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

Summary

Gene Symbol

GCNT2

Aliases

IGNT
Ii blood group
NAGCT1
ULG3
bA360O19.2
bA421M1.1
unassigned linkage group 3

Organism

Homo sapiens (human)

External Links

NCBI Gene

2651

GGDB ID

gg111

HGNC

4204

mRNA

NM_001491

map

6p24

Protein

NP_001482

OMIM

600429

KEGG Gene ID

hsa:2651

PubChem

2651

Alliance of Genome Resources

HGNC:4204

Annotation

Keyword

Alternative splicing
Cataract
Disease variant
Glycoprotein
Glycosyltransferase
Golgi apparatus
Reference proteome
Signal-anchor
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q8N0V5	I-branching enzyme IGNT

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 16 in total

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GO Term	Evidence Code	PMID
glycosaminoglycan biosynthetic process	TAS	8449405
protein glycosylation	IMP	12424189
protein glycosylation	IEA
transforming growth factor beta receptor signaling pathway	IMP	21750175
transforming growth factor beta receptor signaling pathway	IBA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation

macromolecule glycosylation [inference]

protein glycosylation

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

transforming growth factor beta receptor superfamily signaling pathway [inference]

transforming growth factor beta receptor signaling pathway

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

multicellular organismal process [inference]

multicellular organism development

multicellular organismal-level homeostasis [inference]

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

maintenance of lens transparency

developmental process [inference]

anatomical structure development [inference]

multicellular organism development

homeostatic process [inference]

multicellular organismal-level homeostasis [inference]

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

maintenance of lens transparency

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

posttranscriptional regulation of gene expression

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

posttranscriptional regulation of gene expression

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

posttranscriptional regulation of gene expression

regulation of signaling [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of intracellular signal transduction [inference]

regulation of MAPK cascade [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

regulation of ERK1 and ERK2 cascade [inference]

positive regulation of ERK1 and ERK2 cascade

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of locomotion [inference]

positive regulation of locomotion [inference]

positive regulation of cell motility [inference]

positive regulation of cell migration

regulation of cell motility [inference]

regulation of cell migration [inference]

positive regulation of cell migration

positive regulation of cell motility [inference]

positive regulation of cell migration

positive regulation of biological process [inference]

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of locomotion [inference]

positive regulation of cell motility [inference]

positive regulation of cell migration

positive regulation of cellular process [inference]

positive regulation of cell population proliferation

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of cell differentiation [inference]

positive regulation of epithelial to mesenchymal transition

positive regulation of cell adhesion [inference]

positive regulation of cell-cell adhesion [inference]

positive regulation of heterotypic cell-cell adhesion

positive regulation of cell motility [inference]

positive regulation of cell migration

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of epithelial to mesenchymal transition

positive regulation of multicellular organismal process [inference]

positive regulation of epithelial to mesenchymal transition

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell adhesion [inference]

negative regulation of cell-substrate adhesion

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of intracellular signal transduction [inference]

regulation of MAPK cascade [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

regulation of ERK1 and ERK2 cascade [inference]

positive regulation of ERK1 and ERK2 cascade

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of developmental process [inference]

regulation of cell differentiation [inference]

regulation of epithelial to mesenchymal transition [inference]

positive regulation of epithelial to mesenchymal transition

positive regulation of cell differentiation [inference]

positive regulation of epithelial to mesenchymal transition

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of epithelial to mesenchymal transition

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

transforming growth factor beta receptor superfamily signaling pathway [inference]

transforming growth factor beta receptor signaling pathway

regulation of cell communication [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of intracellular signal transduction [inference]

regulation of MAPK cascade [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

regulation of ERK1 and ERK2 cascade [inference]

positive regulation of ERK1 and ERK2 cascade

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction [inference]

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of cell adhesion [inference]

negative regulation of cell adhesion [inference]

negative regulation of cell-substrate adhesion

regulation of cell-substrate adhesion [inference]

negative regulation of cell-substrate adhesion

regulation of cell-cell adhesion [inference]

positive regulation of cell-cell adhesion [inference]

positive regulation of heterotypic cell-cell adhesion

regulation of heterotypic cell-cell adhesion [inference]

positive regulation of heterotypic cell-cell adhesion

positive regulation of cell adhesion [inference]

positive regulation of cell-cell adhesion [inference]

positive regulation of heterotypic cell-cell adhesion

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

posttranscriptional regulation of gene expression

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation

regulation of cell differentiation [inference]

regulation of epithelial to mesenchymal transition [inference]

positive regulation of epithelial to mesenchymal transition

positive regulation of cell differentiation [inference]

positive regulation of epithelial to mesenchymal transition

positive regulation of cellular process [inference]

positive regulation of cell population proliferation

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of MAPK cascade [inference]

positive regulation of ERK1 and ERK2 cascade

positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction

positive regulation of cell differentiation [inference]

positive regulation of epithelial to mesenchymal transition

positive regulation of cell adhesion [inference]

positive regulation of cell-cell adhesion [inference]

positive regulation of heterotypic cell-cell adhesion

positive regulation of cell motility [inference]

positive regulation of cell migration

negative regulation of cellular process [inference]

negative regulation of cell adhesion [inference]

negative regulation of cell-substrate adhesion

regulation of cell motility [inference]

regulation of cell migration [inference]

positive regulation of cell migration

positive regulation of cell motility [inference]

positive regulation of cell migration

regulation of multicellular organismal process [inference]

positive regulation of multicellular organismal process [inference]

positive regulation of epithelial to mesenchymal transition

Displaying **all 3** entries
GO Term	Evidence Code	PMID
Golgi membrane	IEA
Golgi apparatus
membrane	TAS	8449405

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein binding	IPI	28514442 32296183 33961781
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	IMP	12424189
acetylglucosaminyltransferase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

Functional Category

M: Cell wall/membrane/envelope biogenesis
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
transferase activity

GlycoGene Database (GGDB)

GGDB ID

gg111

Gene Symbol

GCNT2

Reactions

Displaying **all 4** entries
Donor	Acceptor	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
UDP-GlcNAc	G60645OK	R	G20942TC	R	11030746
UDP-GlcNAc	G50122MB	R	G57923AB	R	11030746
UDP-GlcNAc	G83513YI	R	G99198JG	R	11030746
UDP-GlcNAc	G64376NF	R	G57923AB	R	11030746

Displaying **all 5** entries
Donor	Acceptor	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
UDP-GlcNAc	G60645OK	R	G20942TC	R	11030746
UDP-GlcNAc	G00058MO	R	G80198LX	R	10092606 12424189 8449405
UDP-GlcNAc	G50122MB	R	G57923AB	R	11030746
UDP-GlcNAc	G83513YI	R	G99198JG	R	11030746 12424189
UDP-GlcNAc	G64376NF	R	G57923AB	R	11030746

Orthologous Gene

Displaying **all 3** entries
Species	Protein	mRNA
Rattus norvegicus	AAR95653	AY435152
Mus musculus	NP_032131	NM_008105
Arabidopsis thaliana	NP_175718	NM_104189

KEGG BRITE Database

Orthology

K00742

Name

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase [EC:2.4.1.150]

References

8449405

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R06189	2.4.1.150	G84034JH	G86445DK

Rhea

RHEA:17413

a β-D-galactosyl-(1→4)-N-acetyl-β-D-glucosaminyl derivative + UDP-N-acetyl-α-D-glucosamine

an N-acetyl-β-D-glucosaminyl-(1→6)-β-D-galactosyl-(1→4)-N-acetyl-β-D-glucosaminyl derivative + H⁺ + UDP

Enzyme

2.4.1.150

PMID

RHEA:54820

a β-D-Gal-(1→4)-β-D-GlcNAc-(1→3)-β-D-Gal-(1→4)-β-D-GlcNAc derivative + UDP-N-acetyl-α-D-glucosamine

a β-D-Gal-(1→4)-β-D-GlcNAc-(1→3)-[β-D-GlcNAc-(1→6)]-β-D-Gal-(1→4)-N-acetyl-β-D-glucosaminyl derivative + H⁺ + UDP

Enzyme

2.4.1.150

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0110242	cataract 13 with adult i phenotype	Alliance of Genome Resources
DOID:83	cataract	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying **all 2** entries
HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000519	Developmental cataract

Displaying 1 entry
Disease ID	Disease Name
OMIM:116700	cataract 13 with adult I phenotype

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000661
Gene Name: glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)

Ortholog

Displaying entries **1 - 10** of 59 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	2650	WB:WBGene00001644
Xenopus tropicalis	2651	Xenbase:XB-GENE-490633
Caenorhabditis elegans	9245	WB:WBGene00001644
Caenorhabditis elegans	14537	WB:WBGene00001644
Mus musculus	14538	Xenbase:XB-GENE-490633	MOUSE09914
Caenorhabditis elegans	51301	WB:WBGene00001644
Caenorhabditis elegans	64043	WB:WBGene00001644
Caenorhabditis elegans	72077	WB:WBGene00001644
Caenorhabditis elegans	140687	WB:WBGene00001644
Xenopus tropicalis	173109	Xenbase:XB-GENE-490633

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements