Home > Gene Browser > GCNT2

GCNT2

Synonyms
CCAT, CTRCT13, GCNT2C, GCNT5, IGNT, II, NACGT1, NAGCT1, ULG3, bA360O19.2, bA421M1.1
External resources
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
146
Likely pathogenic
0
VUS
985
Likely benign
429
Benign
14

Patient phenotypes

Proportions of phenotypes among 144 patients carring pathogenic or likely pathogenic variants on GCNT2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.5%
Abnormality of the musculoskeletal system
49.3%
Abnormality of head or neck
38.9%
Abnormality of the integument
23.6%
Abnormality of the eye
22.9%
Growth abnormality
22.9%
Abnormality of limbs
22.2%
Abnormality of the cardiovascular system
19.4%
Abnormality of the ear
18.8%
Abnormality of the digestive system
18.1%
Abnormality of the genitourinary system
12.5%
Abnormality of the respiratory system
11.8%
Abnormality of prenatal development or birth
9.7%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of the immune system
8.3%
Abnormality of the endocrine system
4.2%
Abnormality of the breast
2.8%
Neoplasm
2.1%
Abnormal cellular phenotype
0.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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