FUCA2

Chr 6

alpha-L-fucosidase 2

Also known as: dJ20N2.5

NCBI Gene: 2519ENSG00000001036UniProt: Q9BTY2

This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]

87
ClinVar variants
13
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— FUCA2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 67 VUS of 87 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.90LOEUF
pLI 0.000
Z-score 1.93
OE 0.58 (0.38–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.82Z-score
OE missense 0.85 (0.76–0.96)
214 obs / 250.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.58 (0.38–0.90)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.85 (0.76–0.96)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.08
0≤1.21.6
LoF obs/exp: 14 / 24.3Missense obs/exp: 214 / 250.7Syn Z: -0.60

ClinVar Variant Classifications

87 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
VUS67
Likely Benign4
Benign3
13
Pathogenic
67
VUS
4
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
13
0
13
Likely Pathogenic
0
0
0
0
0
VUS
0
62
5
0
67
Likely Benign
0
3
0
1
4
Benign
0
0
2
1
3
Total06520287

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

View in ClinVar →

Protein Context — Lollipop Plot

FUCA2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Multiomics Identifies Potential Biomarkers in Ankylosing Spondylitis Bone Formation.
Yang L et al.·Hum Mutat
2025
FUCA2 Is a Prognostic Biomarker and Correlated With an Immunosuppressive Microenvironment in Pan-Cancer.
Zhong A et al.·Front Immunol
2021
Role for alpha-L-fucosidase in the control of Helicobacter pylori-infected gastric cancer cells.
Liu TW et al.·Proc Natl Acad Sci U S A
2009
Genetic insights into drug targets for sporadic Creutzfeldt-Jakob disease: Integrative multi-omics analysis.
Jiang D et al.·Neurobiol Dis
2024
A Macrophage-Derived 7-Gene Signature Predicts Prognosis and Therapeutic Response in Hepatocellular Carcinoma.
Li X et al.·IUBMB Life
2025
Monocyte-related gene biomarkers for latent and active tuberculosis.
Li Y et al.·Bioengineered
2021
Quantitative urinary proteome analysis reveals potential biomarkers for disease activity of Behcet's disease uveitis.
Qin W et al.·BMC Ophthalmol
2024
FUCA1 is induced by wild-type p53 and expressed at different levels in thyroid cancers depending on p53 status.
Tsuchida N et al.·Int J Oncol
2017
[Transcriptomic Profile of the Trastuzumab-Resistant Breast Cancer Cell Line BT-474].
Shifon SA et al.·Mol Biol (Mosk)
2025
Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and alpha-L-fucosidase 2.
Narahara K et al.·Am J Med Genet
1991Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools