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

Last updated October 14, 2022

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]

Related Research Articles

Terminal deoxynucleotidyl transferase (TdT), also known as DNA nucleotidylexotransferase (DNTT) or terminal transferase, is a specialized DNA polymerase expressed in immature, pre-B, pre-T lymphoid cells, and acute lymphoblastic leukemia/lymphoma cells. TdT adds N-nucleotides to the V, D, and J exons of the TCR and BCR genes during antibody gene recombination, enabling the phenomenon of junctional diversity. In humans, terminal transferase is encoded by the DNTT gene. As a member of the X family of DNA polymerase enzymes, it works in conjunction with polymerase λ and polymerase μ, both of which belong to the same X family of polymerase enzymes. The diversity introduced by TdT has played an important role in the evolution of the vertebrate immune system, significantly increasing the variety of antigen receptors that a cell is equipped with to fight pathogens. Studies using TdT knockout mice have found drastic reductions (10-fold) in T-cell receptor (TCR) diversity compared with that of normal, or wild-type, systems. The greater diversity of TCRs that an organism is equipped with leads to greater resistance to infection. Although TdT was one of the first DNA polymerases identified in mammals in 1960, it remains one of the least understood of all DNA polymerases. In 2016–18, TdT was discovered to demonstrate in trans template dependant behaviour in addition to its more broadly known template independent behaviour

Leukosialin also known as sialophorin or CD43 is a transmembrane cell surface protein that in humans is encoded by the SPN (sialophorin) gene.

<span class="mw-page-title-main">Ii antigen system</span> Human blood group system

The Ii antigen system is a human blood group system based upon a gene on chromosome 6 and consisting of the I antigen and the i antigen. The I antigen is normally present on the cell membrane of red blood cells in all adults, while the i antigen is present in fetuses and newborns.

Blood group Rh(CE) polypeptide is a protein that in humans is encoded by the RHCE gene. RHCE has also recently been designated CD240CE.

CD177 antigen is a protein that in humans is encoded by the CD177 gene.

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A is the catalytic subunit of the phosphatidylinositol N-acetylglucosaminyltransferase enzyme, which in humans is encoded by the PIGA gene.

Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the GCNT1 gene.

Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the MGAT3 gene.

Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A is an enzyme that in humans is encoded by the MGAT5 gene.

CD109 is a human gene.

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 is an enzyme that in humans is encoded by the B3GNT2 gene.

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 is an enzyme that in humans is encoded by the B3GNT3 gene.

Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the MGAT1 gene.

Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the MGAT2 gene.

CD79b molecule, immunoglobulin-associated beta, also known as CD79B, is a human gene.

Histo-blood group ABO system transferase is an enzyme with glycosyltransferase activity, which is encoded by the ABO gene in humans. It is ubiquitously expressed in many tissues and cell types. ABO determines the ABO blood group of an individual by modifying the oligosaccharides on cell surface glycoproteins. Variations in the sequence of the protein between individuals determine the type of modification and the blood group. The ABO gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.

Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B is an enzyme that in humans is encoded by the MGAT5B gene.

Phosphatidylinositol N-acetylglucosaminyltransferase subunit H is an enzyme that in humans is encoded by the PIGH gene. The PIGH gene is located on the reverse strand of chromosome 14 in humans, and is neighbored by TMEM229B.

GDP-L-fucose synthetase is an enzyme that in humans is encoded by the TSTA3 gene.

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase is an enzyme that, in humans, is encoded by the B3GNT1 gene.

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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GCNT2

Related Research Articles

References

Further reading