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
Gene location (Human)
Chr.	Chromosome 6 (human)
End	10,629,368 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	41,114,368 bp
RNA expression pattern
	Top expressed in
	left ventricle; ; duodenum; ; prostate; ; stomach; ; kidney; ; body of stomach; ; monocyte; ; endometrium; ; thymus; ; liver;
	Top expressed in
	right lung lobe; ; olfactory epithelium; ; blood; ; ascending aorta; ; aortic valve; ; islet of Langerhans; ; urinary bladder; ; uterus; ; ileum; ; proximal tubule;
	More reference expression data
	; ;
	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
	2651
	14538
	ENSG00000111846; ENSG00000285222
	ENSMUSG00000021360
	Q8N0V5
	P97402
	NM_001491; NM_145649; NM_145655; NM_001374747
	NM_008105; NM_023887; NM_133219
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
	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 2 3 ENSG00000285222 GRCh38: Ensembl release 89: ENSG00000111846, ENSG00000285222 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021360 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)".

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.

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[refGRCh38Ensembl-1] 1 2 3 ENSG00000285222 GRCh38: Ensembl release 89: ENSG00000111846, ENSG00000285222 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid8449405-5] 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.

[pmid9915862-6] 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.

[entrez-7] 1 2 "Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)".

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References

Further reading