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{{Infobox_gene}}
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'''N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase''' is an [[enzyme]] that in humans is encoded by the ''GCNT2'' [[gene]].<ref name="pmid8449405">{{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 | pmc =  | doi =10.1101/gad.7.3.468 }}</ref><ref name="pmid9915862">{{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 | pmc =  | doi =10.1074/jbc.274.5.3215 }}</ref><ref name="entrez">{{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| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
| HGNCid = 4204
| Symbol = GCNT2
| AltSymbols =; ULG3; GCNT2C; GCNT5; IGNT; II; MGC163396; NACGT1; NAGCT1; bA360O19.2; bA421M1.1
| OMIM = 600429
| ECnumber =
| Homologene = 41535
| MGIid = 1100870
  | GeneAtlas_image1 = PBB_GE_GCNT2_211020_at_tn.png
| GeneAtlas_image2 = PBB_GE_GCNT2_gnf1h10485_at_tn.png
  | Function = {{GNF_GO|id=GO:0008109 |text = N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity}} {{GNF_GO|id=GO:0008375 |text = acetylglucosaminyltransferase activity}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0016757 |text = transferase activity, transferring glycosyl groups}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
  | Process = {{GNF_GO|id=GO:0006024 |text = glycosaminoglycan biosynthetic process}} {{GNF_GO|id=GO:0006493 |text = protein amino acid O-linked glycosylation}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2651
    | Hs_Ensembl = ENSG00000111846
    | Hs_RefseqProtein = NP_001482
    | Hs_RefseqmRNA = NM_001491
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 10636575
    | Hs_GenLoc_end = 10737586
    | Hs_Uniprot = Q06430
    | Mm_EntrezGene = 14538
    | Mm_Ensembl = ENSMUSG00000021360
    | Mm_RefseqmRNA = NM_008105
    | Mm_RefseqProtein = NP_032131
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 13
    | Mm_GenLoc_start = 40898140
    | Mm_GenLoc_end = 40971872
    | Mm_Uniprot = Q6T5E3
  }}
}}
'''Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)''', also known as '''GCNT2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2651| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2651| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Fukuda M, Fukuda MN, Hakomori S |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 |pmid= 438154 |doi=  }}
*{{cite journal  |vauthors=Fukuda M, Fukuda MN, Hakomori S |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 |pmid= 438154 |doi=  }}
*{{cite journal  | author=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=  }}
*{{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  | author=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= }}
*{{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  | author=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 |year= 1993 |pmid= 8449405 |doi= }}
*{{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 }}
*{{cite journal  | author=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=  }}
*{{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}}
*{{cite journal  | author=Sasaki K, Kurata-Miura K, Ujita M, ''et al.'' |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=  }}
*{{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  | author=Olavesen MG, Bentley E, Mason RV, ''et al.'' |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 }}
*{{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 }}
*{{cite journal  | author=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 |year= 1999 |pmid= 9915862 |doi=  }}
*{{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}}
*{{cite journal  | author=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=  }}
*{{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}}
*{{cite journal  | author=Potter KN, Hobby P, Klijn S, ''et al.'' |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=  }}
*{{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}}
*{{cite journal  | author=Yu LC, Twu YC, Chou ML, ''et al.'' |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 }}
*{{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 |display-authors=etal}}
*{{cite journal  | author=Inaba N, Hiruma T, Togayachi A, ''et al.'' |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 }}
*{{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  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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}}
*{{cite journal  | author=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 }}
*{{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}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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 }}
*{{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}}
*{{cite journal  | author=Pras E, Raz J, Yahalom V, ''et al.'' |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=  }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
}}
}}
{{refend}}
{{refend}}


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Revision as of 08:42, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. ↑ 3.0 3.1 "Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)".

Further reading



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