FUT5

protein-coding

fucosyltransferase 5, the group of Fucosyltransferases

Gene summary

Enables 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity and 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity. Involved in ceramide metabolic process; glycoprotein biosynthetic process; and oligosaccharide metabolic process. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_002034.2

Inheritance

—

ClinVar variants

U:97B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr19:5,865,826-5,870,540

External References & Databases

Ensembl (ENSG00000130383)

Transcript & Mutation Effects

hg38 • Region Span ~4.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FUT5 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 108

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002034.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			97 clinvar	12 clinvar		109
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	97	13	0	110

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002034.2	RefSeq	NP_002025.2	1	MANE Select
ENST00000588525.1	Ensembl	ENSP00000466880.1	1	MANE Select
ENST00000252675.6	Ensembl	ENSP00000252675.5	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human)
Glycosphingolipid biosynthesis - lactoseries

Biological Process

carbohydrate metabolic process
protein glycosylation
ceramide metabolic process
fucosylation
L-fucose catabolic process

Molecular Function

fucosyltransferase activity
3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity
alpha-(1->3)-fucosyltransferase activity

Cellular Component

Golgi apparatus
integral component of membrane
Golgi cisterna membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000252675
Coding exons: 1
Length: 37962

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.602	274	247	1.11	0.0000175	2414
Missense (PolyPhen)		70	77.997	0.89747		858
Synonymous	-0.719	123	113	1.09	0.00000866	774
Loss of Function

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May catalyze alpha-1,3 glycosidic linkages involved in the expression of VIM-2, Lewis X/SSEA-1 and sialyl Lewis X antigens.;

Recessive Scores

pRec: 0.120

Intolerance Scores

RVIS EVS: 0.11
RVIS percentile EVS: 62.1

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.324

Gene Damage Prediction

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