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    FUT2 fucosyltransferase 2 (H blood group) [ Homo sapiens (human) ]

    Gene ID: 2524, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FUT2provided by HGNC
    Official Full Name
    fucosyltransferase 2 (H blood group)provided by HGNC
    Primary source
    HGNC:HGNC:4013
    See related
    Ensembl:ENSG00000176920 MIM:182100; AllianceGenome:HGNC:4013
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SE; Se2; sej; SEC2; B12QTL1
    Summary
    This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. The encoded protein is important for the final step in the soluble ABO blood group antigen synthesis pathway. It is also involved in cell-cell interaction, cell surface expression, and cell proliferation. Mutations in this gene are a cause of the H-Bombay blood group where red blood cells lack the H antigen. [provided by RefSeq, May 2022]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Biased expression in duodenum (RPKM 17.4), stomach (RPKM 16.4) and 11 other tissues See more
    Orthologs
    mouse all
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    Try the new Transcript table

    Genomic context

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    See FUT2 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48695971..48705951)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51690377..51700359)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49199228..49209208)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene secretory blood group 1, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49166921-49167422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49167423-49167922 Neighboring gene uncharacterized LOC105372431 Neighboring gene netrin 5 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:49177831-49178479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49178480-49179127 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49185967-49186241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49198499-49199062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49199627-49200190 Neighboring gene uncharacterized LOC105447645 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10899 Neighboring gene MEF2 activating motif and SAP domain containing transcriptional regulator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49223623-49224568 Neighboring gene uncharacterized LOC124904737 Neighboring gene Ras interacting protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49242120-49242659 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49249661-49250446 Neighboring gene izumo sperm-oocyte fusion 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci. Folseraas T, et al. J Hepatol, 2012 Aug. PMID 22521342, Free PMC Article
    2. TaqMan-based real-time polymerase chain reaction for detection of FUT2 copy number variations: identification of novel Alu-mediated deletion. Soejima M, et al. Transfusion, 2011 Apr. PMID 20880207
    3. ABH secretor status and reproductive success in couples with primary recurrent spontaneous abortion. Gloria-Bottini F, et al. J Obstet Gynaecol Res, 2011 Jan. PMID 21040203
    4. ABH secretor genetic polymorphism: evidence of intrauterine selection. Gloria-Bottini F, et al. Eur J Obstet Gynecol Reprod Biol, 2011 Jan. PMID 21056528
    5. Fucosyltransferase 2 non-secretor and low secretor status predicts severe outcomes in premature infants. Morrow AL, et al. J Pediatr, 2011 May. PMID 21256510, Free PMC Article

    See all (175) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FUT2 promotes colorectal cancer metastasis by reprogramming fatty acid metabolism via YAP/TAZ signaling and SREBP-1.
      Title: FUT2 promotes colorectal cancer metastasis by reprogramming fatty acid metabolism via YAP/TAZ signaling and SREBP-1.
    2. Chemo-sensory loss and FUT2 gene in COVID-19 infected Iraqi dentists.
      Title: Chemo-sensory loss and FUT2 gene in COVID-19 infected Iraqi dentists.
    3. Altered gut microbiome in FUT2 loss-of-function mutants in support of personalized medicine for inflammatory bowel diseases.
      Title: Altered gut microbiome in FUT2 loss-of-function mutants in support of personalized medicine for inflammatory bowel diseases.
    4. Association between antibiotic use during early life and early-onset colorectal cancer risk overall and according to polygenic risk and FUT2 genotypes.
      Title: Association between antibiotic use during early life and early-onset colorectal cancer risk overall and according to polygenic risk and FUT2 genotypes.
    5. Relationship between ABO Blood Group Alleles and Pancreatic Cancer Is Modulated by Secretor (FUT2) Genotype, but Not Lewis Antigen (FUT3) Genotype.
      Title: Relationship between ABO Blood Group Alleles and Pancreatic Cancer Is Modulated by Secretor (FUT2) Genotype, but Not Lewis Antigen (FUT3) Genotype.
    6. FUT2 promotes the tumorigenicity and metastasis of colorectal cancer cells via the Wnt/betacatenin pathway.
      Title: FUT2 promotes the tumorigenicity and metastasis of colorectal cancer cells via the Wnt/β‑catenin pathway.
    7. Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media.
      Title: Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media.
    8. Gut Microbiome Composition and Metabolic Capacity Differ by FUT2 Secretor Status in Exclusively Breastfed Infants.
      Title: Gut Microbiome Composition and Metabolic Capacity Differ by FUT2 Secretor Status in Exclusively Breastfed Infants.
    9. FUT2 Facilitates Autophagy and Suppresses Apoptosis via p53 and JNK Signaling in Lung Adenocarcinoma Cells.
      Title: FUT2 Facilitates Autophagy and Suppresses Apoptosis via p53 and JNK Signaling in Lung Adenocarcinoma Cells.
    10. Maternal and child FUT2 and FUT3 status demonstrate relationship with gut health, body composition and growth of children in Bangladesh.
      Title: Maternal and child FUT2 and FUT3 status demonstrate relationship with gut health, body composition and growth of children in Bangladesh.
    Submit: New GeneRIF Correction See all GeneRIFs (113)

    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

    Associated conditions

    Description Tests
    Bombay phenotype
    MedGen: C1859408 OMIM: 616754 GeneReviews: Not available
    		Compare labs
    Vitamin b12 plasma level quantitative trait locus 1
    MedGen: C2674252 OMIM: 612542 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
    EBI GWAS Catalog
    Common variants of FUT2 are associated with plasma vitamin B12 levels.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
    EBI GWAS Catalog
    Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study.
    EBI GWAS Catalog
    Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.
    EBI GWAS Catalog
    Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.
    EBI GWAS Catalog
    Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.
    EBI GWAS Catalog
    Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
    EBI GWAS Catalog
    Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Novel locus including FGF21 is associated with dietary macronutrient intake.
    EBI GWAS Catalog

    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 alpha-(1,2)-fucosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables fucosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables galactoside 2-alpha-L-fucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables galactoside 2-alpha-L-fucosyltransferase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-fucose catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in fucosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fucosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glycolipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glycosphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in oligosaccharide biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein glycosylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of endothelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    galactoside alpha-(1,2)-fucosyltransferase 2
    Names
    GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2
    alpha (1,2) fucosyltransferase
    alpha(1,2)FT 2
    alpha(1,2)FT2
    fucosyltransferase 2 (secretor status included)
    galactoside 2-L-fucosyltransferase
    galactoside 2-alpha-L-fucosyltransferase 2
    secretor blood group alpha-2-fucosyltransferase
    secretor factor
    type 1 galactoside alpha-(1,2)-fucosyltransferase FUT2
    type 2 galactoside alpha-(1,2)-fucosyltransferase FUT2
    NP_000502.4
    NP_001091107.1

    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.

    Genomic

    1. NG_007511.1 RefSeqGene

      Range
      5001..14981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_811

    mRNA and Protein(s)

    1. NM_000511.6 → NP_000502.4  galactoside alpha-(1,2)-fucosyltransferase 2

      See identical proteins and their annotated locations for NP_000502.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC008888, D87942, DA918525
      Consensus CDS
      CCDS33069.1
      UniProtKB/Swiss-Prot
      Q0VAG5, Q10981, Q14338, Q5D0G2
      UniProtKB/TrEMBL
      A0A7M4CF15, A8K2L2, B3W6G7, B5B9L6, Q5XLR8
      Related
      ENSP00000387498.2, ENST00000425340.3
      Conserved Domains (1) summary
      pfam01531
      Location:21 → 334
      Glyco_transf_11; Glycosyl transferase family 11

    2. NM_001097638.3 → NP_001091107.1  galactoside alpha-(1,2)-fucosyltransferase 2

      See identical proteins and their annotated locations for NP_001091107.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC008888, BE266792, DA918525
      Consensus CDS
      CCDS33069.1
      UniProtKB/Swiss-Prot
      Q0VAG5, Q10981, Q14338, Q5D0G2
      UniProtKB/TrEMBL
      A0A7M4CF15, A8K2L2, B3W6G7, B5B9L6, Q5XLR8
      Related
      ENSP00000430227.2, ENST00000522966.2
      Conserved Domains (1) summary
      pfam01531
      Location:21 → 334
      Glyco_transf_11; Glycosyl transferase family 11

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48695971..48705951
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51690377..51700359
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q10981.1 GenPept UniProtKB/Swiss-Prot:Q10981

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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