GCNT2

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. [provided by RefSeq, Jul 2008]

Description

Glucosaminyl (N-acetyl) transferase 2 (I blood group)

Tissue specificity

Tissue enhanced (prostate)

Subcell location

Golgi apparatus

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

6 (10492223 - 10629368)

Ensembl ID

ENSG00000111846  (ver. 103.38)

Orthologs

Mouse Gcnt2: ENSMUSG00000021360

UniProt

Q8N0V5

neXtProt

NX_Q8N0V5

Human splice variants
Mouse splice variants

Protein structure