GCNT2 Chromosome 6
Glucosaminyl (N-acetyl) transferase 2 (I blood group)
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What This Gene Does
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]
Gene Info
Gene Group
"Glucosaminyl (N-acetyl) transferases/xylosyltransferases|Blood group antigens"
Locus Type
gene with protein product
Location
6p24.3-p24.2
Ensembl
ENSG00000111846
Associated Conditions (6)
Blood group
I system
Cataract 13 with adult I phenotype
GCNT2-related disorder
Developmental cataract
ADULT i BLOOD GROUP PHENOTYPE
Key Variants
RS17637756
Conflicting classifications of pathogenicity
Blood group, I system, Cataract 13 with adult I phenotype
Health Risk
RS55940927
Conflicting classifications of pathogenicity
Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
Health Risk
RS568547927
Conflicting classifications of pathogenicity
Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
Health Risk
RS78667015
Conflicting classifications of pathogenicity
Blood group, I system, Blood group
Health Risk
RS1114167314
Likely pathogenic
Developmental cataract, Developmental cataract
Health Risk
RS1114167313
Pathogenic
Developmental cataract, Developmental cataract
Health Risk
RS1184095219
Pathogenic
Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
Health Risk
RS137853339
Pathogenic
ADULT i BLOOD GROUP PHENOTYPE, ADULT i BLOOD GROUP PHENOTYPE
Health Risk
RS137853340
Pathogenic
ADULT i BLOOD GROUP PHENOTYPE, ADULT i BLOOD GROUP PHENOTYPE
Health Risk
RS185805779
Pathogenic
Cataract 13 with adult I phenotype, GCNT2-related disorder, Cataract 13 with adult I phenotype
Health Risk
RS2127444957
Pathogenic
Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
Health Risk
RS56141211
Pathogenic
Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS17637756 | Health Risk | Conflicting classifications of pathogenicity | Blood group, I system, Cataract 13 with adult I phenotype |
| RS55940927 | Health Risk | Conflicting classifications of pathogenicity | Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype |
| RS568547927 | Health Risk | Conflicting classifications of pathogenicity | Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype |
| RS78667015 | Health Risk | Conflicting classifications of pathogenicity | Blood group, I system, Blood group |
| RS1114167314 | Health Risk | Likely pathogenic | Developmental cataract, Developmental cataract |
| RS1114167313 | Health Risk | Pathogenic | Developmental cataract, Developmental cataract |
| RS1184095219 | Health Risk | Pathogenic | Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype |
| RS137853339 | Health Risk | Pathogenic | ADULT i BLOOD GROUP PHENOTYPE, ADULT i BLOOD GROUP PHENOTYPE |
| RS137853340 | Health Risk | Pathogenic | ADULT i BLOOD GROUP PHENOTYPE, ADULT i BLOOD GROUP PHENOTYPE |
| RS185805779 | Health Risk | Pathogenic | Cataract 13 with adult I phenotype, GCNT2-related disorder, Cataract 13 with adult I phenotype |
| RS2127444957 | Health Risk | Pathogenic | Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype |
| RS56141211 | Health Risk | Pathogenic | Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype |
| RS756999080 | Health Risk | Pathogenic | Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype |
| RS949335475 | Health Risk | Pathogenic | Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype |
| RS148284531 | Health Risk | Pathogenic/Likely pathogenic | Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype |