ST6GALNAC6

Chr 9

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6

Also known as: SIAT7-F, SIAT7F, ST6GALNACVI

NCBI Gene: 30815ENSG00000160408UniProt: Q969X2OMIM: 610135

ST6GALNAC6 encodes a sialyltransferase that transfers sialyl groups to glycoproteins and glycolipids with alpha-2,6-linkage specificity, particularly catalyzing ganglioside GD1alpha biosynthesis from GM1b and other complex glycolipid modifications. The gene shows low constraint to loss-of-function variation (pLI 0.002, LOEUF 0.815), and no definitive human disease associations have been established from the provided data.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.81
Clinical Summary— ST6GALNAC6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
41 unique Pathogenic / Likely Pathogenic· 44 VUS of 96 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.81LOEUF
pLI 0.002
Z-score 2.11
OE 0.43 (0.25–0.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.57Z-score
OE missense 0.71 (0.63–0.81)
166 obs / 233.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.43 (0.25–0.81)
0≤0.351.4
Missense OE0.71 (0.63–0.81)
0≤0.61.4
Synonymous OE1.02
0≤1.21.6
LoF obs/exp: 7 / 16.1Missense obs/exp: 166 / 233.4Syn Z: -0.14

ClinVar Variant Classifications

96 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic40
Likely Pathogenic1
VUS44
Likely Benign1
40
Pathogenic
1
Likely Pathogenic
44
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
40
0
40
Likely Pathogenic
0
0
1
0
1
VUS
0
41
3
0
44
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total04244086

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

View in ClinVar →

Protein Context — Lollipop Plot

ST6GALNAC6 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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
CircRNA-ST6GALNAC6 increases the sensitivity of bladder cancer cells to erastin-induced ferroptosis by regulating the HSPB1/P38 axis.
Wang L et al.·Lab Invest
2022
Sialylation shapes mucus architecture inhibiting bacterial invasion in the colon.
Taniguchi M et al.·Mucosal Immunol
2023
Enzymatic Synthesis of Disialyllacto-N-Tetraose (DSLNT) and Related Human Milk Oligosaccharides Reveals Broad Siglec Recognition to the Atypical Neu5Acalpha2-6GlcNAc Motif.
Bao S et al.·Angew Chem Int Ed Engl
2024
Deficient extravillous trophoblast invasion caused by impaired sialylation-Siglec-7 interaction contributes to recurrent pregnancy loss
Zhang L et al.·Cell Death Dis
2026
Evaluation of autoantibody signatures in pituitary adenoma patients using human proteome arrays.
Banerjee A et al.·Proteomics Clin Appl
2022Cohort
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 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