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    FUT2 fucosyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 2524, updated on 12-Mar-2017
    Official Symbol
    FUT2provided by HGNC
    Official Full Name
    fucosyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:4013
    See related
    Ensembl:ENSG00000176920 MIM:182100; Vega:OTTHUMG00000164427
    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
    The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    19q13.33
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (48695971..48705934)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49199228..49209191)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene secretory blood group 1, pseudogene Neighboring gene uncharacterized LOC105372431 Neighboring gene netrin 5 Neighboring gene uncharacterized LOC105447645 Neighboring gene MEF2 activating motif and SAP domain containing transcriptional regulator Neighboring gene Ras interacting protein 1 Neighboring gene izumo sperm-egg fusion 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    fucosyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    galactoside 2-alpha-L-fucosyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    L-fucose catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    fucosylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein glycosylation TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus TAS
    Traceable Author Statement
    more info
    PubMed 
    Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    galactoside 2-alpha-L-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
    secretor blood group alpha-2-fucosyltransferase
    secretor factor
    NP_000502.4
    NP_001091107.1

    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..14964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000511.5NP_000502.4  galactoside 2-alpha-L-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
      Q10981
      UniProtKB/TrEMBL
      A8K2L2
      Related
      ENSP00000387498, OTTHUMP00000226682, ENST00000425340, OTTHUMT00000378731
      Conserved Domains (1) summary
      pfam01531
      Location:21334
      Glyco_transf_11; Glycosyl transferase family 11
    2. NM_001097638.2NP_001091107.1  galactoside 2-alpha-L-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
      Q10981
      UniProtKB/TrEMBL
      A8K2L2
      Related
      ENSP00000375748, ENST00000391876
      Conserved Domains (1) summary
      pfam01531
      Location:21334
      Glyco_transf_11; Glycosyl transferase family 11

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      48695971..48705934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      49200850..49210957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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