EXT2 Gene
Exostosin Glycosyltransferase 2
Gene Information Card
| Symbol | EXT2 |
|---|---|
| Full Name | Exostosin Glycosyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 2132 ncbi.nlm.nih.gov/gene/2132 |
| Ensembl ID | ENSG00000117862 |
| UniProt ID | Q93063 |
| OMIM ID | 608210 |
| HGNC ID | 3513 |
| Aliases | SLC26C2, MGC2610 |
Description
The EXT2 gene encodes a glycosyltransferase involved in the biosynthesis of heparan sulfate, a component of the extracellular matrix. It forms a hetero-oligomeric complex with EXT1 to catalyze the polymerization of heparan sulfate chains. Mutations in EXT2 are associated with hereditary multiple exostoses (HME), an autosomal dominant disorder characterized by multiple benign bone tumors (osteochondromas).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Multiple Exostoses (HME) | Loss-of-function mutations in EXT2 disrupt heparan sulfate synthesis, leading to abnormal bone growth and osteochondroma formation. | OMIM #133701; ClinVar |
| Exostosis (Multiple, Type 2) | Heterozygous germline mutations in EXT2 cause autosomal dominant HME type 2. | OMIM #608210; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Low |
| Heart | 6.5 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.3 | Low |
| Lung | 5.9 | Low |
| Testis | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Moderate expression |
| HeLa | 7.2 | Low expression |
| HepG2 | 5.6 | Low expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.940C>T (p.Arg314*) | Nonsense | Rare | Premature stop codon; loss of function |
| c.1129G>A (p.Gly377Arg) | Missense | Rare | Impaired glycosyltransferase activity |
| c.1465delC (p.Leu489Trpfs*2) | Frameshift | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most EXT2 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to haploinsufficiency and defective heparan sulfate polymerization.
Gain of Function (GOF)
No gain-of-function mutations reported for EXT2.
Dominant Negative (DN)
Dominant-negative effects are not typical; disease mechanism is primarily haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • heparan sulfate polymerization (GO:0015015) | • glycosyltransferase activity (GO:0016757) |
| • extracellular matrix organization (GO:0030198) | • Golgi membrane (GO:0000139) |
Pathways
• Heparan sulfate biosynthesis (Reactome R-HSA-2022928)
• Glycosaminoglycan metabolism (KEGG hsa00532)
Protein Summary
Exostosin-2 (EXT2) is a 718-amino acid type II transmembrane glycoprotein localized to the Golgi apparatus. It functions as a glycosyltransferase that, together with EXT1, catalyzes the alternating addition of glucuronic acid and N-acetylglucosamine to form heparan sulfate chains. Heparan sulfate is critical for cell signaling, growth factor binding, and extracellular matrix integrity. Loss of EXT2 function leads to reduced heparan sulfate levels, disrupting endochondral ossification and causing osteochondromas.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EXT2 Knockout HEK293 Cell Line | EDJ-KQ1811 | Human | 2132 | Details Get a Quote |
| EXT2 Knockout A-549 Cell Line | EDJ-KQ23010 | Human | 2132 | Details Get a Quote |
| EXT2 Knockout HCT 116 Cell Line | EDJ-KQ23012 | Human | 2132 | Details Get a Quote |
| EXT2 Knockout HeLa Cell Line | EDJ-KQ23013 | Human | 2132 | Details Get a Quote |
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