• Gene id: 135152

Gene Summary

• Gene Symbol: B3GAT2   Gene   UCSC   Ensembl
• Aliases: GLCATS
• Gene name: beta-1,3-glucuronyltransferase 2
• Alternate names: galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2, UDP-glucuronosyltransferase S, UDP-glucuronyltransferase S, glcAT-D, glucuronosyltransferase S, uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase,
• Gene location: 6q13 (70957059: 70856678)     Exons: 10     NC_000006.12
• Gene summary(Entrez): The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4G
• OMIM: 607497

Protein Summary

• Protein general information: Q9NPZ5  
  • Name: Galactosylgalactosylxylosylprotein 3 beta glucuronosyltransferase 2 (EC 2.4.1.135) (Beta 1,3 glucuronyltransferase 2) (GlcAT D) (UDP glucuronosyltransferase S) (GlcAT S) (Glucuronosyltransferase S)
  • Length: 323  
  • Mass: 36919
  • Tissue specificity: Expressed in the trachea, retina, spinal cord, hippocampus and other brain regions, and, at lower levels, in testis and ovary.
• Sequence:

  MKSALFTRFFILLPWILIVIIMLDVDTRRPVPPLTPRPYFSPYAVGRGGARLPLRRGGPAHGTQKRNQSRPQPQP
  EPQLPTIYAITPTYSRPVQKAELTRLANTFRQVAQLHWILVEDAAARSELVSRFLARAGLPSTHLHVPTPRRYKR
  PGLPRATEQRNAGLAWLRQRHQHQRAQPGVLFFADDDNTYSLELFQEMRTTRKVSVWPVGLVGGRRYERPLVENG
  KVVGWYTGWRADRPFAIDMAGFAVSLQVILSNPKAVFKRRGSQPGMQESDFLKQITTVEELEPKANNCTKVLVWH
  TRTEKVNLANEPKYHLDTVKIEV

• Structural information:
  • Interpro: IPR005027  IPR029044  
  • CDD: cd00218
  • PDB: 2D0J
  • PDBsum: 2D0J
  • STRING: ENSP00000230053
• Other Databases: GeneCards:  B3GAT2  Malacards:  B3GAT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	IBA	cellular component
GO:0005975	carbohydrate metabolic process	IBA	biological process
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IBA	molecular function
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IBA	biological process
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0030203	glycosaminoglycan metabolic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Schizophrenia	PMID:20950796
Barrett's esophagus	PMID:26545406
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881