Exostosin-2 (IPR027673)

Short name: Exostosin-2

Overlapping homologous superfamilies


Family relationships


There are five identiied human EXT family proteins (EXT1, EXT2, EXTL1, EXTL2 and EXTL3), which are members of the hereditary multiple exostoses family of tumour suppressors [PMID: 17237233]. Exostosin-2 (EXT2) is a glycosyltransferase required for the biosynthesis of heparan-sulfate [PMID: 10639137]. Hereditary multiple exostoses, a genetic disorder characterised by multiple cartilaginous tumours, is caused by mutations in members of the EXT gene family, EXT1 or EXT2. EXT1 and EXT2 form a hetero-oligomeric complex that leads to the accumulation of both proteins in the Golgi apparatus [PMID: 10545594]. The Golgi-localised EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone [PMID: 10639137].

GO terms

Biological Process

GO:0006024 glycosaminoglycan biosynthetic process
GO:0015012 heparan sulfate proteoglycan biosynthetic process

Molecular Function

GO:0015020 glucuronosyltransferase activity

Cellular Component

GO:0016021 integral component of membrane

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.