Exostosin 2

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Alternative-splicing 5 Expression 6 Pathology 7 More General Terms 8 Additional Terms 9 Internet Database 10 References

Function

• glycosyltransferase
• required for biosynthesis of heparan-sulfate
• forms a homo/hetero- oligomeric complex with EXT1
• EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone
• appears to be a tumor suppressor
• protein modification; protein glycosylation
• interacts with GALNT5

Structure

• belongs to the glycosyltransferase 47 family

Compartment

• endoplasmic reticulum membrane
• single-pass type 2 membrane protein
• Golgi membrane
• EXT1/EXT2 complex is localized in the Golgi

Alternative-splicing

• named isoforms=2

Expression

• ubiquitous

Pathology

• defects in EXT2 are a cause of hereditary multiple exostoses type 2
• defects in EXT2 are the cause of multiple exostoses observed in Potocki-Shaffer syndrome

More General Terms

• membrane protein
• anti-oncoprotein (tumor suppressor protein)
• glycoprotein

Additional Terms

• exostosin-like protein

Internet Database

Entrez gene: 2132
Kegg: [1]
OMIM: 133701
OMIM: 601224
OMIM: 608210
UniProt: [2]

References

1. UniProt [3]
2. Atlas of Genetics & Cytogenetics in Oncology & Haematology [4]
3. GeneReviews [5]
4. GGDB; Note: glycogene database [6]

exostosin-2; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; tumor suppressor protein EXT2; multiple exostoses protein 2 (EXT2)