exostosin glycosyltransferase 2

Summary
Gene Symbol
  • EXT2
Aliases
  • Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
  • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
  • SOTV
Organism
Homo sapiens (human)
External Links
NCBI Gene
2132
GGDB ID
HGNC
3513
mRNA
map
  • 11p12-p11
Protein
OMIM
KEGG Gene ID
hsa:2132
PubChem
2132
Alliance of Genome Resources
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
Proteins
Displaying 1 entry
UniProt Protein Name
Q93063
  • Exostosin glycosyltransferase 2
  • Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
  • Heparan sulfate co-polymerase subunit EXT1
  • Multiple exostoses protein 2
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg159
Gene Symbol
  • EXT2
Reactions
Displaying all 4 entries
Donor Acceptor Product Reference
UDP-GalNAc
G14371GV
UDP-GalNAc
G99041PQ
UDP-GlcUA
G14371GV
UDP-GlcUA
G99041PQ
Displaying all 4 entries
Donor Acceptor Product Reference
UDP-GlcUA
G14371GV
UDP-GalNAc
G14371GV
UDP-GalNAc
G99041PQ
UDP-GlcUA
G99041PQ
Orthologous Gene
KEGG BRITE Database
Orthology
K02367
Name
glucuronyl/N-acetylglucosaminyl transferase EXT2 [EC:2.4.1.224 2.4.1.225]
References
Reactions
Displaying all 2 entries
KEGG Reaction Enzyme Acceptor Product
R10138
R05935
Disease
Disease Ontology
Displaying entries 1 - 10 of 91 in total
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
The Human Phenotype Ontology
Displaying entries 131 - 132 of 132 in total
HPO ID HPO Term
HP:0100749 Chest pain
HP:0100777 Exostoses
Displaying all 5 entries
Disease ID Disease Name
ORPHA:321
  • hereditary multiple osteochondromas
ORPHA:52022
  • Potocki-Shaffer syndrome
OMIM:616682
  • seizures-scoliosis-macrocephaly syndrome
OMIM:133701
  • exostoses, multiple, type 2
ORPHA:466926
  • seizures-scoliosis-macrocephaly syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024