HS3ST2

Chr 16

heparan sulfate-glucosamine 3-sulfotransferase 2

Also known as: 30ST2, 3OST2

NCBI Gene: 9956 ENSG00000122254 UniProt: Q9Y278

The protein is a heparan sulfate 3-O-sulfotransferase that catalyzes the transfer of sulfate groups to specific glucosamine residues on heparan sulfate chains, which are critical for various cellular signaling processes in the nervous system. Mutations cause autosomal recessive intellectual disability with behavioral abnormalities and seizures, typically manifesting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.686), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008]

ResearchGenerating 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.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.69

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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