ST6GALNAC4
Chr 9ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
Also known as: IV, SIAT3-C, SIAT3C, SIAT7-D, SIAT7D, ST6GALNACIV, ST6GalNAc
The encoded sialyltransferase catalyzes the transfer of sialic acid from CMP-sialic acid to GalNAc residues on glycoproteins and glycolipids, forming alpha-2,6-linkages and producing branched disialyl structures essential for proper glycosylation. The extremely low pLI score and elevated LOEUF score indicate this gene is highly tolerant to loss-of-function mutations, suggesting haploinsufficiency is unlikely to cause disease. No specific diseases associated with ST6GALNAC4 mutations are established based on the provided information.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
109 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 39 | 0 | 39 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 48 | 2 | 0 | 50 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 2 | 2 |
| Total | 0 | 50 | 42 | 2 | 94 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ST6GALNAC4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools