• Gene id: 124872

Gene Summary

• Gene Symbol: B4GALNT2   Gene   UCSC   Ensembl
• Aliases: B4GALT, GALGT2
• Gene name: beta-1,4-N-acetyl-galactosaminyltransferase 2
• Alternate names: beta-1,4 N-acetylgalactosaminyltransferase 2, UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase, UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase, beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-Gal,
• Gene location: 17q21.32 (49120346: 49176839)     Exons: 13     NC_000017.11
• Gene summary(Entrez): B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 a
• OMIM: 616666

Protein Summary

• Protein general information: Q8NHY0  
  • Name: Beta 1,4 N acetylgalactosaminyltransferase 2 (EC 2.4.1. ) (Sd(a) beta 1,4 GalNAc transferase) (UDP GalNAc:Neu5Aca2 3Galb R b1,4 N acetylgalactosaminyltransferase)
  • Length: 566  
  • Mass: 63258
  • Tissue specificity: Widely expressed. Highly expressed in colon and to a lesser extent in kidney, stomach, ileum and rectum. {ECO
• Sequence:

  MGSAGFSVGKFHVEVASRGRECVSGTPECGNRLGSAGFGALCLELRGADPAWGPFAAHGRSRRQGSRFLWLLKIL
  VIILVLGIVGFMFGSMFLQAVFSSPKPELPSPAPGVQKLKLLPEERLRNLFSYDGIWLFPKNQCKCEANKEQGGY
  NFQDAYGQSDLPAVKARRQAEFEHFQRREGLPRPLPLLVQPNLPFGYPVHGVEVMPLHTVPIPGLQFEGPDAPVY
  EVTLTASLGTLNTLADVPDSVVQGRGQKQLIISTSDRKLLKFILQHVTYTSTGYQHQKVDIVSLESRSSVAKFPV
  TIRHPVIPKLYDPGPERKLRNLVTIATKTFLRPHKLMIMLRSIREYYPDLTVIVADDSQKPLEIKDNHVEYYTMP
  FGKGWFAGRNLAISQVTTKYVLWVDDDFLFNEETKIEVLVDVLEKTELDVVGGSVLGNVFQFKLLLEQSENGACL
  HKRMGFFQPLDGFPSCVVTSGVVNFFLAHTERLQRVGFDPRLQRVAHSEFFIDGLGTLLVGSCPEVIIGHQSRSP
  VVDSELAALEKTYNTYRSNTLTRVQFKLALHYFKNHLQCAA

• Structural information:
  • Interpro: IPR001173  IPR011143  IPR029044  
  • STRING: ENSP00000300404
• Other Databases: GeneCards:  B4GALNT2  Malacards:  B4GALNT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006047	UDP-N-acetylglucosamine metabolic process	IBA	biological process
GO:0008376	acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0019276	UDP-N-acetylgalactosamine metabolic process	IBA	biological process
GO:0030173	integral component of Golgi membrane	IEA	cellular component
GO:0030259	lipid glycosylation	IEA	biological process
GO:0016758	transferase activity, transferring hexosyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	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:0008376	acetylgalactosaminyltransferase activity	TAS	molecular function
GO:0018279	protein N-linked glycosylation via asparagine	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006486	protein glycosylation	IEA	biological process
GO:0006047	UDP-N-acetylglucosamine metabolic process	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0019276	UDP-N-acetylgalactosamine metabolic process	IDA	biological process
GO:0019276	UDP-N-acetylgalactosamine metabolic process	IDA	biological process
GO:0008376	acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0008376	acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0022408	negative regulation of cell-cell adhesion	IDA	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016021	integral component of membrane	NAS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq