• Gene id: 2651

Gene Summary

• Gene Symbol: GCNT2   Gene   UCSC   Ensembl
• Aliases: CCAT, CTRCT13, GCNT2C, GCNT5, IGNT, II, NACGT1, NAGCT1, ULG3, bA360O19.2, bA421M1.1
• Gene name: glucosaminyl (N-acetyl) transferase 2 (I blood group)
• Alternate names: N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, I beta-1,6-N-acetylglucosaminyltransferase, Ii blood group, beta-1,6-N-acetylglucosaminyltransferase 2, glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),
• Gene location: 6p24.3-p24.2 (10521282: 10629367)     Exons: 12     NC_000006.12
• Gene summary(Entrez): This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-a
• OMIM: 600429

Protein Summary

• Protein general information: Q8N0V5  
  • Name: N acetyllactosaminide beta 1,6 N acetylglucosaminyl transferase (N acetylglucosaminyltransferase) (EC 2.4.1.150) (I branching enzyme) (IGNT)
  • Length: 402  
  • Mass: 45873
  • Tissue specificity: Isoform B is expressed in lens epithelium cells. Isoform C is expressed in reticulocytes. {ECO
• Sequence:

  MMGSWKHCLFSASLISALIFVFVYNTELWENKRFLRAALSNASLLAEACHQIFEGKVFYPTENALKTTLDEATCY
  EYMVRSHYVTETLSEEEAGFPLAYTVTIHKDFGTFERLFRAIYMPQNVYCVHLDQKATDAFKGAVKQLLSCFPNA
  FLASKKESVVYGGISRLQADLNCLEDLVASEVPWKYVINTCGQDFPLKTNREIVQYLKGFKGKNITPGVLPPDHA
  VGRTKYVHQELLNHKNSYVIKTTKLKTPPPHDMVIYFGTAYVALTRDFANFVLQDQLALDLLSWSKDTYSPDEHF
  WVTLNRIPGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNSPSLFANKFELNTYPL
  TVECLELRHRERTLNQSETAIQPSWYF

• Structural information:
  • Interpro: IPR003406  
  • STRING: ENSP00000368917
• Other Databases: GeneCards:  GCNT2  Malacards:  GCNT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
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:0008109	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0008109	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0034116	positive regulation of heterotypic cell-cell adhesion	IMP	biological process
GO:0010812	negative regulation of cell-substrate adhesion	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	ISS	biological process
GO:0008109	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	IMP	molecular function
GO:0006486	protein glycosylation	IMP	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0010608	posttranscriptional regulation of gene expression	IMP	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0036438	maintenance of lens transparency	IMP	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Cataract	KEGG:H01202
Cataract	PMID:15161861
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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray