FUT3

fucosyltransferase 3 (Lewis blood group), the group of Fucosyltransferases|CD molecules|Blood group antigens

Basic information

Region (hg38): 19:5842887-5851471

Previous symbols: [ "LE" ]

Links

ENSG00000171124 ∙ NCBI:2525 ∙ OMIM:111100 ∙ HGNC:4014 ∙ Uniprot:P21217 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Blood group, Lewis system	AD	Hematologic	Variants may be associated with a blood group may be important in specific situations (eg, related to transfusion)	Hematologic	2922027; 7961897; 8943285; 9703429; 11668626; 15383031

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FUT3 gene.

• Inborn genetic diseases (24 variants)
• not provided (4 variants)
• - (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUT3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			23	2		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	4	1

Variants in FUT3

This is a list of pathogenic ClinVar variants found in the FUT3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-5843785-G-A		not specified	Uncertain significance (Nov 03, 2023)
19-5843811-T-C			Likely benign (Jul 06, 2018)
19-5843865-C-T		FUT3-related disorder	Benign (Mar 30, 2023)
19-5843896-C-T		not specified	Uncertain significance (Jul 19, 2023)
19-5843929-C-T		not specified	Likely benign (Jul 25, 2023)
19-5843930-G-A		not specified	Uncertain significance (Mar 02, 2023)
19-5843930-G-C		not specified	Uncertain significance (Feb 28, 2023)
19-5843947-C-T		not specified	Uncertain significance (Dec 09, 2023)
19-5844014-G-A		not specified	Uncertain significance (Sep 14, 2022)
19-5844068-C-T		not specified	Uncertain significance (Jan 09, 2024)
19-5844082-G-A		not specified	Uncertain significance (Dec 08, 2023)
19-5844099-G-A		FUT3-related disorder	Likely benign (Mar 30, 2021)
19-5844108-G-A			Benign (Jun 12, 2018)
19-5844130-G-A		not specified	Uncertain significance (Dec 22, 2023)
19-5844161-T-C		not specified	Uncertain significance (Oct 03, 2022)
19-5844170-G-A		not specified	Uncertain significance (Jul 27, 2022)
19-5844218-G-A		not specified	Uncertain significance (Jul 15, 2021)
19-5844224-T-A		not specified	Uncertain significance (Dec 12, 2023)
19-5844228-T-C		FUT3-related disorder	Likely benign (Feb 01, 2023)
19-5844270-G-A		FUT3-related disorder	Likely benign (Oct 26, 2022)
19-5844322-T-C		not specified	Uncertain significance (Jul 09, 2021)
19-5844332-C-T		FUT3-related disorder	Benign (Oct 18, 2019)
19-5844409-T-C		not specified	Uncertain significance (Oct 18, 2021)
19-5844419-G-T		not specified	Uncertain significance (Jun 09, 2022)
19-5844437-A-G		not specified	Uncertain significance (Apr 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FUT3	protein_coding	protein_coding	ENST00000303225	1	8587

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000630	0.163	125738	0	10	125748	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.259	238	227	1.05	0.0000163	2317
Missense in Polyphen		63	72.73	0.86622		856
Synonymous	-1.99	130	104	1.25	0.00000804	761
Loss of Function	-1.39	5	2.59	1.93	1.13e-7	25

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000527	0.0000527
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of Vim-2, Lewis A, Lewis B, sialyl Lewis X and Lewis X/SSEA-1 antigens. May be involved in blood group Lewis determination; Lewis-positive (Le(+)) individuals have an active enzyme while Lewis-negative (Le(-)) individuals have an inactive enzyme. Also acts on the corresponding 1,4-galactosyl derivative, forming 1,3-L-fucosyl links.
• Pathway: Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human);Glycosphingolipid biosynthesis - lactoseries;Post-translational protein modification;Reactions specific to the complex N-glycan synthesis pathway;N-glycan antennae elongation in the medial/trans-Golgi;Metabolism of proteins;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation (Consensus)

Recessive Scores

• pRec: 0.188

Intolerance Scores

• loftool: 0.628
• rvis_EVS: 2.6
• rvis_percentile_EVS: 98.77

Haploinsufficiency Scores

• pHI: 0.134
• hipred: N
• hipred_score: 0.290

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.234

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: protein glycosylation;ceramide metabolic process;oligosaccharide biosynthetic process;cell-cell recognition;fucosylation;macromolecule glycosylation
• Cellular component: Golgi membrane;membrane;integral component of membrane;Golgi cisterna membrane;extracellular exosome
• Molecular function: fucosyltransferase activity;3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity;alpha-(1->3)-fucosyltransferase activity