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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Chromosome 1 Β· 1p34.1
NCBI Gene: 6487Ensembl: ENSG00000126091.21HGNC: HGNC:10866UniProt: A0A2R8Y6H4
43PubMed Papers
22Diseases
0Drugs
22Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingglycoprotein biosynthetic processsialyltransferase activityglycosphingolipid biosynthetic processinfantile spasmsautosomal recessive non-syndromic intellectual disabilitydevelopmental and epileptic encephalopathygenetic developmental and epileptic encephalopathy
✦AI Summary

ST3GAL3 encodes beta-galactoside alpha-2,3-sialyltransferase III, a Golgi enzyme that catalyzes the addition of sialic acid residues to terminal galactose residues on glycoproteins and glycolipids 1. The enzyme creates NeuAc-alpha-2,3-Gal linkages with highest activity toward Gal-beta-1,3-GlcNAc substrates. ST3GAL3 plays critical roles in both normal development and disease pathogenesis. Biallelic loss-of-function variants cause developmental and epileptic encephalopathy 15 (DEE15), characterized by severe intellectual disability, motor impairment, and epilepsy with onset typically in infancy 23. In cancer contexts, ST3GAL3 promotes tumor progression through multiple mechanisms. Elevated ST3GAL3 expression in ovarian cancer creates an immunosuppressive microenvironment by promoting M2-like macrophage polarization and reducing CD8+ T cell infiltration 4. The enzyme also contributes to chemotherapy resistance, as knockdown sensitizes ovarian cancer cells to cisplatin-induced apoptosis through increased caspase activation 5. Recent evidence suggests ST3GAL3 may be involved in ADHD pathogenesis and gastric cancer stem cell maintenance through FOXO-mediated regulation 67. Therapeutically, targeting ST3GAL3-mediated sialylation shows promise for enhancing cancer immunotherapy responses.

Sources cited
1
ST3GAL3 encodes a Golgi enzyme and biallelic variants cause developmental and epileptic encephalopathy
PMID: 37938134
2
DEE15 characterized by intellectual disability, motor impairment, and epilepsy with infantile onset
PMID: 37067065
3
ST3GAL3 deficiency causes epilepsy, motor delay, severe intellectual disability, and behavioral disorders
PMID: 34022416
4
ST3GAL3 promotes immunosuppressive tumor microenvironment in ovarian cancer by affecting macrophage polarization and T cell infiltration
PMID: 37172314
5
ST3GAL3 knockdown sensitizes ovarian cancer cells to cisplatin through increased caspase activation
PMID: 27871859
6
ST3GAL3 identified as putatively causal gene for ADHD in cortical tissues
PMID: 40000109
7
FOXO-ST3GAL3 axis contributes to gastric cancer stem cell maintenance through elevated sialylation
PMID: 39164456
Disease Associationsβ“˜22
infantile spasmsOpen Targets
0.71Strong
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.67Moderate
developmental and epileptic encephalopathyOpen Targets
0.53Moderate
genetic developmental and epileptic encephalopathyOpen Targets
0.52Moderate
attention deficit hyperactivity disorderOpen Targets
0.47Moderate
COVID-19Open Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
intelligenceOpen Targets
0.43Moderate
genetic disorderOpen Targets
0.41Moderate
developmental disorder of mental healthOpen Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
schizophreniaOpen Targets
0.37Weak
autism spectrum disorderOpen Targets
0.30Weak
obesityOpen Targets
0.29Weak
Alzheimer diseaseOpen Targets
0.29Weak
handednessOpen Targets
0.28Weak
HypercholesterolemiaOpen Targets
0.27Weak
smoking initiationOpen Targets
0.26Weak
kidney failureOpen Targets
0.25Weak
ovarian neoplasmOpen Targets
0.24Weak
Developmental and epileptic encephalopathy 15UniProt
Intellectual developmental disorder, autosomal recessive 12UniProt
Pathogenic Variants22
NM_006279.5(ST3GAL3):c.166+1G>APathogenic
Developmental and epileptic encephalopathy, 15|not provided|Early-infantile DEE
β˜…β˜…β˜†β˜†2025
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter)Pathogenic
Developmental and epileptic encephalopathy, 15;Intellectual disability, autosomal recessive 12|Inborn genetic diseases|not provided|Early-infantile DEE
β˜…β˜…β˜†β˜†2024β†’ Residue 261
NM_006279.5(ST3GAL3):c.167-2A>TLikely pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2025
NM_006279.5(ST3GAL3):c.646dup (p.Arg216fs)Pathogenic
ST3GAL3-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 216
NM_006279.5(ST3GAL3):c.83G>A (p.Trp28Ter)Likely pathogenic
Developmental and epileptic encephalopathy, 15
β˜…β˜†β˜†β˜†2024β†’ Residue 28
NM_006279.5(ST3GAL3):c.529C>T (p.Arg177Ter)Pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2024β†’ Residue 177
NM_006279.5(ST3GAL3):c.558-19_562delLikely pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2023
NM_006279.5(ST3GAL3):c.891+1delPathogenic
Intellectual disability, autosomal recessive 12|Developmental and epileptic encephalopathy, 15
β˜…β˜†β˜†β˜†2022
NM_006279.5(ST3GAL3):c.808C>T (p.Arg270Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 270
NM_006279.5(ST3GAL3):c.891+2T>GLikely pathogenic
Developmental and epileptic encephalopathy
β˜…β˜†β˜†β˜†2022
NM_006279.5(ST3GAL3):c.167-2A>GLikely pathogenic
Developmental and epileptic encephalopathy
β˜…β˜†β˜†β˜†2022
NM_006279.5(ST3GAL3):c.210-1G>CLikely pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2022
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)Likely pathogenic
Prolonged neonatal jaundice;Severe intellectual disability;Difficulty walking;Frequent falls;Aggressive behavior|Intellectual disability, autosomal recessive 12
β˜…β˜†β˜†β˜†2022β†’ Residue 349
NM_006279.5(ST3GAL3):c.118+1G>ALikely pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2021
NM_006279.5(ST3GAL3):c.891+1G>TLikely pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2021
NM_006279.5(ST3GAL3):c.302+1delPathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2021
NM_006279.5(ST3GAL3):c.729_730insCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATACATCGTC (p.Tyr244delinsLeuTer)Pathogenic
Early-infantile DEE
β˜…β˜†β˜†β˜†2020β†’ Residue 244
NM_006279.5(ST3GAL3):c.397+2T>CLikely pathogenic
Developmental and epileptic encephalopathy, 15
β˜…β˜†β˜†β˜†
NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter)Pathogenic
Developmental and epileptic encephalopathy, 15
β˜†β˜†β˜†β˜†2021β†’ Residue 220
NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro)Pathogenic
Developmental and epileptic encephalopathy, 15
β˜†β˜†β˜†β˜†2013β†’ Residue 320
View on ClinVar β†—
Related Genes
ST3GAL2Shared pathway78%ST6GALNAC5Shared pathway50%ST6GALNAC4Shared pathway50%B3GALT4Shared pathway50%ST3GAL1Shared pathway45%ST3GAL5Shared pathway43%
Tissue Expression6 tissues
Brain
100%
Ovary
100%
Liver
77%
Lung
65%
Bone Marrow
16%
Heart
9%
Gene Interaction Network
Click a node to explore
ST3GAL3ST3GAL2ST6GALNAC5ST6GALNAC4B3GALT4ST3GAL1ST3GAL5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q11203
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.57Moderately Constrained
pLIβ“˜
0.48Tolerant
Observed/Expected LoF0.40 [0.28–0.57]
RankingsWhere ST3GAL3 stands among ~20K protein-coding genes
  • #9,792of 20,598
    Most Researched43
  • #2,108of 5,498
    Most Pathogenic Variants22
  • #3,783of 17,882
    Most Constrained (LOEUF)0.57 Β· top quartile
Genes detectedST3GAL3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Attenuation of Sialylation Augments Antitumor Immunity and Improves Response to Immunotherapy in Ovarian Cancer.
PMID: 37172314
Cancer Res Β· 2023
1.00
2
Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene.
PMID: 37938134
Mol Genet Genomic Med Β· 2024
0.90
3
CCKBR+ cancer cells contribute to the intratumor heterogeneity of gastric cancer and confer sensitivity to FOXO inhibition.
PMID: 39164456
Cell Death Differ Β· 2024
0.80
4
Unraveling ADHD: genes, co-occurring traits, and developmental dynamics.
PMID: 40000109
Life Sci Alliance Β· 2025
0.70
5
The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
PMID: 37067065
Epilepsia Open Β· 2023
0.60