Gene: GCNT2

Alternate names for this Gene: CCAT|CTRCT13|GCNT2C|GCNT5|IGNT|II|NACGT1|NAGCT1|ULG3|bA360O19.2|bA421M1.1

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.3-p24.2

Description of this Gene: glucosaminyl (N-acetyl) transferase 2 (I blood group)

Type of Gene: protein-coding

rs56141211 in GCNT2 gene and CATARACT 13 WITH ADULT i PHENOTYPE PMID 11739194 2001 Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen.

rs191578361 in GCNT2 gene and Lean body mass PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs605783 in GCNT2 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs605783 in GCNT2 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.