GCNT2

Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Identifiers
Symbols	GCNT2 ; CCAT; CTRCT13; GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3; bA360O19.2; bA421M1.1
External IDs	OMIM: 600429 MGI: 1100870 HomoloGene: 41535 GeneCards: GCNT2 Gene
EC number	2.4.1.150
Gene ontology Molecular function • N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity Cellular component • Golgi membrane • cellular_component • membrane • integral component of membrane Biological process • glycosaminoglycan biosynthetic process • protein glycosylation • transforming growth factor beta receptor signaling pathway • multicellular organismal development • positive regulation of cell proliferation • posttranscriptional regulation of gene expression • positive regulation of epithelial to mesenchymal transition • negative regulation of cell-substrate adhesion • positive regulation of cell migration • positive regulation of heterotypic cell-cell adhesion • maintenance of lens transparency • positive regulation of protein kinase B signaling • positive regulation of ERK1 and ERK2 cascade Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2651	14538
Ensembl	ENSG00000111846	ENSMUSG00000021360
UniProt	Q06430	P97402
RefSeq (mRNA)	NM_001491	NM_008105
RefSeq (protein)	NP_001482	NP_032131
Location (UCSC)	Chr 6: 10.49 – 10.63 Mb	Chr 13: 40.86 – 40.96 Mb
PubMed search

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase is an enzyme that in humans is encoded by the GCNT2 gene.^[1][2][3]

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-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described.^[3]

References

1. Bierhuizen MF, Mattei MG, Fukuda M (Apr 1993). "Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family". Genes Dev 7 (3): 468–78. doi:10.1101/gad.7.3.468. PMID 8449405.
2. Yeh JC, Ong E, Fukuda M (Mar 1999). "Molecular cloning and expression of a novel beta-1, 6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I branches". J Biol Chem 274 (5): 3215–21. doi:10.1074/jbc.274.5.3215. PMID 9915862.
3. "Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)".

Further reading

• Fukuda M, Fukuda MN, Hakomori S (1979). "Developmental change and genetic defect in the carbohydrate structure of band 3 glycoprotein of human erythrocyte membrane". J. Biol. Chem. 254 (10): 3700–3. PMID 438154.
• Keats B, Ott J, Conneally M (1989). "Report of the committee on linkage and gene order". Cytogenet. Cell Genet. 51 (1–4): 459–502. doi:10.1159/000132805. PMID 2791656.
• Bierhuizen MF, Maemura K, Kudo S, Fukuda M (1995). "Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family". Glycobiology 5 (4): 417–25. doi:10.1093/glycob/5.4.417. PMID 7579796.
• Magnet AD, Fukuda M (1997). "Expression of the large I antigen forming beta-1,6-N-acetylglucosaminyltransferase in various tissues of adult mice". Glycobiology 7 (2): 285–95. doi:10.1093/glycob/7.2.285. PMID 9134435.
• Sasaki K, Kurata-Miura K, Ujita M; et al. (1998). "Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis". Proc. Natl. Acad. Sci. U.S.A. 94 (26): 14294–9. doi:10.1073/pnas.94.26.14294. PMC 24948. PMID 9405606.
• Olavesen MG, Bentley E, Mason RV; et al. (1998). "Fine mapping of 39 ESTs on human chromosome 6p23-p25". Genomics 46 (2): 303–6. doi:10.1006/geno.1997.5032. PMID 9417921.
• Yu LC, Twu YC, Chang CY, Lin M (2002). "Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen". Blood 98 (13): 3840–5. doi:10.1182/blood.V98.13.3840. PMID 11739194.
• Potter KN, Hobby P, Klijn S; et al. (2002). "Evidence for involvement of a hydrophobic patch in framework region 1 of human V4-34-encoded Igs in recognition of the red blood cell I antigen". J. Immunol. 169 (7): 3777–82. doi:10.4049/jimmunol.169.7.3777. PMID 12244172.
• Yu LC, Twu YC, Chou ML; et al. (2003). "The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts". Blood 101 (6): 2081–8. doi:10.1182/blood-2002-09-2693. PMID 12424189.
• Inaba N, Hiruma T, Togayachi A; et al. (2003). "A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression". Blood 101 (7): 2870–6. doi:10.1182/blood-2002-09-2838. PMID 12468428.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Zhang T, Haws P, Wu Q (2004). "Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation". Genome Res. 14 (1): 79–89. doi:10.1101/gr.1225204. PMC 314283. PMID 14672974.
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Pras E, Raz J, Yahalom V; et al. (2004). "A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts". Invest. Ophthalmol. Vis. Sci. 45 (6): 1940–5. doi:10.1167/iovs.03-1117. PMID 15161861.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.