GCNT2

GCNT2
Identifiers
Aliases	GCNT2, CCAT, CTRCT13, GCNT2C, GCNT5, IGNT, II, NACGT1, NAGCT1, ULG3, bA360O19.2, bA421M1.1, glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group), glucosaminyl (N-acetyl) transferase 2 (I blood group)
External IDs	OMIM: 600429; MGI: 1100870; HomoloGene: 41535; GeneCards: GCNT2; OMA:GCNT2 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p24.3-p24.2 Start 10,492,223 bp[1] End 10,629,368 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 A3.3|13 20.12 cM Start 41,013,230 bp[2] End 41,114,368 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad left ventricle testicle apex of heart duodenum mucosa of transverse colon prostate stomach human kidney body of stomach Top expressed in lumbar spinal ganglion granulocyte right lung lobe olfactory epithelium blood ascending aorta dorsal striatum aortic valve islet of Langerhans tail of embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity glycosyltransferase activity acetylglucosaminyltransferase activity N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity Cellular component integral component of membrane Golgi membrane membrane cellular component Golgi apparatus Biological process negative regulation of cell-substrate adhesion maintenance of lens transparency positive regulation of heterotypic cell-cell adhesion positive regulation of cell migration glycosaminoglycan biosynthetic process multicellular organism development protein glycosylation transforming growth factor beta receptor signaling pathway positive regulation of cell population proliferation posttranscriptional regulation of gene expression positive regulation of epithelial to mesenchymal transition positive regulation of protein kinase B signaling positive regulation of ERK1 and ERK2 cascade Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2651 14538 Ensembl ENSG00000111846 ENSG00000285222 ENSMUSG00000021360 UniProt Q8N0V5 P97402 RefSeq (mRNA) NM_001491 NM_145649 NM_145655 NM_001374747 NM_008105 NM_023887 NM_133219 RefSeq (protein) NP_663624.1 NP_001482.1 NP_663630.2 NP_001482 NP_663624 NP_663630 NP_001361676 NP_001482.1 NP_663630.2 NP_663624.1 NP_032131 NP_076376 NP_573482 Location (UCSC) Chr 6: 10.49 – 10.63 Mb Chr 13: 41.01 – 41.11 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase is an enzyme that in humans is encoded by the GCNT2 gene.[5][6][7]

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.[7]

References

1. ENSG00000285222 GRCh38: Ensembl release 89: ENSG00000111846, ENSG00000285222 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021360 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "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. doi:10.1016/S0021-9258(18)50640-2. 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. Bibcode:2002PNAS...9916899M. 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.