GALNT11

Chr 7

polypeptide N-acetylgalactosaminyltransferase 11

Also known as: GALNAC-T11, GALNACT11

NCBI Gene: 63917ENSG00000178234UniProt: Q8NCW6OMIM: 615130

Enables Notch binding activity and polypeptide N-acetylgalactosaminyltransferase activity. Predicted to be involved in several processes, including Notch receptor processing; Notch signaling involved in heart development; and regulation of Notch signaling pathway. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.65
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.000
Z-score 3.16
OE 0.41 (0.27–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.90Z-score
OE missense 0.87 (0.79–0.95)
322 obs / 370.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.41 (0.27–0.65)
0≤0.351.4
Missense OE?0.87 (0.79–0.95)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 14 / 33.9Missense obs/exp: 322 / 370.6Syn Z: 0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GALNT11 · 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.

Search ClinicalTrials.gov →

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