• Gene id: 2135

Gene Summary

• Gene Symbol: EXTL2   Gene   UCSC   Ensembl
• Aliases: EXTR2
• Gene name: exostosin like glycosyltransferase 2
• Alternate names: exostosin-like 2, EXT-related protein 2, alpha-1,4-N-acetylhexosaminyltransferase EXTL2, alpha-GalNAcT EXTL2, exostoses (multiple)-like 2, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, processed exostosin-like 2,
• Gene location: 1p21.2 (165078495: 164978897)     Exons: 48     NC_000003.12
• OMIM: 602411

Protein Summary

• Protein general information: Q9UBQ6  
  • Name: Exostosin like 2 (EC 2.4.1.223) (Alpha 1,4 N acetylhexosaminyltransferase EXTL2) (Alpha GalNAcT EXTL2) (EXT related protein 2) (Glucuronyl galactosyl proteoglycan 4 alpha N acetylglucosaminyltransferase) [Cleaved into: Processed exostosin like 2]
  • Length: 330  
  • Mass: 37466
  • Tissue specificity: Ubiquitous.
• Sequence:

  MRCCHICKLPGRVMGIRVLRLSLVVILVLLLVAGALTALLPSVKEDKMLMLRREIKSQGKSTMDSFTLIMQTYNR
  TDLLLKLLNHYQAVPNLHKVIVVWNNIGEKAPDELWNSLGPHPIPVIFKQQTANRMRNRLQVFPELETNAVLMVD
  DDTLISTPDLVFAFSVWQQFPDQIVGFVPRKHVSTSSGIYSYGSFEMQAPGSGNGDQYSMVLIGASFFNSKYLEL
  FQRQPAAVHALIDDTQNCDDIAMNFIIAKHIGKTSGIFVKPVNMDNLEKETNSGYSGMWHRAEHALQRSYCINKL
  VNIYDSMPLRYSNIMISQFGFPYANYKRKI

• Structural information:
  • Interpro: IPR004263  IPR015338  IPR029044  
  • STRING: ENSP00000359132
• Other Databases: GeneCards:  EXTL2  Malacards:  EXTL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006486	protein glycosylation	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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0001888	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0047237	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0019276	UDP-N-acetylgalactosamine metabolic process	IEA	biological process
GO:0005539	glycosaminoglycan binding	IEA	molecular function
GO:0035248	alpha-1,4-N-acetylgalactosaminyltransferase activity	IEA	molecular function
GO:0030145	manganese ion binding	IEA	molecular function
GO:0006044	N-acetylglucosamine metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0035248	alpha-1,4-N-acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0006044	N-acetylglucosamine metabolic process	IDA	biological process
GO:0019276	UDP-N-acetylgalactosamine metabolic process	IDA	biological process
GO:0001888	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)