• Gene id: 2132

Gene Summary

• Gene Symbol: EXT2   Gene   UCSC   Ensembl
• Aliases: SOTV, SSMS
• Gene name: exostosin glycosyltransferase 2
• Alternate names: exostosin-2, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, multiple exostoses protein 2, multiple exostosis 2, putativ,
• Gene location: 11p11.2 (44095658: 44251980)     Exons: 18     NC_000011.10
• Gene summary(Entrez): This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isof
• OMIM: 618749

Protein Summary

• Protein general information: Q93063  
  • Name: Exostosin 2 (EC 2.4.1.224) (EC 2.4.1.225) (Glucuronosyl N acetylglucosaminyl proteoglycan/N acetylglucosaminyl proteoglycan 4 alpha N acetylglucosaminyltransferase) (Multiple exostoses protein 2) (Putative tumor suppressor protein EXT2)
  • Length: 718  
  • Mass: 82255
  • Tissue specificity: Ubiquitous.
• Sequence:

  MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEKRSIRDVPVVRLPADS
  PIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGVSVSNTISREYNELLMAISDSDYYTDDINRA
  CLFVPSIDVLNQNTLRIKETAQAMAQLSRWDRGTNHLLFNMLPGGPPDYNTALDVPRDRALLAGGGFSTWTYRQG
  YDVSIPVYSPLSAEVDLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESVLVLDKCTNLSEGVLSVRKRC
  HKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKRASVVVPEEKMSDVYS
  ILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALATLQIINDRIYPYAAISYEEWNDPPAVKWGSVSNPLFLPLIP
  PQSQGFTAIVLTYDRVESLFRVITEVSKVPSLSKLLVVWNNQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFP
  YDEIETEAVLAIDDDIIMLTSDELQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFY
  HKYFNYLYTYKMPGDIKNWVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSE
  CINKFASVFGTMPLKVVEHRADPVLYKDDFPEKLKSFPNIGSL

• Structural information:
  • Interpro: IPR004263  IPR027673  IPR040911  IPR015338  IPR029044  
  • STRING: ENSP00000379032
• Other Databases: GeneCards:  EXT2  Malacards:  EXT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016757	transferase activity, transferring glycosyl groups	IBA	molecular function
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006486	protein glycosylation	IEA	biological process
GO:0015020	glucuronosyltransferase activity	IEA	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	IEA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0015020	glucuronosyltransferase activity	IEA	molecular function
GO:0008375	acetylglucosaminyltransferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0008375	acetylglucosaminyltransferase activity	IDA	contributes to
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	NOT|molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IDA	molecular function
GO:0042328	heparan sulfate N-acetylglucosaminyltransferase activity	NAS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	NAS	molecular function
GO:0033692	cellular polysaccharide biosynthetic process	IDA	biological process
GO:0006024	glycosaminoglycan biosynthetic process	IDA	biological process
GO:0001503	ossification	IMP	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IMP	biological process
GO:0043541	UDP-N-acetylglucosamine transferase complex	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IBA	molecular function
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006486	protein glycosylation	IEA	biological process
GO:0015020	glucuronosyltransferase activity	IEA	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	IEA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0015020	glucuronosyltransferase activity	IEA	molecular function
GO:0008375	acetylglucosaminyltransferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0008375	acetylglucosaminyltransferase activity	IDA	contributes to
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	NOT|molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IDA	molecular function
GO:0042328	heparan sulfate N-acetylglucosaminyltransferase activity	NAS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	NAS	molecular function
GO:0033692	cellular polysaccharide biosynthetic process	IDA	biological process
GO:0006024	glycosaminoglycan biosynthetic process	IDA	biological process
GO:0001503	ossification	IMP	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IMP	biological process
GO:0043541	UDP-N-acetylglucosamine transferase complex	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate / heparin

Diseases

Associated diseases	References
Heparan sulfate proteoglycan gene defects	KEGG:H00493
Multiple exostoses	KEGG:H00122
Heparan sulfate proteoglycan gene defects	KEGG:H00493
Multiple exostoses	KEGG:H00122
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray