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

Homo sapiens

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

Gene ID: 2651 | Gene type: protein coding

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	Reference	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	Reference	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

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 Sets	/	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

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