NDST2 Gene: N-Deacetylase and N-Sulfotransferase 2
Key enzyme in heparan sulfate biosynthesis and mast cell function
Gene Information Card
| Symbol | NDST2 |
|---|---|
| Full Name | N-Deacetylase and N-Sulfotransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 8509 ncbi.nlm.nih.gov/gene/8509 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | P52849 |
| OMIM ID | 603268 |
| HGNC ID | 7681 |
| Aliases | HSST2, NST2, GlcNAc NDST2 |
Description
NDST2 encodes a bifunctional enzyme with both N-deacetylase and N-sulfotransferase activities, essential for the modification of heparan sulfate and heparin. It is particularly important in mast cells for heparin biosynthesis, influencing granule storage and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mastocytosis | Altered NDST2 expression may affect heparin production and mast cell degranulation | PMID: 12526792 |
| Heparan sulfate deficiency | Loss-of-function mutations impair heparan sulfate sulfation patterns | PMID: 10660595 |
| Cancer (various) | Dysregulated NDST2 expression alters tumor microenvironment via heparan sulfate remodeling | PMID: 21558396 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Mast cells | High | Tissue-specific high expression |
| Lung | 15.2 | Medium |
| Small intestine | 12.8 | Medium |
| Spleen | 10.5 | Medium |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HMC-1 (mast cell line) | High | Model for mast cell studies |
| HEK293 | Low | Low endogenous expression |
| HeLa | 2.5 | Low |
| K562 | 1.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function, truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.2% | Reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated, non-functional enzyme.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • [heparan sulfate N-deacetylase activity] (GO:0015016) | • [heparan sulfate N-sulfotransferase activity] (GO:0015017) |
| • [Golgi apparatus] (GO:0005794) | • [heparan sulfate proteoglycan biosynthetic process] (GO:0030203) |
Pathways
• Heparan sulfate/heparin biosynthesis (Reactome: R-HSA-2022928)
• Glycosaminoglycan metabolism (KEGG: hsa00532)
Protein Summary
NDST2 is a 883-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes the first modification steps in heparan sulfate and heparin biosynthesis: N-deacetylation of N-acetylglucosamine residues followed by N-sulfation. The enzyme is critical for mast cell heparin production, affecting granule storage of proteases and histamine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDST2 Knockout HEK293 Cell Line | EDJ-KQ6262 | Human | 8509 | Details Get a Quote |
| NDST2 Knockout A-549 Cell Line | EDJ-KQ30145 | Human | 8509 | Details Get a Quote |
| NDST2 Knockout HeLa Cell Line | EDJ-KQ30147 | Human | 8509 | Details Get a Quote |
| NDST2 Knockout HCT 116 Cell Line | EDJ-KQ28836 | Human | 8509 | Details Get a Quote |
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