NDST2

Chr 10

N-deacetylase and N-sulfotransferase 2

ENSG00000166507UniProt: P52849OMIM: 603268

Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate (By similarity). Exhibits N-deacetylase activity (PubMed:16343444). Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis (By similarity). Plays a role in determining the extent and pattern of sulfation of heparan sulfate (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). Essential for the biosynthesis of sulfated heparin in mast cells, thereby enabling proper secretory granule formation and storage of mast-cell proteases (By similarity)

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.42
LOEUF
—
Mechanism
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.42LOEUF
pLI 0.128
Z-score 4.44
OE 0.25 (0.15–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.55Z-score
OE missense 0.81 (0.75–0.88)
437 obs / 538.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.25 (0.15–0.42)
0≤0.351.4
Missense OE?0.81 (0.75–0.88)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 10 / 40.5Missense obs/exp: 437 / 538.5Syn Z: 0.31

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

NDST2 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients