ST3GAL5

Chr 2

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

Also known as: SATI, SIAT9, SIATGM3S, SPDRS, ST3Gal V, ST3GalV

NCBI Gene: 8869ENSG00000115525UniProt: Q9UNP4

Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSalt and pepper developmental regression syndrome

Clinical highlights

Gene-disease validity (ClinGen)
GM3 synthase deficiency · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.76
LOEUF
LOF
Mechanism· G2P
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GeneReview available — ST3GAL5
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

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?
0.76LOEUF
pLI 0.001
Z-score 2.35
OE 0.42 (0.24–0.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.05Z-score
OE missense 0.80 (0.70–0.91)
168 obs / 210.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.24–0.76)
0≤0.351.4
Missense OE?0.80 (0.70–0.91)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 8 / 19.1Missense obs/exp: 168 / 210.9Syn Z: 1.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ST3GAL5 · 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