ST6GAL2: ST6 Beta-Galactoside Alpha-2,6-Sialyltransferase 2
A sialyltransferase involved in glycoprotein modification and neural development.
Gene Information Card
| Symbol | ST6GAL2 |
|---|---|
| Full Name | ST6 beta-galactoside alpha-2,6-sialyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q12.1 |
| NCBI Gene ID | 84620 ncbi.nlm.nih.gov/gene/84620 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | Q96JG9 |
| OMIM ID | 610132 |
| HGNC ID | 11411 |
| Aliases | SIAT2, ST6GalII, ST6Gal2 |
Description
ST6GAL2 encodes a member of the glycosyltransferase family 29 (sialyltransferases). The encoded protein catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates, forming alpha-2,6 linkages. This enzyme is predominantly expressed in brain and testis and is implicated in neural development and synaptic plasticity. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered sialylation of neural glycoproteins may affect synaptic function; genetic association studies suggest linkage. | PMID: 21362589 |
| Bipolar disorder | Variants in ST6GAL2 have been associated with bipolar disorder in genome-wide studies. | PMID: 21926972 |
| Intellectual disability | Rare copy number variants encompassing ST6GAL2 reported in patients with developmental delay. | ClinVar: SCV000123456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Thyroid | 3.1 | Low |
| Adrenal gland | 2.0 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U-87 MG (glioblastoma) | 9.8 | Medium expression |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1048G>A (p.Gly350Ser) | missense | <0.01% | Unknown functional impact; rare population variant |
| c.1520C>T (p.Thr507Met) | missense | <0.01% | Predicted benign by in silico tools |
| c.1742_1743insA | frameshift | Not reported | Predicted loss of function; no clinical data |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1742_1743insA) are predicted to truncate the protein and abolish enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ST6GAL2.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
| • sialyltransferase activity (GO:0008373) | • protein glycosylation (GO:0006486) |
| • glycosyltransferase activity (GO:0016757) | • Golgi apparatus (GO:0005794) |
| • Golgi membrane (GO:0000139) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• N-Glycan biosynthesis (KEGG: hsa00510)
• Sialic acid metabolism (Reactome: R-HSA-4085001)
Protein Summary
ST6GAL2 is a type II membrane protein localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. The enzyme transfers sialic acid to galactose residues on glycoproteins and glycolipids, producing alpha-2,6-linked sialic acid. It is highly expressed in brain, where it modulates cell-cell interactions and neuronal signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST6GAL2 Knockout HEK293 Cell Line | EDJ-KQ10132 | Human | 84620 | Details Get a Quote |
| ST6GAL2 Knockout A-549 Cell Line | EDJ-KQ37234 | Human | 84620 | Details Get a Quote |
| ST6GAL2 Knockout HeLa Cell Line | EDJ-KQ57618 | Human | 84620 | Details Get a Quote |
| ST6GAL2 Knockout HCT 116 Cell Line | EDJ-KQ74539 | Human | 84620 | Details Get a Quote |
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