GALNT6

Chr 12

polypeptide N-acetylgalactosaminyltransferase 6

ENSG00000139629UniProt: Q8NCL4

Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (PubMed:10464263, PubMed:31932717). May participate in synthesis of oncofetal fibronectin (PubMed:10464263). Has activity toward MUC1A, MUC2, EA2 and fibronectin peptides (PubMed:10464263). Glycosylates FGF23 (PubMed:31932717)

ResearchGenerating clinical summary…
0
Active trials
22
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.90
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.90LOEUF
pLI 0.000
Z-score 2.00
OE 0.61 (0.43–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.35Z-score
OE missense 0.95 (0.87–1.04)
357 obs / 376.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.43–0.90)
0≤0.351.4
Missense OE?0.95 (0.87–1.04)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 19 / 31.0Missense obs/exp: 357 / 376.3Syn Z: -0.13

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

GALNT6 · 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