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

Gene ID: 23275, updated on 17-Jun-2024

Summary

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

See POFUT2 in Genome Data Viewer
Location:
21q22.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (45263935..45287895, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43627968..43651850, complement)
105.20220307 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

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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_015227.6NP_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:45379
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50379
    O-FucT; GDP-fucose protein O-fucosyltransferase
  2. NM_133635.6NP_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:45414
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50408
    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_2023_10

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_047440723.1XP_047296679.1  GDP-fucose protein O-fucosyltransferase 2 isoform X4

    UniProtKB/TrEMBL
    A8K3W7
  2. XM_017028306.3XP_016883795.1  GDP-fucose protein O-fucosyltransferase 2 isoform X9

    UniProtKB/TrEMBL
    A8K3W7
  3. XM_047440721.1XP_047296677.1  GDP-fucose protein O-fucosyltransferase 2 isoform X1

    UniProtKB/TrEMBL
    A8K3W7
  4. XM_006723981.5XP_006724044.1  GDP-fucose protein O-fucosyltransferase 2 isoform X5

    UniProtKB/TrEMBL
    A8K3W7
    Conserved Domains (2) summary
    cd11298
    Location:45434
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50428
    O-FucT; GDP-fucose protein O-fucosyltransferase
  5. XM_011529504.4XP_011527806.1  GDP-fucose protein O-fucosyltransferase 2 isoform X2

    UniProtKB/TrEMBL
    A8K3W7
    Conserved Domains (2) summary
    cd11298
    Location:45479
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50473
    O-FucT; GDP-fucose protein O-fucosyltransferase
  6. XM_011529507.4XP_011527809.1  GDP-fucose protein O-fucosyltransferase 2 isoform X7

    UniProtKB/TrEMBL
    A8K3W7
    Conserved Domains (2) summary
    cd11298
    Location:45424
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50418
    O-FucT; GDP-fucose protein O-fucosyltransferase
  7. XM_047440727.1XP_047296683.1  GDP-fucose protein O-fucosyltransferase 2 isoform X15

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

    Conserved Domains (2) summary
    cd11298
    Location:12252
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:40246
    O-FucT; GDP-fucose protein O-fucosyltransferase
  9. XM_047440728.1XP_047296684.1  GDP-fucose protein O-fucosyltransferase 2 isoform X15

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

    UniProtKB/TrEMBL
    A8K3W7
  11. XM_047440724.1XP_047296680.1  GDP-fucose protein O-fucosyltransferase 2 isoform X6

    UniProtKB/TrEMBL
    A8K3W7
  12. XM_047440722.1XP_047296678.1  GDP-fucose protein O-fucosyltransferase 2 isoform X3

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

    Conserved Domains (2) summary
    cd11298
    Location:45342
    O-FucT-2; GDP-fucose protein O-fucosyltransferase 2
    pfam10250
    Location:50325
    O-FucT; GDP-fucose protein O-fucosyltransferase
  14. XM_011529509.4XP_011527811.1  GDP-fucose protein O-fucosyltransferase 2 isoform X11

    Conserved Domains (1) summary
    cl16914
    Location:45301
    O-FucT_like; GDP-fucose protein O-fucosyltransferase and related proteins
  15. XM_047440726.1XP_047296682.1  GDP-fucose protein O-fucosyltransferase 2 isoform X14

  16. XM_011529511.4XP_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:45196
    O-FucT_like; GDP-fucose protein O-fucosyltransferase and related proteins
  17. XM_011529513.4XP_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:45195
    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_054324391.1XP_054180366.1  GDP-fucose protein O-fucosyltransferase 2 isoform X4

    UniProtKB/TrEMBL
    A8K3W7
  2. XM_054324396.1XP_054180371.1  GDP-fucose protein O-fucosyltransferase 2 isoform X9

    UniProtKB/TrEMBL
    A8K3W7
  3. XM_054324388.1XP_054180363.1  GDP-fucose protein O-fucosyltransferase 2 isoform X1

    UniProtKB/TrEMBL
    A8K3W7
  4. XM_054324392.1XP_054180367.1  GDP-fucose protein O-fucosyltransferase 2 isoform X5

    UniProtKB/TrEMBL
    A8K3W7
  5. XM_054324389.1XP_054180364.1  GDP-fucose protein O-fucosyltransferase 2 isoform X2

    UniProtKB/TrEMBL
    A8K3W7
  6. XM_054324394.1XP_054180369.1  GDP-fucose protein O-fucosyltransferase 2 isoform X7

    UniProtKB/TrEMBL
    A8K3W7
  7. XM_054324402.1XP_054180377.1  GDP-fucose protein O-fucosyltransferase 2 isoform X15

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

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

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

    UniProtKB/TrEMBL
    A8K3W7
  11. XM_054324393.1XP_054180368.1  GDP-fucose protein O-fucosyltransferase 2 isoform X6

    UniProtKB/TrEMBL
    A8K3W7
  12. XM_054324390.1XP_054180365.1  GDP-fucose protein O-fucosyltransferase 2 isoform X3

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

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

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

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

  17. XM_054324404.1XP_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.