ST8SIA2

Chr 15

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2

Also known as: HsT19690, SIAT8-B, SIAT8B, ST8SIA-II, ST8SiaII, STX

NCBI Gene: 8128ENSG00000140557UniProt: Q92186

The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]

87
ClinVar variants
41
Pathogenic / LP
0.06
pLI score
0
Active trials
Clinical Summary— ST8SIA2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.
📋
ClinVar Variants
41 Pathogenic / Likely Pathogenic· 39 VUS of 87 total submissions
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?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.65LOEUF
pLI 0.058
Z-score 2.57
OE 0.31 (0.16–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.50Z-score
OE missense 0.72 (0.63–0.82)
160 obs / 223.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.31 (0.16–0.65)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.72 (0.63–0.82)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.16
0≤1.21.6
LoF obs/exp: 5 / 16.2Missense obs/exp: 160 / 223.3Syn Z: -1.28

ClinVar Variant Classifications

87 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic37
Likely Pathogenic4
VUS39
Likely Benign6
Benign1
37
Pathogenic
4
Likely Pathogenic
39
VUS
6
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
37
0
37
Likely Pathogenic
0
0
4
0
4
VUS
0
38
1
0
39
Likely Benign
0
0
3
3
6
Benign
0
0
0
1
1
Total03845487

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

View in ClinVar →

Protein Context — Lollipop Plot

ST8SIA2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Association between ST8SIA2 and the Risk of Schizophrenia and Bipolar I Disorder across Diagnostic Boundaries.
Yang SY et al.·PLoS One
2015
A meta-analysis of bulk RNA-seq datasets identifies potential biomarkers and repurposable therapeutics against Alzheimer's disease.
Lamisa AB et al.·Sci Rep
2024Meta-analysis
Identification of a buried β-strand as a novel disease-related motif in the human polysialyltransferases.
Hatanaka R et al.·J Biol Chem
2024
Lower promoter activity of the ST8SIA2 gene has been favored in evolving human collective brains.
Hayakawa T et al.·PLoS One
2021
Results of the European Group for the Study of Resistant Depression (GSRD) - basis for further research and clinical practice.
Bartova L et al.·World J Biol Psychiatry
2019Review
Modification of sialylation mediates the invasive properties and chemosensitivity of human hepatocellular carcinoma.
Zhao Y et al.·Mol Cell Proteomics
2014
Characterization of Distinct Populations of Carcinoma-Associated Fibroblasts from Non-Small Cell Lung Carcinoma Reveals a Role for ST8SIA2 in Cancer Cell Invasion.
Hao J et al.·Neoplasia
2019
Weight loss after gastric bypass is associated with a variant at 15q26.1.
Hatoum IJ et al.·Am J Hum Genet
2013
Identification of sialyltransferase 8B as a generalized susceptibility gene for psychotic and mood disorders on chromosome 15q25-26.
McAuley EZ et al.·PLoS One
2012
The combined effect of genetic polymorphisms and clinical parameters on treatment outcome in treatment-resistant depression.
Kautzky A et al.·Eur Neuropsychopharmacol
2015
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
ST8Sia2 polysialyltransferase protects against infection by Trypanosoma cruzi.
Barboza BR et al.·PLoS Negl Trop Dis
2024🔓 Open Access
Synthesis of α-Hydroxy-1,2,3-Triazole-linked Sialyltransferase Inhibitors and Evaluation of Selectivity Towards ST3GAL1, ST6GAL1 and ST8SIA2.
Szabo R et al.·ChemMedChem
2024
Retracted: Long Noncoding RNA TUG1 Aggravates Cerebral Ischemia/Reperfusion Injury by Acting as a ceRNA for miR-3072-3p to Target St8sia2.
Longevity OMAC.·Oxid Med Cell Longev
2024🔓 Open Access
The association between ST8SIA2 gene and behavioral phenotypes in children with autism spectrum disorder.
Yang X et al.·Front Behav Neurosci
2022🔓 Open Access
Long Noncoding RNA TUG1 Aggravates Cerebral Ischemia/Reperfusion Injury by Acting as a ceRNA for miR-3072-3p to Target St8sia2.
Chen M et al.·Oxid Med Cell Longev
2022🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

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