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

    Gene ID: 23275, updated on 10-Dec-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
    mouse all
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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

    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)

    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

      UniProtKB/TrEMBL
      A8K3W7

    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

      UniProtKB/TrEMBL
      A8K3W7

    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

      UniProtKB/TrEMBL
      A8K3W7

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

      UniProtKB/TrEMBL
      A8K3W7

    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

      UniProtKB/TrEMBL
      A8K3W7

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

      UniProtKB/TrEMBL
      A8K3W7

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

      UniProtKB/TrEMBL
      A8K3W7

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

      UniProtKB/TrEMBL
      A8K3W7

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

      UniProtKB/TrEMBL
      A8K3W7

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

      UniProtKB/TrEMBL
      A8K3W7

    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

      UniProtKB/TrEMBL
      A8K3W7

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

      UniProtKB/TrEMBL
      A8K3W7

    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
      B4DNV6, 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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