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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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POFUT2
protein O-fucosyltransferase 2
Chromosome 21 · 21q22.3
NCBI Gene: 23275Ensembl: ENSG00000186866.17HGNC: HGNC:14683UniProt: Q9Y2G5
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
peptide-O-fucosyltransferase activityGolgi apparatusprotein O-linked glycosylation via fucoseregulation of secretionneurodegenerative diseasecataractalcohol drinkingmetabolic syndrome
✦AI Summary

POFUT2 is a GDP-fucose protein O-fucosyltransferase that catalyzes O-linked fucosylation of thrombospondin type 1 repeats (TSRs) in the endoplasmic reticulum 1. The enzyme specifically recognizes and modifies a conserved serine or threonine residue within the C1-X-X-S/T-C2 consensus sequence of TSRs, where substrate specificity is determined by the three-dimensional fold rather than primary sequence 1. POFUT2 employs a classical SN2 reaction mechanism facilitated by water-mediated interactions and a dynamic recognition network 2. The enzyme targets multiple protein families including ADAMTS, thrombospondin, and spondin proteins, and is essential for proper secretion of ADAMTS family members such as ADAMTS13 1. O-fucosylation by POFUT2 stabilizes TSR domains in their correct three-dimensional fold, supporting quality control mechanisms 3. Disease relevance is evident in preterm prelabor rupture of membranes (pPROM), where IL-1β-induced NF-κB activation upregulates both ADAMTS9 and POFUT2, promoting ADAMTS9 secretion and subsequent extracellular matrix degradation 4. Additionally, POFUT2 is one of three essential fucosyltransferases for proper mammalian development 5. Beyond TSRs, POFUT2 represents part of an expanding O-fucosylation repertoire that includes modification of elastin microfibril interface domains 6.

Sources cited
1
POFUT2 catalyzes O-fucosylation of TSRs; substrate specificity determined by 3D fold; >40 human proteins contain TSR consensus sequence
PMID: 22588082
2
POFUT2 follows SN2 reaction mechanism; water molecules essential in catalysis and ligand recognition
PMID: 36260536
3
POFUT2 modifies TSRs to stabilize their 3D fold; quality control function for secretion
PMID: 36721988
4
IL-1β upregulates POFUT2 expression via NF-κB; POFUT2 facilitates ADAMTS9 secretion and ECM degradation in pPROM
PMID: 40057799
5
POFUT2 (FUT13) is one of three essential fucosyltransferases for proper mammalian development
PMID: 28430973
6
POFUT2 part of expanding O-fucosylation repertoire including EMI domain modification alongside other POFUTs
PMID: 39775168
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
cataractOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.21Weak
metabolic syndromeOpen Targets
0.09Suggestive
major depressive disorderOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
osteoarthritis, hipOpen Targets
0.04Suggestive
osteoarthritis, kneeOpen Targets
0.04Suggestive
osteoarthritisOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
gangreneOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
myxosarcomaOpen Targets
0.01Suggestive
malariaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
THBS1Protein interaction83%ADARB1Protein interaction81%SPON1Protein interaction78%PADI2Protein interaction78%YBEYProtein interaction77%ADAMTSL1Protein interaction72%
Tissue Expression6 tissues
Ovary
100%
Liver
77%
Lung
70%
Bone Marrow
57%
Heart
36%
Brain
13%
Gene Interaction Network
Click a node to explore
POFUT2THBS1ADARB1SPON1PADI2YBEYADAMTSL1
PROTEIN STRUCTURE
Preparing viewer…
PDB4AP5 · 3.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.36–0.72]
RankingsWhere POFUT2 stands among ~20K protein-coding genes
  • #12,006of 20,598
    Most Researched30
  • #5,519of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedPOFUT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation.
PMID: 22588082
EMBO J · 2012
1.00
2
IL-1β stimulates ADAMTS9 expression and contributes to preterm prelabor rupture of membranes.
PMID: 40057799
Cell Commun Signal · 2025
0.90
3
O-fucosylation of thrombospondin type I repeats is dispensable for trafficking thrombospondin 1 to platelet secretory granules.
PMID: 36721988
Glycobiology · 2023
0.80
4
Biological functions of fucose in mammals.
PMID: 28430973
Glycobiology · 2017
0.70
5
A perspective on structural and mechanistic aspects of protein O-fucosylation.
PMID: 30084393
Acta Crystallogr F Struct Biol Commun · 2018
0.60