GCNT2

From Wikipedia, the free encyclopedia

Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)

Identifiers

GCNT2; ULG3; GCNT2C; GCNT5; IGNT; II; MGC163396; NACGT1; NAGCT1; bA360O19.2; bA421M1.1

External IDs

OMIM: 600429 MGI: 1100870 HomoloGene: 41535

Gene ontology
Molecular Function:	• N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity • acetylglucosaminyltransferase activity • transferase activity • transferase activity, transferring glycosyl groups
Cellular Component:	• membrane fraction • Golgi apparatus • membrane • integral to membrane
Biological Process:	• glycosaminoglycan biosynthetic process • protein amino acid O-linked glycosylation • multicellular organismal development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001491 (mRNA)
NP_001482 (protein)

NM_008105 (mRNA)
NP_032131 (protein)

Location

Chr 6: 10.64 - 10.74 Mb

Chr 13: 40.9 - 40.97 Mb

Pubmed search

[1]

[2]

Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group), also known as GCNT2, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group).

[edit] 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. 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. PMID 7579796.
Bierhuizen MF, Mattei MG, Fukuda M (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.
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. 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. 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.
Yeh JC, Ong E, Fukuda M (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.
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. 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. 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.