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POFUT2 protein O-fucosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 23275, updated on 2-Nov-2024

Summary

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Official Symbol
POFUT2provided by HGNC
Official Full Name
protein O-fucosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:14683
See related
Ensembl:ENSG00000186866 MIM:610249; AllianceGenome:HGNC:14683
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FUT13; C21orf80
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]
Expression
Ubiquitous expression in testis (RPKM 7.6), placenta (RPKM 6.4) and 25 other tissues See more
Orthologs
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Genomic context

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See POFUT2 in Genome Data Viewer
Location:
21q22.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (45263935..45287895, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43627968..43651850, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (46683850..46707810, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46513297-46513797 Neighboring gene adenosine deaminase RNA specific B1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46553428-46553928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46553929-46554429 Neighboring gene Sharpr-MPRA regulatory region 4412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46569001-46569596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46571268-46572124 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46580749-46581394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46622742-46623359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46626875-46627374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46640206-46640772 Neighboring gene long intergenic non-protein coding RNA 334 Neighboring gene U2 spliceosomal RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46675963-46676514 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:46699476-46700675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46708421-46709151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46711580-46712088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46712089-46712596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46714121-46714627 Neighboring gene long intergenic non-protein coding RNA 205 Neighboring gene uncharacterized LOC124905040

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Two distinct pathways for O-fucosylation of epidermal growth factor-like or thrombospondin type 1 repeats. Luo Y, et al. J Biol Chem, 2006 Apr 7. PMID 16464858
  2. The Essential Role of Water Molecules in the Reaction Mechanism of Protein O-Fucosyltransferase 2. Sanz-Martínez I, et al. Angew Chem Int Ed Engl, 2022 Nov 25. PMID 36260536, Free PMC Article
  3. Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation. Chen CI, et al. EMBO J, 2012 Jul 18. PMID 22588082, Free PMC Article
  4. Altered fucosyltransferase expression in the superior temporal gyrus of elderly patients with schizophrenia. Mueller TM, et al. Schizophr Res, 2017 Apr. PMID 27773385, Free PMC Article
  5. The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development. Menzel O, et al. Genomics, 2004 Aug. PMID 15233996

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Essential Role of Water Molecules in the Reaction Mechanism of Protein O-Fucosyltransferase 2.
    Title: The Essential Role of Water Molecules in the Reaction Mechanism of Protein O-Fucosyltransferase 2.
  2. This study demonstrated that the alteration of POFUT2 expression in the superior temporal gyrus of elderly patients with schizophrenia.
    Title: Altered fucosyltransferase expression in the superior temporal gyrus of elderly patients with schizophrenia.
  3. POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation.
    Title: Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.
  4. Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation.
    Title: Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation.
  5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide searching of rare genetic variants in WTCCC data.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables peptide-O-fucosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptide-O-fucosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables peptide-O-fucosyltransferase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in fucose metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in mesoderm formation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of protein folding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein O-linked fucosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein O-linked fucosylation TAS
Traceable Author Statement
more info
  
involved_in regulation of epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of secretion IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
GDP-fucose protein O-fucosyltransferase 2
Names
O-FucT-2
peptide-O-fucosyltransferase 2
NP_056042.1
NP_598368.2
XP_006724044.1
XP_011527806.1
XP_011527809.1
XP_011527810.1
XP_011527811.1
XP_011527812.1
XP_011527813.1
XP_011527815.1
XP_016883795.1
XP_047296677.1
XP_047296678.1
XP_047296679.1
XP_047296680.1
XP_047296681.1
XP_047296682.1
XP_047296683.1
XP_047296684.1
XP_054180363.1
XP_054180364.1
XP_054180365.1
XP_054180366.1
XP_054180367.1
XP_054180368.1
XP_054180369.1
XP_054180370.1
XP_054180371.1
XP_054180372.1
XP_054180373.1
XP_054180374.1
XP_054180375.1
XP_054180376.1
XP_054180377.1
XP_054180378.1
XP_054180379.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015227.6 → NP_056042.1  GDP-fucose protein O-fucosyltransferase 2 isoform A precursor

    See identical proteins and their annotated locations for NP_056042.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform A.
    Source sequence(s)
    AJ302080, BC000626, BI560842, BX322557, CN429387
    Consensus CDS
    CCDS13721.1
    UniProtKB/TrEMBL
    A8K3W7
    Related
    ENSP00000329682.7, ENST00000331343.11
    Conserved Domains (2) summary
    cd11298
    Location:45 → 379
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50 → 379
    O-FucT; GDP-fucose protein O-fucosyltransferase

  2. NM_133635.6 → NP_598368.2  GDP-fucose protein O-fucosyltransferase 2 isoform C precursor

    See identical proteins and their annotated locations for NP_598368.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (C) is longer and differs in the C-terminus compared to isoform A.
    Source sequence(s)
    AB023175, BC064623, BI560842, CA425603
    Consensus CDS
    CCDS13719.1
    UniProtKB/Swiss-Prot
    Q6PJV1, Q7Z4N0, Q8WWU6, Q9BQS4, Q9BQS5, Q9UFY3, Q9Y2G5
    UniProtKB/TrEMBL
    A8K3W7
    Related
    ENSP00000339613.5, ENST00000349485.10
    Conserved Domains (2) summary
    cd11298
    Location:45 → 414
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50 → 408
    O-FucT; GDP-fucose protein O-fucosyltransferase

RNA

  1. NR_004858.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region, compared to variant 1. TThis variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AJ302079, BI560842, CA425603
    Related
    ENST00000334538.13

  2. NR_148026.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BF509463, BX322557, HY006370

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    45263935..45287895 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440723.1 → XP_047296679.1  GDP-fucose protein O-fucosyltransferase 2 isoform X4

  2. XM_017028306.3 → XP_016883795.1  GDP-fucose protein O-fucosyltransferase 2 isoform X9

    UniProtKB/TrEMBL
    A8K3W7

  3. XM_047440721.1 → XP_047296677.1  GDP-fucose protein O-fucosyltransferase 2 isoform X1

  4. XM_006723981.5 → XP_006724044.1  GDP-fucose protein O-fucosyltransferase 2 isoform X5

    UniProtKB/TrEMBL
    A8K3W7
    Conserved Domains (2) summary
    cd11298
    Location:45 → 434
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50 → 428
    O-FucT; GDP-fucose protein O-fucosyltransferase

  5. XM_011529504.4 → XP_011527806.1  GDP-fucose protein O-fucosyltransferase 2 isoform X2

    UniProtKB/TrEMBL
    A8K3W7
    Conserved Domains (2) summary
    cd11298
    Location:45 → 479
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50 → 473
    O-FucT; GDP-fucose protein O-fucosyltransferase

  6. XM_011529507.4 → XP_011527809.1  GDP-fucose protein O-fucosyltransferase 2 isoform X7

    UniProtKB/TrEMBL
    A8K3W7
    Conserved Domains (2) summary
    cd11298
    Location:45 → 424
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50 → 418
    O-FucT; GDP-fucose protein O-fucosyltransferase

  7. XM_047440727.1 → XP_047296683.1  GDP-fucose protein O-fucosyltransferase 2 isoform X15

  8. XM_011529510.3 → XP_011527812.1  GDP-fucose protein O-fucosyltransferase 2 isoform X12

    Conserved Domains (2) summary
    cd11298
    Location:12 → 252
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:40 → 246
    O-FucT; GDP-fucose protein O-fucosyltransferase

  9. XM_047440728.1 → XP_047296684.1  GDP-fucose protein O-fucosyltransferase 2 isoform X15

  10. XM_047440725.1 → XP_047296681.1  GDP-fucose protein O-fucosyltransferase 2 isoform X8

  11. XM_047440724.1 → XP_047296680.1  GDP-fucose protein O-fucosyltransferase 2 isoform X6

  12. XM_047440722.1 → XP_047296678.1  GDP-fucose protein O-fucosyltransferase 2 isoform X3

  13. XM_011529508.4 → XP_011527810.1  GDP-fucose protein O-fucosyltransferase 2 isoform X10

    Conserved Domains (2) summary
    cd11298
    Location:45 → 342
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50 → 325
    O-FucT; GDP-fucose protein O-fucosyltransferase

  14. XM_011529509.4 → XP_011527811.1  GDP-fucose protein O-fucosyltransferase 2 isoform X11

    Conserved Domains (1) summary
    cl16914
    Location:45 → 301
    O-FucT_like; GDP-fucose protein O-fucosyltransferase and related proteins

  15. XM_047440726.1 → XP_047296682.1  GDP-fucose protein O-fucosyltransferase 2 isoform X14

  16. XM_011529511.4 → XP_011527813.1  GDP-fucose protein O-fucosyltransferase 2 isoform X13

    See identical proteins and their annotated locations for XP_011527813.1

    Conserved Domains (1) summary
    cl16914
    Location:45 → 196
    O-FucT_like; GDP-fucose protein O-fucosyltransferase and related proteins

  17. XM_011529513.4 → XP_011527815.1  GDP-fucose protein O-fucosyltransferase 2 isoform X16

    See identical proteins and their annotated locations for XP_011527815.1

    UniProtKB/TrEMBL
    B4DNV6, S6FW71
    Related
    ENSP00000478168.1, ENST00000612472.4
    Conserved Domains (1) summary
    cl16914
    Location:45 → 195
    O-FucT_like; GDP-fucose protein O-fucosyltransferase and related proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    43627968..43651850 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324391.1 → XP_054180366.1  GDP-fucose protein O-fucosyltransferase 2 isoform X4

  2. XM_054324396.1 → XP_054180371.1  GDP-fucose protein O-fucosyltransferase 2 isoform X9

  3. XM_054324388.1 → XP_054180363.1  GDP-fucose protein O-fucosyltransferase 2 isoform X1

  4. XM_054324392.1 → XP_054180367.1  GDP-fucose protein O-fucosyltransferase 2 isoform X5

  5. XM_054324389.1 → XP_054180364.1  GDP-fucose protein O-fucosyltransferase 2 isoform X2

  6. XM_054324394.1 → XP_054180369.1  GDP-fucose protein O-fucosyltransferase 2 isoform X7

  7. XM_054324402.1 → XP_054180377.1  GDP-fucose protein O-fucosyltransferase 2 isoform X15

  8. XM_054324399.1 → XP_054180374.1  GDP-fucose protein O-fucosyltransferase 2 isoform X12

  9. XM_054324403.1 → XP_054180378.1  GDP-fucose protein O-fucosyltransferase 2 isoform X15

  10. XM_054324395.1 → XP_054180370.1  GDP-fucose protein O-fucosyltransferase 2 isoform X8

  11. XM_054324393.1 → XP_054180368.1  GDP-fucose protein O-fucosyltransferase 2 isoform X6

  12. XM_054324390.1 → XP_054180365.1  GDP-fucose protein O-fucosyltransferase 2 isoform X3

  13. XM_054324397.1 → XP_054180372.1  GDP-fucose protein O-fucosyltransferase 2 isoform X10

  14. XM_054324398.1 → XP_054180373.1  GDP-fucose protein O-fucosyltransferase 2 isoform X11

  15. XM_054324401.1 → XP_054180376.1  GDP-fucose protein O-fucosyltransferase 2 isoform X14

  16. XM_054324400.1 → XP_054180375.1  GDP-fucose protein O-fucosyltransferase 2 isoform X13

  17. XM_054324404.1 → XP_054180379.1  GDP-fucose protein O-fucosyltransferase 2 isoform X16

    UniProtKB/TrEMBL
    S6FW71

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_133634.3: Suppressed sequence

    Description
    NM_133634.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2G5.3 GenPept UniProtKB/Swiss-Prot:Q9Y2G5

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