InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EXT2

Summary

InnateDB Protein

IDBP-40704.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EXT2

Protein Name

exostosin 2

Synonyms

SOTV;

Species

Homo sapiens

Ensembl Protein

ENSP00000342656

InnateDB Gene

IDBG-40702 (EXT2)

Protein Structure

UniProt Annotation

Function

Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269PubMed:10679296}. Golgi apparatus membrane {ECO:0000269PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269PubMed:10679296}. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.

Disease Associations

Hereditary multiple exostoses 2 (EXT2) [MIM:133701]: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. {ECO:0000269PubMed:10429361, ECO:0000269PubMed:10480354, ECO:0000269PubMed:10738008, ECO:0000269PubMed:11169766, ECO:0000269PubMed:11170095, ECO:0000269PubMed:11432960, ECO:0000269PubMed:11668521, ECO:0000269PubMed:9326317}. Note=The disease is caused by mutations affecting the gene represented in this entry.Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases. Note=The gene represented in this entry is involved in disease pathogenesis.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	27 [view]
Protein-Protein	27 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008375	acetylglucosaminyltransferase activity
GO:0015020	glucuronosyltransferase activity
GO:0016757	transferase activity, transferring glycosyl groups
GO:0016758	transferase activity, transferring hexosyl groups
GO:0042328	heparan sulfate N-acetylglucosaminyltransferase activity
GO:0046982	protein heterodimerization activity
GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

Biological Process

GO:0001503	ossification
GO:0005975	carbohydrate metabolic process
GO:0006024	glycosaminoglycan biosynthetic process
GO:0006486	protein glycosylation
GO:0007165	signal transduction
GO:0015012	heparan sulfate proteoglycan biosynthetic process
GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0030203	glycosaminoglycan metabolic process
GO:0033692	cellular polysaccharide biosynthetic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0000139	Golgi membrane
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005794	Golgi apparatus
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031227	intrinsic component of endoplasmic reticulum membrane
GO:0070062	extracellular vesicular exosome