GCNT2

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

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
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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]