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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Exostosin-2
Summary
- UniProt ID
- Q93063
- Gene Symbol
-
- EXT2
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q93063
- PubChem
- Q93063
- The Human Metabolome Database
- HMDBP01702
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Epilepsy
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Hereditary multiple exostoses
- Intellectual disability
- Manganese
- Metal-binding
- Reference proteome
- Secreted
- Signal-anchor
- Transmembrane helix
- Tumor suppressor
- Gene Ontology (GO)
| GO Term |
|---|
| extracellular exosome |
| catalytic complex |
| UDP-N-acetylglucosamine transferase complex |
| endoplasmic reticulum |
| Golgi membrane |
| Golgi apparatus |
| membrane |
Sequence
MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEKRSIRDVPVVRLPADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGVSVSNTISREYNELLMAISDSDYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQLSRWDRGTNHLLFNMLPGGPPDYNTALDVPRDRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEVDLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESVLVLDKCTNLSEGVLSVRKRCHKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKRASVVVPEEKMSDVYSILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALATLQIINDRIYPYAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVPSLSKLLVVWNNQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAVLAIDDDIIMLTSDELQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFYHKYFNYLYTYKMPGDIKNWVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSECINKFASVFGTMPLKVVEHRADPVLYKDDFPEKLKSFPNIGSL
Glycosylation Sites
G83460ZZ
G17216OT
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective EXT1 causes exostoses 1, TRPS2 and CHDS | Homo sapiens |
| Defective EXT2 causes exostoses 2 | Homo sapiens |
| HS-GAG biosynthesis | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050328 | congenital hypothyroidism | |
| DOID:0050699 | Dent disease | |
| DOID:0060221 | Maffucci syndrome | |
| DOID:0060249 | scoliosis | |
| DOID:0060285 | parietal foramina | |
| DOID:0060467 | humeroradial synostosis | |
| DOID:0060672 | Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | |
| DOID:0060847 | Leri-Weill dyschondrosteosis | |
| DOID:0080001 | bone disease | |
| DOID:0080087 | nonsyndromic congenital nail disorder 9 |
