Entity Details

Primary name GCNT2
Entity type gene
Source Source Link

Details

PrimaryID2651
RefseqGeneNG_007469
SymbolGCNT2
Nameglucosaminyl (N-acetyl) transferase 2 (I blood group)
Chromosome6
Location6p24.3-p24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGNT2A_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006486 protein glycosylation
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007275 multicellular organism development
GO:0008109 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity
GO:0008284 positive regulation of cell population proliferation
GO:0008375 acetylglucosaminyltransferase activity
GO:0010608 posttranscriptional regulation of gene expression
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010812 negative regulation of cell-substrate adhesion
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030335 positive regulation of cell migration
GO:0034116 positive regulation of heterotypic cell-cell adhesion
GO:0036438 maintenance of lens transparency
GO:0051897 positive regulation of protein kinase B signaling
GO:0070374 positive regulation of ERK1 and ERK2 cascade

Diseases

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Disease IDSourceNameDescription
116700 OMIMCataract 13, with adult i phenotype (CTRCT13)An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen. The disease is caused by variants affecting the gene represented in this entry.

Interactions

12 interactions