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 (L... See more...

Aliases for POFUT2 Gene

Aliases for POFUT2 Gene

  • Protein O-Fucosyltransferase 2 2 3 5
  • GDP-Fucose Protein O-Fucosyltransferase 2 2 3 4
  • Peptide-O-Fucosyltransferase 2 3 4
  • EC 2.4.1.221 4 52
  • C21orf80 3 4
  • O-FucT-2 3 4
  • FUT13 3 4
  • Chromosome 21 Open Reading Frame 80 2
  • Peptide-O-Fucosyltransferase 2
  • KIAA0958 4

External Ids for POFUT2 Gene

Previous HGNC Symbols for POFUT2 Gene

  • C21orf80

Previous GeneCards Identifiers for POFUT2 Gene

  • GC21M045541
  • GC21M045508
  • GC21M046683
  • GC21M032055

Summaries for POFUT2 Gene

Entrez Gene Summary for POFUT2 Gene

  • 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]

GeneCards Summary for POFUT2 Gene

POFUT2 (Protein O-Fucosyltransferase 2) is a Protein Coding gene. Diseases associated with POFUT2 include Peters-Plus Syndrome and Hyperinsulinemic Hypoglycemia, Familial, 7. Among its related pathways are Metabolism of proteins and O-glycosylation of TSR domain-containing proteins. Gene Ontology (GO) annotations related to this gene include fucosyltransferase activity and peptide-O-fucosyltransferase activity.

UniProtKB/Swiss-Prot Summary for POFUT2 Gene

  • Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X(2,3)-S/T-C2-X(2)-G of thrombospondin type 1 repeats where C1 and C2 are the first and second cysteines, respectively. O-fucosylates members of several protein families including the ADAMTS family, the thrombosporin (TSP) and spondin families. The O-fucosylation of TSRs is also required for restricting epithelial to mesenchymal transition (EMT), maintaining the correct patterning of mesoderm and localization of the definite endoderm (By similarity). Required for the proper secretion of ADAMTS family members such as ADAMSL1 and ADAMST13.

Additional gene information for POFUT2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POFUT2 Gene

Genomics for POFUT2 Gene

GeneHancer (GH) Regulatory Elements for POFUT2 Gene

Promoters and enhancers for POFUT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POFUT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POFUT2

Top Transcription factor binding sites by QIAGEN in the POFUT2 gene promoter:
  • c-Myc
  • C/EBPalpha
  • ER-alpha
  • FOXO4
  • Max
  • RP58
  • Spz1
  • TBP
  • USF-1
  • USF1

Genomic Locations for POFUT2 Gene

Genomic Locations for POFUT2 Gene
chr21:45,263,928-45,287,899
(GRCh38/hg38)
Size:
23,972 bases
Orientation:
Minus strand
chr21:46,683,843-46,707,813
(GRCh37/hg19)
Size:
23,971 bases
Orientation:
Minus strand

Genomic View for POFUT2 Gene

Genes around POFUT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POFUT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POFUT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POFUT2 Gene

Proteins for POFUT2 Gene

  • Protein details for POFUT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2G5-OFUT2_HUMAN
    Recommended name:
    GDP-fucose protein O-fucosyltransferase 2
    Protein Accession:
    Q9Y2G5
    Secondary Accessions:
    • Q6PJV1
    • Q7Z4N0
    • Q8WWU6
    • Q9BQS4
    • Q9BQS5
    • Q9UFY3

    Protein attributes for POFUT2 Gene

    Size:
    429 amino acids
    Molecular mass:
    49976 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76802.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAB90496.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POFUT2 Gene

    Alternative splice isoforms for POFUT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POFUT2 Gene

Selected DME Specific Peptides for POFUT2 Gene

Q9Y2G5:
  • LVLPPWGRL
  • EGFNLRRDVY

Post-translational modifications for POFUT2 Gene

  • Glycosylation at Asn189, Asn209, and Asn259
  • Modification sites at PhosphoSitePlus

Domains & Families for POFUT2 Gene

Gene Families for POFUT2 Gene

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

Protein Domains for POFUT2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POFUT2 Gene

GenScript: Design optimal peptide antigens:
  • Peptide-O-fucosyltransferase 2 (OFUT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2G5

UniProtKB/Swiss-Prot:

OFUT2_HUMAN :
  • Belongs to the glycosyltransferase 68 family.
Family:
  • Belongs to the glycosyltransferase 68 family.
genes like me logo Genes that share domains with POFUT2: view

Function for POFUT2 Gene

Molecular function for POFUT2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X(2,3)-S/T-C2-X(2)-G of thrombospondin type 1 repeats where C1 and C2 are the first and second cysteines, respectively. O-fucosylates members of several protein families including the ADAMTS family, the thrombosporin (TSP) and spondin families. The O-fucosylation of TSRs is also required for restricting epithelial to mesenchymal transition (EMT), maintaining the correct patterning of mesoderm and localization of the definite endoderm (By similarity). Required for the proper secretion of ADAMTS family members such as ADAMSL1 and ADAMST13.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Transfers an alpha-L-fucosyl residue from GDP-beta-L-fucose to the serine hydroxy group of a protein acceptor.; EC=2.4.1.221; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by EDTA and by Zn(2+).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=9.8 uM for GDP-fucose {ECO:0000269 PubMed:22588082};

Enzyme Numbers (IUBMB) for POFUT2 Gene

Phenotypes From GWAS Catalog for POFUT2 Gene

Gene Ontology (GO) - Molecular Function for POFUT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008417 fucosyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046922 peptide-O-fucosyltransferase activity TAS --
genes like me logo Genes that share ontologies with POFUT2: view
genes like me logo Genes that share phenotypes with POFUT2: view

Animal Models for POFUT2 Gene

MGI Knock Outs for POFUT2:

Animal Model Products

  • Taconic Biosciences Mouse Models for POFUT2

CRISPR Products

miRNA for POFUT2 Gene

miRTarBase miRNAs that target POFUT2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POFUT2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POFUT2 Gene

Localization for POFUT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POFUT2 Gene

Endoplasmic reticulum. Golgi apparatus. Note=Mainly located in the endoplasmic reticulum.

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 POFUT2 gene
Compartment Confidence
golgi apparatus 5
extracellular 4
endoplasmic reticulum 4
plasma membrane 1
cytoskeleton 1
nucleus 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for POFUT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IDA,IEA 15233996
genes like me logo Genes that share ontologies with POFUT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POFUT2 Gene

Pathways & Interactions for POFUT2 Gene

genes like me logo Genes that share pathways with POFUT2: view

UniProtKB/Swiss-Prot Q9Y2G5-OFUT2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for POFUT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001707 mesoderm formation IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006004 fucose metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0010468 regulation of gene expression IEA --
genes like me logo Genes that share ontologies with POFUT2: view

No data available for SIGNOR curated interactions for POFUT2 Gene

Drugs & Compounds for POFUT2 Gene

(1) Drugs for POFUT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with POFUT2: view

Transcripts for POFUT2 Gene

mRNA/cDNA for POFUT2 Gene

3 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
14 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 POFUT2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POFUT2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - -
SP4: - - -
SP5: - - - -
SP6: - - - - - - - -
SP7: - - - - -
SP8: -
SP9: - - -
SP10: - -
SP11: - - -
SP12:
SP13:
SP14:

Relevant External Links for POFUT2 Gene

GeneLoc Exon Structure for
POFUT2

Expression for POFUT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POFUT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POFUT2 Gene

This gene is overexpressed in Heart (18.7) and Bone marrow stromal cell (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POFUT2 Gene



Protein tissue co-expression partners for POFUT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POFUT2

SOURCE GeneReport for Unigene cluster for POFUT2 Gene:

Hs.592164

mRNA Expression by UniProt/SwissProt for POFUT2 Gene:

Q9Y2G5-OFUT2_HUMAN
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.

Evidence on tissue expression from TISSUES for POFUT2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with POFUT2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for POFUT2 Gene

Orthologs for POFUT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for POFUT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POFUT2 31 30
  • 99.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POFUT2 31 30
  • 85.15 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pofut2 30
  • 84.3 (n)
cow
(Bos Taurus)
Mammalia POFUT2 31 30
  • 84.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pofut2 17 31 30
  • 84.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia POFUT2 31
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POFUT2 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves FUT13 31
  • 77 (a)
OneToOne
POFUT2 30
  • 74.49 (n)
lizard
(Anolis carolinensis)
Reptilia POFUT2 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pofut2 30
  • 72.73 (n)
zebrafish
(Danio rerio)
Actinopterygii pofut2 31 30
  • 69.27 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000757 30
  • 53.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta O-fut2 31 30
  • 50.93 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pad-2 31 30
  • 53.75 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 49 (a)
OneToOne
Cin.14142 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14142 30
Species where no ortholog for POFUT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for POFUT2 Gene

ENSEMBL:
Gene Tree for POFUT2 (if available)
TreeFam:
Gene Tree for POFUT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POFUT2: view image

Paralogs for POFUT2 Gene

No data available for Paralogs for POFUT2 Gene

Variants for POFUT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POFUT2 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
718579 Benign: not provided 45,269,881(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
727489 Benign: not provided 45,265,635(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
780629 Benign: not provided 45,283,495(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for POFUT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for POFUT2 Gene

Variant ID Type Subtype PubMed ID
dgv2408n106 CNV deletion 24896259
dgv7899n54 CNV gain 21841781
esv2723726 CNV deletion 23290073
esv2762114 CNV gain 21179565
nsv1073139 CNV deletion 25765185
nsv1142578 CNV deletion 24896259
nsv509802 CNV insertion 20534489
nsv953652 CNV deletion 24416366

Variation tolerance for POFUT2 Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POFUT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POFUT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POFUT2 Gene

Disorders for POFUT2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for POFUT2 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POFUT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POFUT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POFUT2 Gene

Publications for POFUT2 Gene

  1. O-fucosylation is required for ADAMTS13 secretion. (PMID: 17395589) Ricketts LM … Majerus EM (The Journal of biological chemistry 2007) 3 4 23 54
  2. The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development. (PMID: 15233996) Menzel O … Guipponi M (Genomics 2004) 3 4 23 54
  3. Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation. (PMID: 22588082) Chen CI … Gut H (The EMBO journal 2012) 3 4 54
  4. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T … Zhu X (Human genetics 2010) 3 41 54
  5. O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily. (PMID: 17395588) Wang LW … Apte SS (The Journal of biological chemistry 2007) 4 23 54

Products for POFUT2 Gene

Sources for POFUT2 Gene