• Gene id: 8704

Gene Summary

• Gene Symbol: B4GALT2   Gene   UCSC   Ensembl
• Aliases: B4Gal-T2, B4Gal-T3, beta4Gal-T2
• Gene name: beta-1,4-galactosyltransferase 2
• Alternate names: beta-1,4-galactosyltransferase 2, N-acetyllactosamine synthase, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2, UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 2, UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 2, UDP-galactose:beta-N-a,
• Gene location: 1p34.1 (43979201: 43991170)     Exons: 10     NC_000001.11
• Gene summary(Entrez): This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to si
• OMIM: 604013

Protein Summary

• Protein general information: O60909  
  • Name: Beta 1,4 galactosyltransferase 2 (Beta 1,4 GalTase 2) (Beta4Gal T2) (b4Gal T2) (EC 2.4.1. ) (Beta N acetylglucosaminyl glycolipid beta 1,4 galactosyltransferase) (Beta N acetylglucosaminylglycopeptide beta 1,4 galactosyltransferase) (EC 2.4.1.38) (Lactose
  • Length: 372  
  • Mass: 41972
  • Tissue specificity: Weakly expressed in various tissues. Highest expression in prostate, testis, ovary, intestine, muscle, and in fetal brain. {ECO
• Sequence:

  MSRLLGGTLERVCKAVLLLCLLHFLVAVILYFDVYAQHLAFFSRFSARGPAHALHPAASSSSSSSNCSRPNATAS
  SSGLPEVPSALPGPTAPTLPPCPDSPPGLVGRLLIEFTSPMPLERVQRENPGVLMGGRYTPPDCTPAQTVAVIIP
  FRHREHHLRYWLHYLHPILRRQRLRYGVYVINQHGEDTFNRAKLLNVGFLEALKEDAAYDCFIFSDVDLVPMDDR
  NLYRCGDQPRHFAIAMDKFGFRLPYAGYFGGVSGLSKAQFLRINGFPNEYWGWGGEDDDIFNRISLTGMKISRPD
  IRIGRYRMIKHDRDKHNEPNPQRFTKIQNTKLTMKRDGIGSVRYQVLEVSRQPLFTNITVDIGRPPSWPPRG

• Structural information:
  • Interpro: IPR003859  IPR027791  IPR027995  IPR029044  
  • STRING: ENSP00000310696
• Other Databases: GeneCards:  B4GALT2  Malacards:  B4GALT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0008378	galactosyltransferase activity	TAS	molecular function
GO:0004461	lactose synthase activity	IEA	molecular function
GO:0003831	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IEA	molecular function
GO:0003945	N-acetyllactosamine synthase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0021680	cerebellar Purkinje cell layer development	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0008542	visual learning	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00510	N-Glycan biosynthesis
hsa00514	Other types of O-glycan biosynthesis
hsa00513	Various types of N-glycan biosynthesis
hsa00052	Galactose metabolism
hsa00601	Glycosphingolipid biosynthesis - lacto and neolacto series
hsa00515	Mannose type O-glycan biosynthesis
hsa00533	Glycosaminoglycan biosynthesis - keratan sulfate

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq