HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
POFUT4
protein O-fucosyltransferase 4
Chromosome 10 Β· 10q22.2
NCBI Gene: 170384Ensembl: ENSG00000196968.11HGNC: HGNC:19233UniProt: Q495W5
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of protein secretionfucosyltransferase activityprotein bindingendoplasmic reticulumatrial fibrillationsystolic heart failurecongestive heart failureasthma
✦AI Summary

Based on limited published evidence, POFUT4 is a protein O-fucosyltransferase that catalyzes O-fucosylation of serine or threonine residues in elastin microfibril interface (EMI) domains of target proteins including MMRN1, MMRN2, and EMID1 1. The enzyme attaches fucose through O-glycosidic linkages and localizes to the endoplasmic reticulum, where O-fucosylation of EMI domain-containing proteins facilitates protein folding and secretion 1. POFUT4 also demonstrates minor alpha-(1,3)-fucosyltransferase activity toward biantennary N-glycan acceptors in synthetic substrate libraries, though in vivo relevance remains unclear 2.

Sources cited
1
POFUT4 (formerly FUT11) catalyzes O-fucosylation of EMI domains in MMRN1, MMRN2, and EMID1; functions in ER quality control for EMI protein secretion
PMID: 39775168
2
POFUT4 shows minor alpha-(1,3)-fucosyltransferase activity toward biantennary N-glycan acceptors in synthetic substrate libraries with uncertain in vivo relevance
PMID: 19088067
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
atrial fibrillationOpen Targets
0.14Weak
systolic heart failureOpen Targets
0.12Weak
congestive heart failureOpen Targets
0.10Weak
asthmaOpen Targets
0.10Suggestive
gastric cancerOpen Targets
0.10Suggestive
pachyonychia congenitaOpen Targets
0.09Suggestive
substance-related disorderOpen Targets
0.09Suggestive
psoriasisOpen Targets
0.08Suggestive
psoriasis vulgarisOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
heart failureOpen Targets
0.06Suggestive
smoking cessationOpen Targets
0.05Suggestive
cardiac arrhythmiaOpen Targets
0.04Suggestive
hypertrophic cardiomyopathyOpen Targets
0.04Suggestive
atrial flutterOpen Targets
0.04Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.04Suggestive
abnormal chest soundsOpen Targets
0.04Suggestive
heart diseaseOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
hypothyroidismOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
POFUT3Shared pathway62%B3GALNT2Shared pathway50%POMGNT1Shared pathway40%ST8SIA6Shared pathway33%A4GNTShared pathway33%MGAT4BShared pathway33%
Tissue Expression6 tissues
Heart
100%
Lung
79%
Brain
75%
Bone Marrow
62%
Ovary
48%
Liver
38%
Gene Interaction Network
Click a node to explore
POFUT4POFUT3B3GALNT2POMGNT1ST8SIA6A4GNTMGAT4B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q495W5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.41LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.08 [0.84–1.41]
RankingsWhere POFUT4 stands among ~20K protein-coding genes
  • #15,353of 20,598
    Most Researched16
  • #14,592of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedPOFUT4
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
FUT10 and FUT11 are protein O-fucosyltransferases that modify protein EMI domains.
PMID: 39775168
Nat Chem Biol Β· 2025
1.00
2
Protein
PMID: 40286076
Molecules Β· 2025
0.50