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

Gene ID: 2524, updated on 2-Nov-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
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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: 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. 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.

Chemical Information
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