EXT2

Chr 11ADAR

exostosin glycosyltransferase 2

Also known as: SOTV, SSMS

NCBI Gene: 2132 ENSG00000151348 UniProt: Q93063 OMIM: 133701

This gene encodes a glycosyltransferase that catalyzes chain elongation during heparan sulfate biosynthesis in the Golgi apparatus. Mutations cause multiple exostoses type 2 and seizures, scoliosis, and macrocephaly syndrome through both autosomal dominant and autosomal recessive inheritance patterns. The pathogenic mechanism involves dominant negative effects that disrupt normal heparan sulfate production.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Exostoses, multiple, type 2MIM #133701

Seizures, scoliosis, and macrocephaly syndromeMIM #616682

UniProtHereditary multiple exostoses 2

Clinical highlights

Gene-disease validity (ClinGen)

exostoses, multiple, type 2 · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.77

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — EXT2