Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme

Alternative Names

GCNT2
Beta-1,6-N-Acetylglucosaminyltransferase 2
Developmental I Antigen
I-Beta-1,6-N-Acetylglucosaminyltransferase
IGNT

Length

108,018 bases

No. of Exons

No. of isoforms

Protein Name

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase

Molecular Mass

45873 Da

Amino Acid Count

402

Genomic Location

chr6:10,521,351-10,629,368

Gene Map Locus

6p24.3-p24.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_145649.5:c.1025A>G	Saudi Arabia	NC_000006.12:g.10626423A>G	Likely Pathogenic	Pathogenic	Cataract 13 With Adult i Phenotype	NG_007469.3:g.139201A>G; NM_145649.5:c.1025A>G; NP_663624.1:p.Tyr342Cys	786205577	191204
NM_145649.5:c.1046A>G	Saudi Arabia	NC_000006.12:g.10626444A>G	Pathogenic	Pathogenic	Cataract 13 With Adult i Phenotype	NG_007469.3:g.139222A>G; NM_145649.5:c.1046A>G; NP_663624.1:p.Tyr349Cys	148284531	844536

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=GCNT2

Contributors

Sayeeda Hana: 15.02.2023

Edit History

Sayeeda Hana: 15.02.2023
Pratibha Nair: 10.12.2018

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