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FUT2 fucosyltransferase 2 (secretor status included) [ Homo sapiens (human) ]

Gene ID: 2524, updated on 12-Jun-2014
Official Symbol
FUT2provided by HGNC
Official Full Name
fucosyltransferase 2 (secretor status included)provided by HGNC
Primary source
HGNC:4013
See related
Ensembl:ENSG00000176920; HPRD:01629; 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]
See FUT2 in Epigenomics, MapViewer
Location:
19q13.3
Exon count :
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 carbonic anhydrase XI Neighboring gene netrin 5 Neighboring gene MEF2 activating motif and SAP domain containing transcriptional regulator Neighboring gene Ras interacting protein 1 Neighboring gene izumo sperm-egg fusion 1

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
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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
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 is associated with Crohn's disease.
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 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

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
 
fucosylation TAS
Traceable Author Statement
more info
PubMed 
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 vesicular 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
galactoside 2-alpha-L-fucosyltransferase 2
alpha(1,2)FT2
alpha(1,2)FT 2
secretor factor
alpha (1,2) fucosyltransferase
secretor blood group alpha-2-fucosyltransferase
GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2
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 

    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 proteins identical to 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/TrEMBL
    A8K2L2
    UniProtKB/Swiss-Prot
    Q10981
    Related
    ENSP00000387498, OTTHUMP00000226682, ENST00000425340, OTTHUMT00000378731
    Conserved Domains (1) summary
    cd11301
    Location:69322
    Blast Score: 538
    Fut1_Fut2_like; Alpha-1,2-fucosyltransferase
  2. NM_001097638.2NP_001091107.1  galactoside 2-alpha-L-fucosyltransferase 2

    See proteins identical to 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/TrEMBL
    A8K2L2
    UniProtKB/Swiss-Prot
    Q10981
    Conserved Domains (1) summary
    cd11301
    Location:69322
    Blast Score: 538
    Fut1_Fut2_like; Alpha-1,2-fucosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

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

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    45578136..45588563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

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

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