NEU2: Sialidase-2, Cytosolic Sialidase
Gene encoding a cytosolic sialidase involved in glycoprotein and glycolipid catabolism
Gene Information Card
| Symbol | NEU2 |
|---|---|
| Full Name | Neuraminidase 2 (cytosolic sialidase) |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 4759 ncbi.nlm.nih.gov/gene/4759 |
| Ensembl ID | ENSG00000115414 |
| UniProt ID | Q9Y3R4 |
| OMIM ID | 605528 |
| HGNC ID | 7759 |
| Aliases | SIAL2, cytosolic sialidase |
Description
NEU2 encodes a cytosolic sialidase that cleaves terminal sialic acid residues from glycoproteins, glycolipids, and oligosaccharides. It is involved in the catabolism of sialoglycoconjugates and plays roles in cell differentiation, adhesion, and signaling. The enzyme is expressed in various tissues and is implicated in cancer progression and lysosomal storage disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sialidosis (type I/II) | Deficiency in NEU2 activity leads to accumulation of sialylated glycopeptides | OMIM #256550 |
| Cancer (multiple types) | Altered NEU2 expression affects cell surface sialylation, influencing metastasis and immune evasion | COSMIC, PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 5.2 | Medium |
| Heart | 3.8 | Low |
| Brain | 2.1 | Low |
| Liver | 1.5 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 6.7 | Cervical cancer cell line |
| A549 | 4.3 | Lung carcinoma |
| MCF7 | 3.1 | Breast cancer |
| HepG2 | 2.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.544C>T (p.Arg182Trp) | Missense | Rare | Reduced enzymatic activity |
| c.679G>A (p.Glu227Lys) | Missense | Rare | Impaired substrate binding |
| c.103delC | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish sialidase activity, leading to sialidosis phenotypes.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • exo-alpha-sialidase activity (GO:0004308) | • protein binding (GO:0005515) |
| • lysosome (GO:0005764) | • cytosol (GO:0005829) |
| • macroautophagy (GO:0016236) | • hydrolase activity (GO:0016787) |
| • protein deglycosylation (GO:0043419) |
Pathways
• Glycosphingolipid metabolism (KEGG: hsa00603)
• Sphingolipid signaling pathway (KEGG: hsa04071)
• Lysosome (KEGG: hsa04142)
Protein Summary
NEU2 encodes a 45 kDa cytosolic sialidase (EC 3.2.1.18) that hydrolyzes terminal sialic acids from glycoconjugates. It is a member of the glycosyl hydrolase family 33. The enzyme is active at neutral pH and is involved in cellular processes such as differentiation, adhesion, and immune modulation. Mutations in NEU2 cause sialidosis, a lysosomal storage disorder characterized by progressive neurological symptoms and myoclonus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEU2 Knockout HEK293 Cell Line | EDJ-KQ5331 | Human | 4759 | Details Get a Quote |
| NEU2 Knockout HeLa Cell Line | EDJ-KQ53984 | Human | 4759 | Details Get a Quote |
| NEU2 Knockout A-549 Cell Line | EDJ-KQ62475 | Human | 4759 | Details Get a Quote |
| NEU2 Knockout HCT 116 Cell Line | EDJ-KQ70942 | Human | 4759 | Details Get a Quote |
