POFUT2

Chr 21

protein O-fucosyltransferase 2

Also known as: C21orf80, FUT13

NCBI Gene: 23275ENSG00000186866UniProt: Q9Y2G5

This protein is a GDP-fucose protein O-fucosyltransferase that catalyzes O-linked fucosylation of thrombospondin type-1 repeats in proteins including ADAMTS family members, which is required for their proper secretion. POFUT2 is highly constrained against loss-of-function variants (pLI near 0, LOEUF 0.735), but no specific human disease has been definitively associated with mutations in this gene. The protein plays essential roles in restricting epithelial-mesenchymal transition and maintaining proper mesoderm patterning during development.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
6
Pubs (1 yr)
97
P/LP submissions
0%
P/LP missense
0.73
LOEUF
—
Mechanism
Clinical Summary— POFUT2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
91 unique Pathogenic / Likely Pathogenic· 71 VUS of 189 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.73LOEUF
pLI 0.000
Z-score 2.52
OE 0.43 (0.27–0.73)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.16Z-score
OE missense 0.80 (0.71–0.89)
204 obs / 256.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.43 (0.27–0.73)
0≤0.351.4
Missense OE0.80 (0.71–0.89)
0≤0.61.4
Synonymous OE1.20
0≤1.21.6
LoF obs/exp: 10 / 23.1Missense obs/exp: 204 / 256.4Syn Z: -1.65

ClinVar Variant Classifications

189 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic86
Likely Pathogenic5
VUS71
Likely Benign9
Benign3
Conflicting1
86
Pathogenic
5
Likely Pathogenic
71
VUS
9
Likely Benign
3
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
86
0
86
Likely Pathogenic
0
0
5
0
5
VUS
0
51
20
0
71
Likely Benign
0
4
3
2
9
Benign
0
2
0
1
3
Conflicting
—1
Total0571143175

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

POFUT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients