• Gene id: 8707

Gene Summary

• Gene Symbol: B3GALT2   Gene   UCSC   Ensembl
• Aliases: BETA3GALT2, GLCT2, beta3Gal-T2
• Gene name: beta-1,3-galactosyltransferase 2
• Alternate names: beta-1,3-galactosyltransferase 2, UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2, UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2, beta-1,3-GalTase 2, beta-3-galt2,
• Gene location: 1q31.2 (2151565: 2100987)     Exons: 32     NC_000019.10
• Gene summary(Entrez): This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and
• OMIM: 603018

Protein Summary

• Protein general information: O43825  
  • Name: Beta 1,3 galactosyltransferase 2 (Beta 1,3 GalTase 2) (Beta3Gal T2) (Beta3GalT2) (EC 2.4.1.86) (UDP galactose:2 acetamido 2 deoxy D glucose 3beta galactosyltransferase 2)
  • Length: 422  
  • Mass: 49213
  • Tissue specificity: Detected in heart and brain. {ECO
• Sequence:

  MLQWRRRHCCFAKMTWNAKRSLFRTHLIGVLSLVFLFAMFLFFNHHDWLPGRAGFKENPVTYTFRGFRSTKSETN
  HSSLRNIWKETVPQTLRPQTATNSNNTDLSPQGVTGLENTLSANGSIYNEKGTGHPNSYHFKYIINEPEKCQEKS
  PFLILLIAAEPGQIEARRAIRQTWGNESLAPGIQITRIFLLGLSIKLNGYLQRAILEESRQYHDIIQQEYLDTYY
  NLTIKTLMGMNWVATYCPHIPYVMKTDSDMFVNTEYLINKLLKPDLPPRHNYFTGYLMRGYAPNRNKDSKWYMPP
  DLYPSERYPVFCSGTGYVFSGDLAEKIFKVSLGIRRLHLEDVYVGICLAKLRIDPVPPPNEFVFNHWRVSYSSCK
  YSHLITSHQFQPSELIKYWNHLQQNKHNACANAAKEKAGRYRHRKLH

• Structural information:
  • Interpro: IPR002659  
  • STRING: ENSP00000356404
• Other Databases: GeneCards:  B3GALT2  Malacards:  B3GALT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008375	acetylglucosaminyltransferase activity	IBA	molecular function
GO:0006486	protein glycosylation	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0016758	transferase activity, transferring hexosyl groups	IBA	molecular function
GO:0009312	oligosaccharide biosynthetic process	IBA	biological process
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IBA	molecular function
GO:0008376	acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0006493	protein O-linked glycosylation	IBA	biological process
GO:0006487	protein N-linked glycosylation	IBA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	TAS	molecular function
GO:0006486	protein glycosylation	TAS	biological process
GO:0047275	glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity	IEA	molecular function
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IEA	molecular function
GO:0009312	oligosaccharide biosynthetic process	IEA	biological process
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IDA	molecular function
GO:0006682	galactosylceramide biosynthetic process	IDA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00601	Glycosphingolipid biosynthesis - lacto and neolacto series

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray