exostosin-2; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; tumor suppressor protein EXT2; multiple exostoses protein 2 (EXT2)
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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
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
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q93063.html
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/EXT2ID213.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/EXT2
- ↑ GGDB; Note: glycogene database http://riodb.ibase.aist.go.jp/rcmg/ggdb/
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2132
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2132
- OMIM: https://mirror.omim.org/entry/133701
- OMIM: https://mirror.omim.org/entry/601224
- OMIM: https://mirror.omim.org/entry/608210
- UniProt: http://www.uniprot.org/uniprot/Q93063.html