ST8SIA2 Gene: ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 2
Key regulator of polysialic acid synthesis in neural development and disease
Gene Information Card
| Symbol | ST8SIA2 |
|---|---|
| Full Name | ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 8128 ncbi.nlm.nih.gov/gene/8128 |
| Ensembl ID | ENSG00000140557 |
| UniProt ID | Q92186 |
| OMIM ID | 602546 |
| HGNC ID | 10870 |
| Aliases | STX, SIAT8B, ST8SiaII, ST8Sia2 |
Description
ST8SIA2 encodes a type II membrane protein that catalyzes the transfer of sialic acid residues to form polysialic acid (polySia) chains on glycoproteins, primarily neural cell adhesion molecule (NCAM). This modification is critical for neural cell migration, axon guidance, synaptic plasticity, and brain development. The gene is predominantly expressed in the brain and is implicated in neuropsychiatric disorders including schizophrenia, bipolar disorder, and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered polysialylation of NCAM affects neural connectivity and synaptic function; genetic association studies link ST8SIA2 variants to increased risk. | OMIM, NCBI, ClinVar |
| Bipolar disorder | Polymorphisms in ST8SIA2 are associated with altered brain structure and function, contributing to mood dysregulation. | OMIM, NCBI |
| Autism spectrum disorder | Rare variants and altered expression of ST8SIA2 may disrupt neurodevelopmental processes involving cell adhesion and migration. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Cerebral cortex | 32.1 | High |
| Cerebellum | 25.0 | High |
| Hippocampus | 30.2 | High |
| Testis | 4.3 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model, high expression |
| U-87 MG (glioblastoma) | 12.5 | Glial model, moderate expression |
| HEK293 (embryonic kidney) | 0.8 | Low endogenous expression |
| HeLa (cervical carcinoma) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3759915 (c.1070C>T) | SNP | 0.15 (global) | Missense p.Thr357Met; associated with schizophrenia risk |
| rs2168351 (c.1243G>A) | SNP | 0.22 (global) | Intronic; linked to bipolar disorder |
| c.1A>G (p.Met1Val) | Missense | Rare | Start codon loss; loss of function |
| c.1486_1487del (p.Leu496fs) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations (e.g., p.Leu496fs, p.Met1Val) result in truncated or absent protein, reducing polysialyltransferase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ST8SIA2.
Dominant Negative (DN)
No evidence of dominant-negative effects for ST8SIA2 variants.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa00512 - Mucin type O-glycan biosynthesis
• KEGG: hsa00514 - Other types of O-glycan biosynthesis
• Reactome: R-HSA-913709 - O-linked glycosylation of mucins
• Reactome: R-HSA-4085001 - Polysialic acid biosynthesis
Protein Summary
ST8SIA2 is a 375-amino acid type II Golgi membrane protein (UniProt Q92186) that functions as a polysialyltransferase. It catalyzes the addition of alpha-2,8-linked sialic acid residues to glycoproteins, most notably NCAM. The enzyme is essential for the synthesis of polysialic acid (polySia), a large, negatively charged carbohydrate that modulates cell-cell interactions, neural plasticity, and migration. ST8SIA2 is highly expressed in the brain during development and adulthood, and its dysregulation is linked to neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST8SIA2 Knockout HEK293 Cell Line | EDJ-KQ6176 | Human | 8128 | Details Get a Quote |
| ST8SIA2 Knockout HeLa Cell Line | EDJ-KQ54825 | Human | 8128 | Details Get a Quote |
| ST8SIA2 Knockout A-549 Cell Line | EDJ-KQ63316 | Human | 8128 | Details Get a Quote |
| ST8SIA2 Knockout HCT 116 Cell Line | EDJ-KQ71787 | Human | 8128 | Details Get a Quote |
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