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Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Identifiers
Symbols GCNT2; ULG3; GCNT2C; GCNT5; IGNT; II; MGC163396; NACGT1; NAGCT1; bA360O19.2; bA421M1.1
External IDs OMIM: 600429 MGI: 1100870 HomoloGene: 41535 GeneCards: GCNT2 Gene
RNA expression pattern
PBB GE GCNT2 211020 at tn.png
PBB GE GCNT2 gnf1h10485 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2651 14538
Ensembl ENSG00000111846 ENSMUSG00000021360
UniProt Q06430 Q6T5E3
RefSeq (mRNA) NM_001491 NM_008105
RefSeq (protein) NP_001482 NP_032131
Location (UCSC) Chr 6:
10.64 - 10.74 Mb		 Chr 13:
40.9 - 40.97 Mb
PubMed search [1] [2]

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. 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. PMID 9915862.  
  3. ^ a b "Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2651.  

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. 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. 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. 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. 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. PMID 15489334.  







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