FUT2

Summary

FUT2 (fucosyltransferase 2 (H blood group), HGNC:4013) is a protein-coding gene on chromosome 19q13.33, encoding Galactoside alpha-(1,2)-fucosyltransferase 2 (Q10981). Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the terminal galactose on both O- and N-linked glycans chains of cell surface glycoproteins and glycolipids and the resulting epitope regulates several processes such as cell-cell interaction incl….

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.

Source: NCBI Gene 2524 — RefSeq curated summary.

At a glance

• GWAS associations: 82
• Clinical variants (ClinVar): 67 total — 1 pathogenic
• Phenotypes (HPO): 1
• Druggable target: yes
• MANE Select transcript: NM_000511

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4013
Approved symbol	FUT2
Name	fucosyltransferase 2 (H blood group)
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	sej, Se2, SEC2
Ensembl gene	ENSG00000176920
Ensembl biotype	protein_coding
OMIM	182100
Entrez	2524

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000425340, ENST00000522283, ENST00000522966, ENST00000960751, ENST00000960752

RefSeq mRNA: 2 — MANE Select: NM_000511 NM_000511, NM_001097638

CCDS: CCDS33069

Canonical transcript exons

ENST00000425340 — 2 exons

Exon	Start	End
ENSE00001714831	48695971	48696089
ENSE00002097292	48702955	48705951

Expression profiles

Bgee: expression breadth ubiquitous, 198 present calls, max score 94.99.

FANTOM5 (CAGE): breadth broad, TPM avg 1.1885 / max 133.8750, expressed in 237 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176818	1.1885	237

Top tissues by expression

277 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
olfactory segment of nasal mucosa	UBERON:0005386	94.99	gold quality
nasal cavity epithelium	UBERON:0005384	94.67	gold quality
minor salivary gland	UBERON:0001830	94.65	gold quality
pancreatic ductal cell	CL:0002079	93.47	gold quality
mouth mucosa	UBERON:0003729	93.29	gold quality
saliva-secreting gland	UBERON:0001044	92.41	gold quality
nasal cavity mucosa	UBERON:0001826	91.89	gold quality
mucosa of transverse colon	UBERON:0004991	91.82	gold quality
buccal mucosa cell	CL:0002336	91.56	gold quality
duodenum	UBERON:0002114	90.98	gold quality
oral cavity	UBERON:0000167	89.45	gold quality
rectum	UBERON:0001052	89.09	gold quality
palpebral conjunctiva	UBERON:0001812	87.93	gold quality
esophagus mucosa	UBERON:0002469	87.91	gold quality
cervix squamous epithelium	UBERON:0006922	87.86	silver quality
esophagus squamous epithelium	UBERON:0006920	87.58	gold quality
ileal mucosa	UBERON:0000331	87.53	gold quality
epithelium of esophagus	UBERON:0001976	87.37	gold quality
colonic mucosa	UBERON:0000317	86.70	gold quality
squamous epithelium	UBERON:0006914	86.65	gold quality
jejunal mucosa	UBERON:0000399	86.58	gold quality
mucosa of sigmoid colon	UBERON:0004993	86.03	gold quality
gall bladder	UBERON:0002110	85.91	gold quality
cervix epithelium	UBERON:0004801	85.27	silver quality
gingiva	UBERON:0001828	85.10	gold quality
epithelium of nasopharynx	UBERON:0001951	85.04	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.79	gold quality
gingival epithelium	UBERON:0001949	83.14	gold quality
transverse colon	UBERON:0001157	82.94	gold quality
tongue squamous epithelium	UBERON:0006919	82.65	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-86618	yes	194.81
E-CURD-114	yes	44.67
E-ANND-3	yes	8.70

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CDX2, SPI1

miRNA regulators (miRDB)

46 targeting FUT2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-892A	99.54	68.16	1141
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-183-5P	99.31	72.27	1164
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-4717-3P	99.06	66.34	1072
HSA-MIR-7151-3P	99.04	69.72	2370

Literature-anchored findings (GeneRIF, showing 40)

• Analysis of mutations and polymorphisms reveals that Taiwan aborigines are of Austronesian derivation. (PMID:11916003)
• Data show the nt357 c–>t mutation in their FUT2 gene of 10 para-Bombay individuals in China. (PMID:15476160)
• Our results suggest a regional allele preference of h-alleles associated with para-Bombay individuals in Taiwan. (PMID:15487706)
• Finds novel tetrameric short tandem repeat (FUT2/01)located 3.8 kb from 3’ end of FUT2 coding region in African and European populations (PMID:15757249)
• Higher expression of Lewis y/b was more often found in high grade and poor prognosis tumours compared to good prognosis breast cancers. (PMID:16168124)
• A strong correlation (P = 0.003) was found between the secretor phenotype and symptomatic disease, extending previous knowledge and confirming that nonsense mutations in the FUT2 gene provide protection against symptomatic norovirus (GGII.4) infections. (PMID:17537929)
• This study identified 18 sequence variations in the FUT2 gene, and 6 were novel; the frequencies of alleles and genotypes were also determined in Chinese and Caucasian persons. (PMID:17655580)
• analyzed the sequence variations in the proximal promoter region of FUT2 in several human populations (PMID:17805536)
• Molecular genetic analysis of FUT1 and FUT2 gene was performed for seven Chinese Han individuals serologically typed as para-Bombay. (PMID:17922418)
• hybrid allele of Sec1-FUT2-Sec1 was found; DNA sequence suggested the Sec1-FUT2-Sec1 allele contains a 275-bp sequence identical to the FUT2 sequence including a 54-bp FUT2-specific region & that might have been generated by interlocus gene conversion (PMID:18067503)
• A gene region immediately upstream the transcription start site of FUT2 which has undergone non-neutral evolution independently from the coding region. (PMID:18997004)
• The G428A nonsense mutation in FUT2 provides strong but not absolute protection against symptomatic GII.4 Norovirus infection. (PMID:19440360)
• The coding region of FUT2 was resequenced in 732 individuals from 39 worldwide human populations. (PMID:19487333)
• Multiple common and sporadic sequence variations including 14 new alleles at FUT1, FUT2, and FUT3 loci were identified. (PMID:19572973)
• The correlation between saliva phenotypes and sequence variation at the FUT2 gene in sixty seven individuals from northern Portugal, was assessed to characterize the functionality of FUT2 variants. (PMID:19757028)
• The FUT2/01 locus exhibits high heterozygosity and individual identification power in Chinese Han population. (PMID:20000042)
• Transfection of the alpha1,2-fucosyltransferase gene into ovarian carcinoma-derived cells brought about elevated expression of integrin alpha5beta1 with Le(Y). (PMID:20172014)
• Data show that si-RNA induced down-regulation of FUT1 and FUT2 reduced expression of fucosylated nucleolin glycoforms and their exposure at the cell surface. (PMID:20506485)
• Nonsecretor genotype was associated with axillary lymph node metastasis in women with invasive ductal breast carcinoma (PMID:20514537)
• A novel 235G>C mutation of FUT1 gene which was associated with para-Bombay phenotype was found in the Chinese pedigree. (PMID:20533259)
• FUT2 non-secretor status is associated with Crohn’s disease. (PMID:20570966)
• The TaqMan real-time PCR method was able to detect the number of copies of FUT2 and distinguish different kinds of known CNVs. (PMID:20880207)
• secretor phenotype of couples with repeated spontaneous abortion, especially of the husband, could facilitate ‘reproductive success’ (PMID:21040203)
• data suggest intrauterine selection against ABH secretor Se- of the embryo carried by a Se+ mother (PMID:21056528)
• Secretor genotype and phenotype may provide strong predictive biomarkers of adverse outcomes in premature infants. (PMID:21256510)
• Non-functional enzyme resulting from a nonsense mutation in the FUT2 gene leads to the non-secretor phenotype (PMID:21625510)
• FUT2 secretor status was associated with colonic-type Crohn’s disease (PMID:21725903)
• Norovirus infection is a unique example where a single nucleotide mutation in a fucosyltransferase gene plays a crucial role in susceptibility to one of the most common viral diseases. (PMID:22025362)
• genetic association studies: The nonsecretor A/A genotype for FUT2 at a nonsense mutation (rs601338A>G) is associated with susceptibility to type 1 diabetes in both case-control (Great Britain) and family studies (Europe/North America/Asia). (PMID:22025780)
• Macrophage-derived factors including LIF might facilitate development of an implantation-receptive endometrium by regulating surface glycan structures in epithelial cells by up-regulating FUT1 and FUT2. (PMID:22053055)
• FUT2 is an important genetic factor influencing microbial diversity in the colonic mucosa. (PMID:22068912)
• Genetic variation of FUT2 in a Vietnamese population. (PMID:22188519)
• This study confirms the influence of FUT2 461 G–>A polymorphism on plasma vitamin B-12 concentration and showed no influence of H. pylori serologic status on this association in ambulatory subjects from Europe and West Africa. (PMID:22237057)
• The results suggested that FUT1 C35T was a polymorphism in the Chinese population and did not affect its mRNA transcription, but could slightly decrease the activity of human alpha-(1,2)-fucosyltransferase in vitro (PMID:22266267)
• down-regulation of ABO/FUT2 gene transcription is associated with lung cancer. (PMID:22471454)
• FUT2 secretor status and genotype defined by rs601338 significantly influence biliary microbial community composition in primary sclerosing cholangitis (PSC)patients. (PMID:22521342)
• Compared to group A/non-secretors, group O/non-secretor individuals were at increased risk of carrying S. aureus in their throat. This findings supports a role of histo-blood group antigens as ligands for S. aureus and determinants of individual colonization patterns. (PMID:22664149)
• Compared to group A/non-secretors, group O/non-secretor individuals were at increased risk of carrying S. aureus in their throat.Histo-blood group antigens appear to act as ligands for S. aureus and may contribute to the observed population variation in pharyngeal S. aureus colonization. (PMID:22664149)
• FUT2 SNPs were not associated with venous thrombosis risk. (PMID:22672431)
• Functionally relevant FUT2 gene variants are associated with ulcerative colitis (UC). (PMID:23002346)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
caenorhabditis_elegans	B0205.4	WBGENE00015019

Paralogs (1): FUT1 (ENSG00000174951)

Protein

Protein identifiers

Galactoside alpha-(1,2)-fucosyltransferase 2 — Q10981 (reviewed: Q10981)

Alternative names: Alpha(1,2)FT 2, Fucosyltransferase 2, GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2, SE2, Secretor blood group alpha-2-fucosyltransferase, Secretor factor, Type 1 galactoside alpha-(1,2)-fucosyltransferase FUT2, Type 2 galactoside alpha-(1,2)-fucosyltransferase FUT2

All UniProt accessions (2): A8K2L2, Q10981

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the terminal galactose on both O- and N-linked glycans chains of cell surface glycoproteins and glycolipids and the resulting epitope regulates several processes such as cell-cell interaction including host-microbe interaction, cell surface expression and cell proliferation. Preferentially fucosylates gangliosides GA1 and GM1 in the antrum, cecum and colon and in the female reproductive organs. Fucosylated host glycoproteins or glycolipids mediate interaction with intestinal microbiota influencing its composition. Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble ABO blood group antigen synthesis pathway.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Tissue specificity. Small intestine, colon and lung.

Pathway. Protein modification; protein glycosylation.

Polymorphism. Three alleles have been identified in the Japanese population: Se1, Se2, and Sej. Common polymorphisms in FUT2 define the vitamin B12 plasma level quantitative trait locus 1 (B12QTL1) [MIM:612542]. Vitamin B12 found in meat and milk products is necessary for the formation of red blood cells, DNA synthesis during cell division, and maintenance of the myelin nerve sheath, among other functions. Deficiency in vitamin B12, clinically associated with pernicious anemia, cardiovascular disease, cancer, and neurodegenerative disorders, is often related to poor intestinal B12 absorption rather than direct dietary deficiency. Genetic variation in FUT2 results in the non-secretor phenotype which gives rise to non-functional FUT2, resulting in a lack of the H type-1 oligosaccharide ligand in secretions, and this prevents Norwalk virus binding contributing to resistance to Norwalk virus infection.

Miscellaneous. There are two genes (FUT1 and FUT2) which encode galactoside 2-L-fucosyltransferase. They are expressed in a tissue-specific manner with expression restricted to cells of mesodermal or endodermal origin respectively.

Similarity. Belongs to the glycosyltransferase 11 family.

RefSeq proteins (2): NP_000502, NP_001091107 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002516	Glyco_trans_11	Family

Pfam: PF01531

Enzyme classification (BRENDA):

• EC 2.4.1.344 — type 2 galactoside alpha-(1,2)-fucosyltransferase (BRENDA: 10 organisms, 39 substrates, 29 inhibitors, 23 Km, 3 kcat entries)
• EC 2.4.1.69 — type 1 galactoside alpha-(1,2)-fucosyltransferase (BRENDA: 30 organisms, 174 substrates, 51 inhibitors, 139 Km, 17 kcat entries)

Substrate kinetics (BRENDA)

65 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GDP-L-FUCOSE	0.0011–1.54	21
GDP-BETA-L-FUCOSE	0.0073–1.997	15
GDP-BETA-L-FUCOSE	0.011–0.73	8
PHENYL-BETA-D-GALACTOSIDE	3–125	7
PHENYL BETA-D-GALACTOPYRANOSIDE	1.9–33	6
LACTOSE	2.1–8.9	6
LACTULOSE	13.26–108	6
GALBETA(1-3)GALNAC	0.28–20	5
N-ACETYL-BETA-LACTOSAMINE	1.1–14.3	5
BETA-LACTOSE	0.0478–0.55	4
GDP-FUCOSE	0.05–0.178	3
LACTO-N-BIOSE	5.6–8.3	3
LACTO-N-BIOSE I	1.4–3.5	3
LACTOSYLCERAMIDE	0.052–0.068	3
BETA-D-GALACTOSYL-(1->4)-N-ACETYL-BETA-D-GLUCOSA	5.2–20	2

Catalyzed reactions (Rhea), 12 shown:

• a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1’)-Cer(d18:1(4E)) + GDP-beta-L-fucose = alpha-L-fucosyl-(1->2)- beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine + GDP + H(+) (RHEA:32175)
• a ganglioside GM1 (d18:1(4E)) + GDP-beta-L-fucose = a ganglioside Fuc-GM1 (d18:1(4E)) + GDP + H(+) (RHEA:42040)
• a globoside GalGb4Cer (d18:1(4E)) + GDP-beta-L-fucose = a globoside Globo-H (d18:1(4E)) + GDP + H(+) (RHEA:42044)
• a ganglioside GM1 + GDP-beta-L-fucose = a ganglioside Fuc-GM1 + GDP + H(+) (RHEA:48292)
• a neolactoside nLc4Cer(d18:1(4E)) + GDP-beta-L-fucose = a neolactoside IV(2)-alpha-Fuc-nLc4Cer(d18:1(4E)) + GDP + H(+) (RHEA:48304)
• a ganglioside GA1 + GDP-beta-L-fucose = a ganglioside Fuc-GA1 + GDP + H(+) (RHEA:48320)
• a ganglioside GD1b + GDP-beta-L-fucose = a ganglioside Fuc-GD1b + GDP + H(+) (RHEA:48324)
• Lc4Cer + GDP-beta-L-fucose = alpha-L-fucosyl-(1->2)-beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1’)-ceramide + GDP + H(+) (RHEA:48792)
• a neolactoside nLc4Cer + GDP-beta-L-fucose = a neolactoside IV(2)-alpha-Fuc-nLc4Cer + GDP + H(+) (RHEA:48800)
• a beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl derivative + GDP-beta-L-fucose = an alpha-L-Fuc-(1->2)-beta-D-Gal-(1->3)-beta-D-GlcNAc derivative + GDP + H(+) (RHEA:50664)
• a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + GDP-beta-L-fucose = an alpha-L-Fuc-(1->2)-beta-D-Gal-(1->4)-beta-D-GlcNAc derivative + GDP + H(+) (RHEA:50668)
• a lactoside III(4)-a-Fuc-Lc4Cer + GDP-beta-L-fucose = a lactoside IV(2),III(4)-a-[Fuc]2-Lc4Cer + GDP + H(+) (RHEA:62616)

UniProt features (12 total): sequence variant 5, glycosylation site 3, topological domain 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q10981-F1	90.65	0.81

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (3): 188, 282, 308

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-9033807	ABO blood group biosynthesis
R-HSA-9037629	Lewis blood group biosynthesis
R-HSA-9840309	Glycosphingolipid biosynthesis

MSigDB gene sets: 128 (showing top): GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GCM_MYCL1, MARTINEZ_RB1_TARGETS_UP, GCM_RING1, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GLOBO_SERIES, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GCM_DPF2, WAGNER_APO2_SENSITIVITY, GOBP_GLYCOSPHINGOLIPID_BIOSYNTHETIC_PROCESS

GO Biological Process (11): carbohydrate metabolic process (GO:0005975), glycosphingolipid biosynthetic process (GO:0006688), glycoprotein biosynthetic process (GO:0009101), oligosaccharide biosynthetic process (GO:0009312), L-fucose catabolic process (GO:0042355), regulation of endothelial cell proliferation (GO:0001936), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), glycolipid metabolic process (GO:0006664), regulation of cell adhesion (GO:0030155), obsolete fucosylation (GO:0036065)

GO Molecular Function (6): galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107), fucosyltransferase activity (GO:0008417), alpha-(1,2)-fucosyltransferase activity (GO:0031127), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (5): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), Golgi cisterna membrane (GO:0032580), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Blood group systems biosynthesis	2
Glycosphingolipid metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
primary metabolic process	2
glycosphingolipid metabolic process	1
glycolipid biosynthetic process	1
sphingolipid biosynthetic process	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
oligosaccharide metabolic process	1
carbohydrate biosynthetic process	1
hexose catabolic process	1
L-fucose metabolic process	1
endothelial cell proliferation	1
regulation of epithelial cell proliferation	1
liposaccharide metabolic process	1
cell adhesion	1
regulation of cellular process	1
alpha-(1,2)-fucosyltransferase activity	1
hexosyltransferase activity	1
fucosyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
Golgi cisterna	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1658 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FUT2	FUT3	P21217	971
FUT2	EXOC6	Q8TAG9	959
FUT2	FUT6	P51993	888
FUT2	FUT4	P22083	865
FUT2	FUT5	Q11128	863
FUT2	SETBP1	Q9Y6X0	777
FUT2	EPHX2	P34913	775
FUT2	A0A0J9YYA3	A0A0J9YYA3	725
FUT2	EXOC1	Q9NV70	700
FUT2	RABIF	P47224	669
FUT2	FUT8	Q9BYC5	660
FUT2	ELP1	O95163	624
FUT2	FUT9	Q9Y231	611
FUT2	EPHA4	P54764	608
FUT2	EDNRB	P24530	605

IntAct

16 interactions, top by confidence:

A	B	Type	Score
FUT2	BDNF	psi-mi:“MI:0915”(physical association)	0.560
CALR	FUT2	psi-mi:“MI:0915”(physical association)	0.560
DLST	FUT2	psi-mi:“MI:0915”(physical association)	0.560
FUT2	NEK7	psi-mi:“MI:0915”(physical association)	0.560
MCAM	FUT2	psi-mi:“MI:0915”(physical association)	0.400
FUT2	ZDHHC17	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (1): FUT2 (Two-hybrid)

ESM2 similar proteins: A4FV98, A6NKP2, A6QLY2, O18735, O43488, O75382, O75648, O77485, O77486, O88676, P04626, P23764, P25325, P34059, P52848, Q02353, Q0VD18, Q10836, Q10981, Q10982, Q28113, Q32KH5, Q32KJ6, Q3U129, Q3UHN9, Q4R766, Q571E4, Q5I0D5, Q5RB73, Q5RJL2, Q6AYT7, Q6P988, Q7RTV5, Q7Z4H8, Q8CIW5, Q8K093, Q8N2K0, Q8WNQ7, Q96AZ1, Q96SL4

Diamond homologs: F6Q1T7, O09160, O77485, O77486, O77487, P19526, P97353, Q10979, Q10980, Q10981, Q10982, Q10983, Q10984, Q28113, Q29043, Q866C5, Q866C7, Q866C9, Q866D2, Q866D6, Q866D9, Q866E1, Q866E4, Q866E6, Q866E7, Q866E8, Q866F0, Q866F1, Q9JL27, Q9TTC7, Q9TTY3, Q9TUD4, Q9TUD6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CDX2	“up-regulates quantity by expression”	FUT2	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

67 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	43
Likely benign	6
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
12947	NG_007511.1:g.6141_16535del	Pathogenic

SpliceAI

348 predictions. Top by Δscore:

Variant	Effect	Δscore
19:48703018:C:CA	acceptor_gain	0.9900
19:48696075:ACCAG:A	donor_loss	0.9800
19:48696076:CCAG:C	donor_loss	0.9800
19:48696077:CAGGT:C	donor_loss	0.9800
19:48696078:AGGTG:A	donor_loss	0.9800
19:48696079:GGTGA:G	donor_loss	0.9800
19:48696080:G:T	donor_loss	0.9800
19:48696081:T:A	donor_loss	0.9800
19:48703019:G:A	acceptor_gain	0.9600
19:48696082:GAGA:G	donor_loss	0.9500
19:48703037:C:G	acceptor_gain	0.9500
19:48696778:G:GT	donor_gain	0.9300
19:48703017:AC:A	acceptor_gain	0.9300
19:48696756:G:GT	donor_gain	0.9200
19:48702954:GCC:G	acceptor_gain	0.9200
19:48696557:G:T	donor_gain	0.9100
19:48703037:C:CA	acceptor_gain	0.9100
19:48702954:GCCAT:G	acceptor_gain	0.9000
19:48696556:G:GT	donor_gain	0.8800
19:48696639:TTTCC:T	donor_gain	0.8800
19:48702953:A:AG	acceptor_gain	0.8800
19:48702954:G:GG	acceptor_gain	0.8800
19:48696085:AGAAG:A	donor_loss	0.8700
19:48696087:AAG:A	donor_loss	0.8700
19:48696088:AG:A	donor_loss	0.8700
19:48696089:G:GA	donor_loss	0.8700
19:48696090:G:GA	donor_loss	0.8700
19:48696091:T:C	donor_loss	0.8700
19:48703036:AC:A	acceptor_gain	0.8700
19:48696092:G:GT	donor_loss	0.8600

AlphaMissense

2248 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:48703195:C:A	A80D	0.995
19:48703422:T:C	F156L	0.991
19:48703424:C:A	F156L	0.991
19:48703424:C:G	F156L	0.991
19:48703683:A:C	S243R	0.989
19:48703685:T:A	S243R	0.989
19:48703685:T:G	S243R	0.989
19:48703275:T:C	F107L	0.986
19:48703277:C:A	F107L	0.986
19:48703277:C:G	F107L	0.986
19:48703549:T:A	V198D	0.986
19:48703827:T:C	F291L	0.986
19:48703829:C:A	F291L	0.986
19:48703829:C:G	F291L	0.986
19:48703836:T:A	W294R	0.986
19:48703836:T:C	W294R	0.986
19:48703194:G:C	A80P	0.985
19:48703212:G:C	A86P	0.985
19:48703178:C:A	N74K	0.984
19:48703178:C:G	N74K	0.984
19:48703191:T:C	Y79H	0.983
19:48703678:T:A	V241D	0.983
19:48703207:C:A	A84D	0.982
19:48703459:T:C	F168S	0.981
19:48703174:G:T	G73V	0.980
19:48703191:T:G	Y79D	0.980
19:48703201:T:C	L82P	0.980
19:48703799:T:G	C281W	0.980
19:48703932:T:C	F326L	0.980
19:48703934:C:A	F326L	0.980

dbSNP variants (sampled 300 via entrez): RS1000068800 (19:48701908 G>A), RS1000100661 (19:48701582 G>A,C), RS1000831606 (19:48695873 G>A), RS1000968689 (19:48696366 C>A,T), RS1001431140 (19:48706377 C>A), RS1001449171 (19:48694947 T>G), RS1001865349 (19:48704197 G>A), RS1002288858 (19:48695633 C>A), RS1002627662 (19:48694502 C>A,G,T), RS1002666388 (19:48700067 T>C,G), RS1002680025 (19:48694350 G>A), RS1002962135 (19:48699886 G>A), RS1003096863 (19:48705073 C>T), RS1003810714 (19:48698022 C>A,G,T), RS1003891337 (19:48701857 G>C)

Disease associations

OMIM: gene MIM:182100 | disease phenotypes: MIM:613852

GenCC curated gene-disease

Mondo (1): fucosyltransferase 6 deficiency (MONDO:0013462)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance

GWAS associations

82 associations (top):

Study	Trait	p-value
GCST000228_1	Vitamin B12 levels	5.000000e-17
GCST000358_3	Folate pathway vitamin levels	3.000000e-20
GCST000483_2	Folate pathway vitamin levels	2.000000e-15
GCST000705_3	Crohn’s disease	2.000000e-08
GCST000760_12	Cholesterol, total	2.000000e-10
GCST000847_1	Retinal vascular caliber	2.000000e-25
GCST000879_14	Crohn’s disease	7.000000e-12
GCST001217_6	Metabolic traits	4.000000e-20
GCST001241_6	Bipolar disorder	3.000000e-06
GCST001276_6	Liver enzyme levels (alkaline phosphatase)	1.000000e-15
GCST001277_6	Liver enzyme levels (gamma-glutamyl transferase)	8.000000e-10
GCST001424_1	Vitamin B12 levels	4.000000e-36
GCST001729_25	Crohn’s disease	1.000000e-15
GCST001762_424	Obesity-related traits	2.000000e-06
GCST001808_2	Tumor biomarkers	8.000000e-176
GCST001808_8	Tumor biomarkers	6.000000e-209
GCST001844_2	Dietary macronutrient intake	8.000000e-09
GCST002087_13	Homocysteine levels	7.000000e-09
GCST002364_36	Urinary metabolites (H-NMR features)	4.000000e-32
GCST002364_37	Urinary metabolites (H-NMR features)	3.000000e-36
GCST002364_38	Urinary metabolites (H-NMR features)	1.000000e-12
GCST002364_39	Urinary metabolites (H-NMR features)	7.000000e-19
GCST002485_5	Elevated serum carcinoembryonic antigen levels	1.000000e-56
GCST002530_2	Serum lipase activity	6.000000e-09
GCST002559_7	Vitamin B levels in ischemic stroke	2.000000e-07
GCST002738_6	Psoriasis	4.000000e-08
GCST003097_32	Pediatric autoimmune diseases	5.000000e-08
GCST003625_1	diarrhoeal disease at age 1 with doctor diagnosis	7.000000e-11
GCST003991_2	Childhood ear infection	4.000000e-30
GCST004030_28	Primary sclerosing cholangitis	3.000000e-06

EFO canonical traits (32, from GWAS)

EFO ID	Trait name
EFO:0004620	vitamin B12 measurement
EFO:0004574	total cholesterol measurement
EFO:0004731	eye measurement
EFO:0004725	metabolite measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0005127	cancer biomarker measurement
EFO:0003939	energy intake
EFO:0004578	homocysteine measurement
EFO:0005116	urinary metabolite measurement
EFO:0005760	serum carcinoembryonic antigen measurement
EFO:0007904	susceptibility to childhood ear infection measurement
EFO:0008004	resting metabolic rate measurement
EFO:0008404	susceptibility to mumps measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0009458	alcohol use disorder measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0009932	HMG CoA reductase inhibitor use measurement
EFO:0004344	birth weight
EFO:0010584	cancer antigen 19.9 measurement
EFO:0010621	obsolete_stromelysin‐2 measurement
EFO:0008137	galectin-3 measurement
EFO:0004509	hemoglobin measurement
EFO:0008111	diet measurement
EFO:0004615	apolipoprotein B measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0004459	ferritin measurement
EFO:0600008	mitochondrial heteroplasmy measurement
EFO:0007614	asthma exacerbation measurement
EFO:0006925	lipoprotein A measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105777 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs492602	Toxicity	3	ethanol	Alcohol abuse

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs492602	FUT2	3	1.50	1	ethanol

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases mutagenesis	2
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
ganoderic acid A	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Latex	increases expression	1
Nickel	increases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Vitamin B 12	affects abundance	1
Cadmium Chloride	increases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4054317	Binding	Inhibition of human fucosyltransferase2 at 150 uM using alpha-lactose as substrate in presence of GDP-Fuc measured after 20 mins by malachite green dye-based assay	Covalent inhibitors of LgtC: A blueprint for the discovery of non-substrate-like inhibitors for bacterial glycosyltransferases. — Bioorg Med Chem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.