• Gene id: 148789

Gene Summary

• Gene Symbol: B3GALNT2   Gene   UCSC   Ensembl
• Aliases: B3GalNAc-T2, MDDGA11
• Gene name: beta-1,3-N-acetylgalactosaminyltransferase 2
• Alternate names: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2, UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2, beta-1,3-GalNAc-T2,
• Gene location: 1q42.3 (76213823: 76158736)     Exons: 12     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been
• OMIM: 610194

Protein Summary

• Protein general information: Q8NCR0  
  • Name: UDP GalNAc:beta 1,3 N acetylgalactosaminyltransferase 2 (Beta 1,3 GalNAc T2) (EC 2.4.1.313) (Beta 1,3 N acetylgalactosaminyltransferase II)
  • Length: 500  
  • Mass: 56704
  • Tissue specificity: Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle and ovary. {ECO
• Sequence:

  MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWM
  RHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITNPVLNQEIEAFSLSEDTSSGLPEDRVVSVSFR
  VLYPIVITSLGVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCGVQVNKLWYKPVEQFILPESFEGTIVW
  ESQDLHGLVSRNLHKVTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTIQEGDALLHNLHSRPQRLIDHI
  RNLHEEDALLKEESSIYDDIVFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDCYIDLEAVFNRIVQKNL
  DGPNFWWGNFRLNWAVDRTGKWQELEYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGEDVSMGIWMAAI
  GPKRYQDSLWLCEKTCETGMLSSPQYSPWELTELWKLKERCGDPCRCQAR

• Structural information:
  • Interpro: IPR002659  
  • STRING: ENSP00000355559
• Other Databases: GeneCards:  B3GALNT2  Malacards:  B3GALNT2

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:0008376	acetylgalactosaminyltransferase activity	IBA	molecular function
GO:0006493	protein O-linked glycosylation	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0008376	acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0006486	protein glycosylation	IMP	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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008376	acetylgalactosaminyltransferase activity	IDA	molecular function
GO:0006493	protein O-linked glycosylation	TAS	biological process
GO:0008376	acetylgalactosaminyltransferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
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