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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 **6 - 10** of 14 in total

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GO Term	Evidence Code	PMID
transforming growth factor beta receptor signaling pathway	IBA IMP	21750175
glycosaminoglycan biosynthetic process	TAS	8449405
protein glycosylation	IEA IMP	12424189
post-transcriptional regulation of gene expression	IMP	21750175
multicellular organism development	TAS	9134435

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
membrane	TAS	8449405
Golgi apparatus	IDA
Golgi membrane	IEA

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	G64376NF	R	G57923AB	R	11030746
UDP-GlcNAc	G83513YI	R	G99198JG	R	11030746
UDP-GlcNAc	G50122MB	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	G64376NF	R	G57923AB	R	11030746
UDP-GlcNAc	G83513YI	R	G99198JG	R	11030746 12424189
UDP-GlcNAc	G50122MB	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: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

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

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 47 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	14538		MGI:1100870	MOUSE09914
Caenorhabditis elegans	172446		WB:WBGene00001643
Caenorhabditis elegans	172447		WB:WBGene00001644
Caenorhabditis elegans	173108		WB:WBGene00001642
Caenorhabditis elegans	173109		WB:WBGene00001641
Caenorhabditis elegans	173114		WB:WBGene00001640
Rattus norvegicus	306860		RGD:1303198	RATNO13186
Xenopus laevis	432177		Xenbase:XB-GENE-17338604
Xenopus laevis	432275		Xenbase:XB-GENE-865984
Pan troglodytes	462428	9598_0:001eb2		PANTR37210

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements