GCNT2 - glucosaminyl (N-acetyl) transferase 2 (I blood group) Gene

Also Known as II; CCAT; IGNT; ULG3; GCNT5; GCNT2C; NACGT1; NAGCT1; CTRCT13; bA421M1.1; bA360O19.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2651

About GCNT2

Cytogenetic location: 6p24.3-p24.2 Genomic coordinates (GRCh38): 6:10,521,351-10,629,368 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 164 orthologues, 8 paralogues and is associated with 4 phenotypes. Broad expression in prostate (RPKM 6.7), small intestine (RPKM 2.4) and 21 other tissues.

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. [provided by RefSeq, Jul 2008]

GCNT2 Products (4)

mRNA	Protein	Name
NM_001374747.1	NP_001361676.1	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A
NM_001491.3	NP_001482.1	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform B
NM_145649.5	NP_663624.1	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A
NM_145655.4	NP_663630.2	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform C

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	IMP IMP: Inferred from mutant phenotype	12424189	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in maintenance of lens transparency	IMP IMP: Inferred from mutant phenotype	12424189	GOA
involved in negative regulation of cell-substrate adhesion	IMP IMP: Inferred from mutant phenotype	21750175	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	21750175	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	21750175	GOA
involved in positive regulation of epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	21750175	GOA
involved in positive regulation of heterotypic cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	21750175	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	21750175	GOA
involved in post-transcriptional regulation of gene expression	IMP IMP: Inferred from mutant phenotype	21750175	GOA
involved in protein glycosylation	IMP IMP: Inferred from mutant phenotype	12424189	GOA
involved in transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	21750175	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GCNT2 Protein Structure

Branch

0
100
200
300
402 a.a.

Protein Preferred Names	Protein Names
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase	I beta-1,6-N-acetylglucosaminyltransferase

Related Diseases

Diseases	Alias
Cataract 13 With Adult I Phenotype	CTRCT13 Cataract 13, With Adult I Phenotype
Blood Group, I System	I Blood Group System Adult I Phenotype Without Cataract II Ii Blood Group System
Cataract 44	CTRCT44 Total Early-Onset Cataract Cataract 44 And Hypotrichosis Cataract And Hypotrichosis Cataract, Type 44
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Lacrimal Duct Obstruction	Blocked Lacrimal Canaliculus Obstruction Of Lacrimal Canaliculus Obstruction Of Lacrimal Ducts
Muscle Eye Brain Disease	Muscle-Eye-Brain Disease Muscle-Eye-Brain Syndrome Meb Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3 Meb Syndrome Santavuori Congenital Muscular Dystrophy
Hyperferritinemia With Or Without Cataract	Hyperferritinemia-Cataract Syndrome Hhcs Hereditary Hyperferritinemia With Congenital Cataracts Hyperferritinemia, Hereditary, With Congenital Cataracts Bonneau-Beaumont Syndrome HRFTC Hereditary Hyperferritinemia-Cataract Syndrome Cataract-Hyperferritinemia Syndrome Hyperferritinemia Cataract Syndrome Hereditary Hyperferritinemia Cataract Syndrome
Galactosemia Ii	Galactokinase Deficiency Galk Deficiency Galactokinase Deficiency With Cataracts Deficiency Of Galactokinase GALAC2 Galk-D Galactokinase Deficiency Galactosemia Galactosemia 2 Galactosemia Type 2 Hereditary Galactokinase Deficiency Galactokinase Deficiency, Cataract Galactosemias Galk - [Galactokinase Deficiency]
Ayme-Gripp Syndrome	AYGRP Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation Aymé-Gripp Syndrome Fine-Lubinsky Syndrome Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70143	Glucosaminyl (N-acetyl) Transferase 2		/	Unkown
HY-RS05340	GCNT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GCNT2	RGD	RGD:1303198
Macaca mulatta	GCNT2	VGNC	VGNC:83425
Mus musculus	GCNT2	MGD	MGI:1100870
Felis catus	GCNT2	VGNC	VGNC:102432
Others	GCNT2	NCBI