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FUT2 fucosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 2524, updated on 27-Jun-2020

Summary

Official Symbol
FUT2provided by HGNC
Official Full Name
fucosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:4013
See related
Ensembl:ENSG00000176920 MIM:182100
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]
Expression
Biased expression in duodenum (RPKM 17.4), stomach (RPKM 16.4) and 11 other tissues See more
Orthologs

Genomic context

See FUT2 in Genome Data Viewer
Location:
19q13.33
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (48695971..48705951)
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 netrin 5 Neighboring gene uncharacterized LOC105372431 Neighboring gene uncharacterized LOC105447645 Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element Neighboring gene MEF2 activating motif and SAP domain containing transcriptional regulator Neighboring gene Ras interacting protein 1

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?

Phenotypes

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-(1,2)-fucosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
fucosyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
galactoside 2-alpha-L-fucosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fucosylation ISS
Inferred from Sequence or Structural Similarity
more info
 
glycolipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
protein glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
protein glycosylation TAS
Traceable Author Statement
more info
PubMed 
regulation of cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of endothelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
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 HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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)

mRNA and Protein(s)

  1. NM_000511.6NP_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
    Q10981
    UniProtKB/TrEMBL
    A8K2L2
    Related
    ENSP00000387498.2, ENST00000425340.3
    Conserved Domains (1) summary
    pfam01531
    Location:21334
    Glyco_transf_11; Glycosyl transferase family 11
  2. NM_001097638.3NP_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
    Q10981
    UniProtKB/TrEMBL
    A8K2L2
    Related
    ENSP00000430227.2, ENST00000522966.2
    Conserved Domains (1) summary
    pfam01531
    Location:21334
    Glyco_transf_11; Glycosyl transferase family 11

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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