GCNT2 Back

glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)

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NCBI Description of 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.

Community Annotation of GCNT2 Add / Edit GCNT2: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

GCNT2 is highly significantly mutated in
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GCNT2 is significantly mutated in
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GCNT2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for GCNT2