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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ST8SIA2
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
Chromosome 15 · 15q26.1
NCBI Gene: 8128Ensembl: ENSG00000140557.12HGNC: HGNC:10870UniProt: B2R9U8
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activityN-glycan processingsialylationglycoprotein biosynthetic processCOVID-19aortic diseasediabetic ketoacidosisclavicle fracture
✦AI Summary

ST8SIA2 encodes a polysialyltransferase that catalyzes the synthesis of polysialic acid (polySia) on glycoproteins, particularly the neural cell adhesion molecule NCAM1 1. This enzyme functions primarily in the nervous system, where it promotes oligodendrocyte differentiation and supports myelin integrity and repair 2. ST8SIA2-mediated polysialylation is crucial for proper brain development and function, influencing neuroplasticity, learning, memory, and social behaviors 3. The gene shows strong disease relevance, with genetic variants associated with psychiatric disorders including schizophrenia, bipolar disorder, and autism spectrum disorders 43. Lower ST8SIA2 promoter activity appears protective against schizophrenia by conferring tolerance to psychosocial stress and has been evolutionarily favored in human populations 5. ST8SIA2 variants also influence circadian rhythms and seasonal mood changes 6. Clinically, ST8SIA2 dysfunction impairs remyelination and motor recovery after demyelinating injury, while enhancement of ST8SIA2 activity promotes oligodendrocyte differentiation and myelin repair 2. The gene represents a potential therapeutic target for both psychiatric and demyelinating diseases.

Sources cited
1
ST8SIA2 catalyzes polysialic acid synthesis on glycoproteins including NCAM1
PMID: 32863045
2
ST8SIA2 promotes oligodendrocyte differentiation, myelin integrity, and repair after demyelination
PMID: 28760868
3
ST8SIA2-mediated polysialylation influences brain functions like learning, memory, and social behaviors
PMID: 27105834
4
ST8SIA2 genetic variants are associated with schizophrenia and bipolar disorder
PMID: 26418860
5
Lower ST8SIA2 promoter activity is protective against schizophrenia and has been evolutionarily favored
PMID: 34914745
6
ST8SIA2 variants influence circadian rhythms and seasonal mood changes
PMID: 29215920
Disease Associationsⓘ20
COVID-19Open Targets
0.32Weak
aortic diseaseOpen Targets
0.30Weak
diabetic ketoacidosisOpen Targets
0.24Weak
clavicle fractureOpen Targets
0.23Weak
frozen shoulderOpen Targets
0.23Weak
sign or symptomOpen Targets
0.21Weak
shoulder fractureOpen Targets
0.20Weak
ovarian neoplasmOpen Targets
0.20Weak
placental retentionOpen Targets
0.18Weak
brain aneurysmOpen Targets
0.10Weak
lymphatic system diseaseOpen Targets
0.10Suggestive
tooth diseaseOpen Targets
0.10Suggestive
immune system diseaseOpen Targets
0.10Suggestive
pyogenic granulomaOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.05Suggestive
hemolytic-uremic syndromeOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
childhood supratentorial ependymomaOpen Targets
0.04Suggestive
schizophreniaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NCAM1Protein interaction96%STX2Protein interaction96%STX1AProtein interaction94%DNAJB11Protein interaction76%ST6GALNAC4Protein interaction57%ST8SIA4Shared pathway40%
Tissue Expression6 tissues
Brain
100%
Heart
81%
Ovary
0%
Bone Marrow
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
ST8SIA2NCAM1STX2STX1ADNAJB11ST6GALNAC4ST8SIA4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q4VAY9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.43–0.86]
RankingsWhere ST8SIA2 stands among ~20K protein-coding genes
  • #9,793of 20,598
    Most Researched43
  • #7,504of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedST8SIA2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Polysialylation and disease.
PMID: 32863045
Mol Aspects Med · 2021
1.00
2
Relationship between ST8SIA2, polysialic acid and its binding molecules, and psychiatric disorders.
PMID: 27105834
Biochim Biophys Acta · 2016
0.90
3
Lower promoter activity of the ST8SIA2 gene has been favored in evolving human collective brains.
PMID: 34914745
PLoS One · 2021
0.80
4
Association between ST8SIA2 and the Risk of Schizophrenia and Bipolar I Disorder across Diagnostic Boundaries.
PMID: 26418860
PLoS One · 2015
0.70
5
Mental disorders and an acidic glycan-from the perspective of polysialic acid (PSA/polySia) and the synthesizing enzyme, ST8SIA2.
PMID: 30058042
Glycoconj J · 2018
0.60