GCNT2
{{short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase is an enzyme that in humans is encoded by the GCNT2 gene.{{cite journal |vauthors=Bierhuizen MF, Mattei MG, Fukuda M | title = Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family | journal = Genes Dev | volume = 7 | issue = 3 | pages = 468–78 |date=Apr 1993 | pmid = 8449405 | doi =10.1101/gad.7.3.468 | doi-access = free }}{{cite journal |vauthors=Yeh JC, Ong E, Fukuda M | title = Molecular cloning and expression of a novel beta-1, 6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I branches | journal = J Biol Chem | volume = 274 | issue = 5 | pages = 3215–21 |date=Mar 1999 | pmid = 9915862 | doi =10.1074/jbc.274.5.3215 | doi-access = free }}{{cite web | title = Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2651}}
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.
References
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Further reading
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- {{cite journal |vauthors=Fukuda M, Fukuda MN, Hakomori S|author-link3=Sen-itiroh Hakomori |title=Developmental change and genetic defect in the carbohydrate structure of band 3 glycoprotein of human erythrocyte membrane |journal=J. Biol. Chem. |volume=254 |issue= 10 |pages= 3700–3 |year= 1979 |doi=10.1016/S0021-9258(18)50640-2 |pmid= 438154 |doi-access=free }}
- {{cite journal |vauthors=Keats B, Ott J, Conneally M |title=Report of the committee on linkage and gene order |journal=Cytogenet. Cell Genet. |volume=51 |issue= 1–4 |pages= 459–502 |year= 1989 |pmid= 2791656 |doi=10.1159/000132805 }}
- {{cite journal |vauthors=Bierhuizen MF, Maemura K, Kudo S, Fukuda M |title=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 |journal=Glycobiology |volume=5 |issue= 4 |pages= 417–25 |year= 1995 |pmid= 7579796 |doi=10.1093/glycob/5.4.417 }}
- {{cite journal |vauthors=Magnet AD, Fukuda M |title=Expression of the large I antigen forming beta-1,6-N-acetylglucosaminyltransferase in various tissues of adult mice |journal=Glycobiology |volume=7 |issue= 2 |pages= 285–95 |year= 1997 |pmid= 9134435 |doi=10.1093/glycob/7.2.285 |doi-access=free }}
- {{cite journal |vauthors=Sasaki K, Kurata-Miura K, Ujita M |title=Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 26 |pages= 14294–9 |year= 1998 |pmid= 9405606 |doi=10.1073/pnas.94.26.14294 | pmc=24948 |display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Olavesen MG, Bentley E, Mason RV |title=Fine mapping of 39 ESTs on human chromosome 6p23-p25 |journal=Genomics |volume=46 |issue= 2 |pages= 303–6 |year= 1998 |pmid= 9417921 |doi= 10.1006/geno.1997.5032 |display-authors=etal}}
- {{cite journal |vauthors=Yu LC, Twu YC, Chang CY, Lin M |title=Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen |journal=Blood |volume=98 |issue= 13 |pages= 3840–5 |year= 2002 |pmid= 11739194 |doi=10.1182/blood.V98.13.3840 |doi-access=free }}
- {{cite journal |vauthors=Potter KN, Hobby P, Klijn S |title=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 |journal=J. Immunol. |volume=169 |issue= 7 |pages= 3777–82 |year= 2002 |pmid= 12244172 |doi= 10.4049/jimmunol.169.7.3777|display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Yu LC, Twu YC, Chou ML |title=The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts |journal=Blood |volume=101 |issue= 6 |pages= 2081–8 |year= 2003 |pmid= 12424189 |doi= 10.1182/blood-2002-09-2693 |display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Inaba N, Hiruma T, Togayachi A |title=A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression |journal=Blood |volume=101 |issue= 7 |pages= 2870–6 |year= 2003 |pmid= 12468428 |doi= 10.1182/blood-2002-09-2838 |display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Zhang T, Haws P, Wu Q |title=Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation |journal=Genome Res. |volume=14 |issue= 1 |pages= 79–89 |year= 2004 |pmid= 14672974 |doi= 10.1101/gr.1225204 | pmc=314283 }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Pras E, Raz J, Yahalom V |title=A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 6 |pages= 1940–5 |year= 2004 |pmid= 15161861 |doi=10.1167/iovs.03-1117 |display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
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