LMPD Database

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LMP000661

UniProt Annotations

Entry Information
Gene Nameglucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Protein EntryGNT2C_HUMAN
UniProt IDQ8NFS9
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Comment=Isoforms A, B and C have different exons 1, but identical exons 2 and 3.; Name=B; Synonyms=IGNTB, IGNT2; IsoId=Q06430-1; Sequence=Displayed; Note=Expressed in lens epithelium cells.; Name=A; Synonyms=IGNTA, IGNT1; IsoId=Q8N0V5-1; Sequence=External; Name=C; Synonyms=IGNTC, IGNT3; IsoId=Q8NFS9-1; Sequence=External; Note=Expressed in reticulocytes. This isoform determines the expression of the blood group I antigen in erythrocytes.;
Catalytic ActivityUDP-N-acetyl-D-glucosamine + beta-D- galactosyl-1,4-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D- glucosaminyl-1,6-beta-D-galactosyl-1,4-N-acetyl-D-glucosaminyl-R.
Developmental StageIts expression increases dramatically during development and oncogenesis.
FunctionBranching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells. The expression of the blood group I antigen in erythrocytes is determined by isoform C.
PathwayProtein modification; protein glycosylation.
PolymorphismGCNT2 is involved in determining the blood group I system (Ii) [MIM
SimilarityBelongs to the glycosyltransferase 14 family.
Subcellular LocationGolgi apparatus membrane; Single-pass type II membrane protein.
Tissue SpecificityIn the adult, highly expressed in prostate and to a lesser extent in small intestine and colon. Barely detected in heart, brain, kidney and pancreas. No expression in placenta, lung, liver, skeletal muscle, spleen, thymus, testis, ovary and peripheral blood leukocytes. In fetus, highly expressed in brain and to a lesser extent in lung and kidney. Barely detected in liver.
Web ResourceName=Functional Glycomics Gateway - GTase; Note=N- acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_548";
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GCNT2";