full=Peptide-O-fucosyltransferase 2; Short=O-FucT-2; Flags: Precursor;
FUNCTION: Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in thrombospondin type 1 repeats.
CATALYTIC ACTIVITY: Transfers an alpha-L-fucosyl residue from GDP- beta-L-fucose to the serine hydroxy group of a protein acceptor.
ENZYME REGULATION: Inhibited by EDTA and by Zn(2+).
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=9.8 uM for GDP-fucose;
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Endoplasmic reticulum (By similarity).
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, heart, spleen, liver, lung, stomach, testis, placenta, skin, thymus, pancreas, mammary gland, prostate, fetal brain, fetal liver and fetal heart.
SIMILARITY: Belongs to the glycosyltransferase 68 family.
SEQUENCE CAUTION: Sequence=BAA76802.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAB90496.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Peptide-O-fucosyltransferase 2; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_610";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: POFUT2
Diseases sorted by gene-association score: peters-plus syndrome (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.50 RPKM in Pituitary
Total median expression: 470.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.0024-0.292 Picture PostScript Text
3' UTR -594.601547-0.384 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019378 - GDP-Fuc_O-FucTrfase

Pfam Domains:
PF10250 - GDP-fucose protein O-fucosyltransferase

SCOP Domains:
51556 - Metallo-dependent hydrolases
55455 - SRF-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4AP5 - X-ray MuPIT 4AP6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y2G5
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008417 fucosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0046922 peptide-O-fucosyltransferase activity

Biological Process:
GO:0001707 mesoderm formation
GO:0005975 carbohydrate metabolic process
GO:0006004 fucose metabolic process
GO:0006486 protein glycosylation
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:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus


-  Descriptions from all associated GenBank mRNAs
  BC000626 - Homo sapiens protein O-fucosyltransferase 2, mRNA (cDNA clone IMAGE:3347416), partial cds.
LF384653 - JP 2014500723-A/192156: Polycomb-Associated Non-Coding RNAs.
BC064623 - Homo sapiens protein O-fucosyltransferase 2, mRNA (cDNA clone MGC:74914 IMAGE:5727996), complete cds.
AL110285 - Homo sapiens mRNA; cDNA DKFZp434E171 (from clone DKFZp434E171).
AB023175 - Homo sapiens KIAA0958 mRNA for KIAA0958 protein.
AJ302079 - Homo sapiens partial mRNA for C21orf80 protein, form B.
AJ302080 - Homo sapiens mRNA for C21orf80 protein, form A.
AY066015 - Homo sapiens C21orf80 protein form C (C21orf80) mRNA, complete cds.
BC011044 - Homo sapiens protein O-fucosyltransferase 2, mRNA (cDNA clone IMAGE:4156484), complete cds.
DQ590428 - Homo sapiens piRNA piR-57540, complete sequence.
AJ575591 - Homo sapiens mRNA for putative protein-O-fucosyltransferase (FUT13 gene).
AK290732 - Homo sapiens cDNA FLJ76271 complete cds, highly similar to Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.
LF322978 - JP 2014500723-A/130481: Polycomb-Associated Non-Coding RNAs.
LF322977 - JP 2014500723-A/130480: Polycomb-Associated Non-Coding RNAs.
AB384059 - Synthetic construct DNA, clone: pF1KSDA0958, Homo sapiens POFUT2 gene for GDP-fucose protein O-fucosyltransferase 2 precursor, complete cds, without stop codon, in Flexi system.
LF322976 - JP 2014500723-A/130479: Polycomb-Associated Non-Coding RNAs.
LF322975 - JP 2014500723-A/130478: Polycomb-Associated Non-Coding RNAs.
AK298080 - Homo sapiens cDNA FLJ56685 complete cds, highly similar to GDP-fucose protein O-fucosyltransferase 2 precursor (EC 2.4.1.221).
HG380510 - Homo sapiens mRNA for protein O-fucosyltransferase 2 (POFUT2 gene), variant 1.
LF322974 - JP 2014500723-A/130477: Polycomb-Associated Non-Coding RNAs.
AK294966 - Homo sapiens cDNA FLJ56644 complete cds, highly similar to GDP-fucose protein O-fucosyltransferase 2 precursor (EC 2.4.1.221).
HG380511 - Homo sapiens mRNA for protein O-fucosyltransferase 2 (POFUT2 gene), variant 2.
JD476116 - Sequence 457140 from Patent EP1572962.
MA620230 - JP 2018138019-A/192156: Polycomb-Associated Non-Coding RNAs.
MA558555 - JP 2018138019-A/130481: Polycomb-Associated Non-Coding RNAs.
MA558554 - JP 2018138019-A/130480: Polycomb-Associated Non-Coding RNAs.
MA558553 - JP 2018138019-A/130479: Polycomb-Associated Non-Coding RNAs.
MA558552 - JP 2018138019-A/130478: Polycomb-Associated Non-Coding RNAs.
MA558551 - JP 2018138019-A/130477: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y2G5 (Reactome details) participates in the following event(s):

R-HSA-5173192 POFUT2 transfers fucose to TSR domain-containing proteins
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins
R-HSA-5173105 O-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: C21orf80, ENST00000349485.1, ENST00000349485.2, ENST00000349485.3, ENST00000349485.4, ENST00000349485.5, ENST00000349485.6, ENST00000349485.7, ENST00000349485.8, ENST00000349485.9, FUT13, KIAA0958, NM_133635, OFUT2_HUMAN, Q6PJV1, Q7Z4N0, Q8WWU6, Q9BQS4, Q9BQS5, Q9UFY3, Q9Y2G5, uc317xvn.1, uc317xvn.2
UCSC ID: ENST00000349485.10_7
RefSeq Accession: NM_133635.6
Protein: Q9Y2G5 (aka OFUT2_HUMAN or OFU2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.