FUT4

protein-coding

fucosyltransferase 4, the group of Fucosyltransferases|CD molecules

Gene summary

The product of this gene transfers fucose to N-acetyllactosamine polysaccharides to generate fucosylated carbohydrate structures. It catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). [provided by RefSeq, Jan 2009]

Previous symbols:

CD15
FCT3A
ELFT

MANE transcript

NM_002033.4

Inheritance

—

ClinVar variants

U:81B:15

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.67

Max pathogenic AF

—

Genomic locus

chr11:94,543,921-94,549,895

External References & Databases

Ensembl (ENSG00000196371)

Transcript & Mutation Effects

hg38 • Region Span ~6.0 kb

Loading mutation effect viewer...

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 FUT4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 89

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002033.4. 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				4 clinvar	1 clinvar	5
missense			81 clinvar	9 clinvar	1 clinvar	91
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	81	13	2	96

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002033.4	RefSeq	NP_002024.1	1	MANE Select
ENST00000358752.4	Ensembl	ENSP00000351602.2	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Mannose type O-glycan biosynthesis - Homo sapiens (human)
Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human)

Biological Process

carbohydrate metabolic process
protein glycosylation
fucosylation
L-fucose catabolic process

Molecular Function

fucosyltransferase activity
alpha-(1->3)-fucosyltransferase activity

Cellular Component

Golgi apparatus
cell surface
membrane
integral component of membrane
Golgi cisterna membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000358752
Coding exons: 1
Length: 6047
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.729	259	294	0.880	0.0000174	3260
Missense (PolyPhen)		86	119.57	0.71922		1223
Synonymous	-0.125	140	138	1.01	0.00000850	1171
Loss of Function	1.18	10	14.9	0.670	6.91e-7	151

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 Lewis X/SSEA-1 and VIM-2 antigens.;

Recessive Scores

pRec: 0.358

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): H
Indispensability pred.: E
Indispensability score: 0.639

Gene Damage Prediction

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