• Gene id: 374907

Gene Summary

• Gene Symbol: B3GNT8   Gene   UCSC   Ensembl
• Aliases: B3GALT7, BGALT15, beta3Gn-T8
• Gene name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
• Alternate names: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8, BGnT-8, UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 7, beta galactosyltransferase BGALT15, beta-1,3-Gn-T8, beta-1,3-N-acetylglucosaminyltransferase 8, beta1,3-N-acetylglucosaminyltran,
• Gene location: 19q13.2 (41429023: 41425358)     Exons: 2     NC_000019.10
• OMIM: 604561

Protein Summary

• Protein general information: Q7Z7M8  
  • Name: UDP GlcNAc:betaGal beta 1,3 N acetylglucosaminyltransferase 8 (BGnT 8) (Beta 1,3 Gn T8) (Beta 1,3 N acetylglucosaminyltransferase 8) (Beta3Gn T8) (EC 2.4.1. )
  • Length: 397  
  • Mass: 43396
  • Tissue specificity: Highly expressed in small intestine, pancreas, spleen, bone marrow, lung, throat, and ileum, and weakly in fetal brain, cerebellum, heart, liver, tongue, breast, uteri, and testis. Not detected in colon. Differentially expressed in hum
• Sequence:

  MRCPKCLLCLSALLTLLGLKVYIEWTSESRLSKAYPSPRGTPPSPTPANPEPTLPANLSTRLGQTIPLPFAYWNQ
  QQWRLGSLPSGDSTETGGCQAWGAAAATEIPDFASYPKDLRRFLLSAACRSFPQWLPGGGGSQVSSCSDTDVPYL
  LLAVKSEPGRFAERQAVRETWGSPAPGIRLLFLLGSPVGEAGPDLDSLVAWESRRYSDLLLWDFLDVPFNQTLKD
  LLLLAWLGRHCPTVSFVLRAQDDAFVHTPALLAHLRALPPASARSLYLGEVFTQAMPLRKPGGPFYVPESFFEGG
  YPAYASGGGYVIAGRLAPWLLRAAARVAPFPFEDVYTGLCIRALGLVPQAHPGFLTAWPADRTADHCAFRNLLLV
  RPLGPQASIRLWKQLQDPRLQC

• Structural information:
  • Interpro: IPR002659  
  • STRING: ENSP00000312700
• Other Databases: GeneCards:  B3GNT8  Malacards:  B3GNT8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016262	protein N-acetylglucosaminyltransferase activity	IDA	molecular function
GO:0030311	poly-N-acetyllactosamine biosynthetic process	IDA	biological process
GO:0030311	poly-N-acetyllactosamine biosynthetic process	IBA	biological process
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:0008532	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IBA	molecular function
GO:0008376	acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0006493	protein O-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: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:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq