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exostosin glycosyltransferase 2

Summary

Gene Symbol

EXT2

Aliases

Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
SOTV

Organism

Homo sapiens (human)

External Links

NCBI Gene

2132

GGDB ID

gg159

HGNC

3513

mRNA

NM_000401

map

11p12-p11

Protein

NP_000392

OMIM

608210

KEGG Gene ID

hsa:2132

PubChem

2132

Alliance of Genome Resources

HGNC:3513

Annotation

Keyword

3D-structure
Alternative splicing
Disease variant
Disulfide bond
Endoplasmic reticulum
Epilepsy
Glycoprotein
Glycosyltransferase
Golgi apparatus
Hereditary multiple exostoses
Intellectual disability
Manganese
Metal-binding
Reference proteome
Secreted
Signal-anchor
Transmembrane helix
Tumor suppressor

Proteins

Displaying 1 entry
UniProt	Protein Name
Q93063	Exostosin glycosyltransferase 2 Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Heparan sulfate co-polymerase subunit EXT1 Multiple exostoses protein 2

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **16 - 19** of 19 in total

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GO Term	Evidence Code	PMID
gene expression	IEA
polysaccharide biosynthetic process	IDA	12907669
heparin biosynthetic process	IEA
endochondral bone morphogenesis	IEA

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

heparin biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

sulfur compound biosynthetic process [inference]

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

sulfur compound biosynthetic process [inference]

sulfation

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

sulfur compound biosynthetic process [inference]

primary metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

macromolecule metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

sulfur compound biosynthetic process [inference]

sulfation

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

heparin biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

sulfur compound biosynthetic process [inference]

cellular developmental process [inference]

cell differentiation [inference]

chondrocyte differentiation

multicellular organismal process [inference]

ossification

system process [inference]

circulatory system process [inference]

heart process [inference]

heart contraction

vascular process in circulatory system [inference]

blood vessel diameter maintenance [inference]

vasodilation

multicellular organismal-level homeostasis [inference]

multicellular organismal-level chemical homeostasis [inference]

multicellular organismal-level water homeostasis

developmental process [inference]

anatomical structure morphogenesis [inference]

animal organ morphogenesis [inference]

bone morphogenesis [inference]

endochondral bone morphogenesis

anatomical structure formation involved in morphogenesis [inference]

formation of primary germ layer [inference]

mesoderm formation

cellular developmental process [inference]

cell differentiation [inference]

chondrocyte differentiation

homeostatic process [inference]

multicellular organismal-level homeostasis [inference]

multicellular organismal-level chemical homeostasis [inference]

multicellular organismal-level water homeostasis

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

monoatomic cation homeostasis [inference]

sodium ion homeostasis

inorganic ion homeostasis [inference]

sodium ion homeostasis

multicellular organismal-level chemical homeostasis [inference]

multicellular organismal-level water homeostasis

response to stimulus [inference]

response to endogenous stimulus [inference]

response to growth factor [inference]

cellular response to growth factor stimulus [inference]

cellular response to fibroblast growth factor stimulus

response to fibroblast growth factor [inference]

cellular response to fibroblast growth factor stimulus

cellular response to endogenous stimulus [inference]

cellular response to growth factor stimulus [inference]

cellular response to fibroblast growth factor stimulus

localization [inference]

establishment of localization [inference]

transport [inference]

fluid transport

biological regulation [inference]

regulation of biological quality [inference]

regulation of blood pressure

regulation of body fluid levels [inference]

multicellular organismal-level water homeostasis

regulation of anatomical structure size [inference]

regulation of tube size [inference]

regulation of tube diameter [inference]

blood vessel diameter maintenance [inference]

vasodilation

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GO Term	Evidence Code	PMID
UDP-N-acetylglucosamine transferase complex	IDA	12907669
endoplasmic reticulum	IDA ISS	10679296
catalytic complex	IDA	10679296 36593275
membrane	HDA	19946888
Golgi apparatus	IBA IDA ISS	10679296

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

UDP-N-acetylglucosamine transferase complex

endoplasmic reticulum protein-containing complex [inference]

UDP-N-acetylglucosamine transferase complex

catalytic complex

UDP-N-acetylglucosamine transferase complex

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
glycosyltransferase activity	IBA IDA	12907669
heparan sulfate N-acetylglucosaminyltransferase activity	NAS	12907669
protein homodimerization activity	IDA	12907669
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA	36593275
metal ion binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity

glucuronosyltransferase activity

N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity

glucuronosyltransferase activity

N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

binding [inference]

protein binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

GlycoGene Database (GGDB)

GGDB ID

gg159

Gene Symbol

EXT2

Reactions

Displaying **all 4** entries
Donor	Acceptor	Reference
UDP-GalNAc	G14371GV	12907685
UDP-GalNAc	G99041PQ	12907685
UDP-GlcUA	G14371GV	12907685
UDP-GlcUA	G99041PQ	12907685

Displaying **all 4** entries
Donor	Acceptor	Reference
UDP-GlcUA	G14371GV	12907685
UDP-GalNAc	G14371GV	12907685
UDP-GalNAc	G99041PQ	12907685
UDP-GlcUA	G99041PQ	12907685

Orthologous Gene

Displaying **all 3** entries
Species	Protein	mRNA
Rattus norvegicus	XP_230303	XM_230303
Drosophila melanogaster	NP_788368	NM_176188
Mus musculus	NP_034293	NM_010163

KEGG BRITE Database

Orthology

K02367

Name

glucuronyl/N-acetylglucosaminyl transferase EXT2 [EC:2.4.1.224 2.4.1.225]

References

9756849

Reactions

Displaying **all 2** entries
KEGG Reaction	Enzyme	Acceptor	Product
R10138	2.4.1.225	G18844FT	G70244WB
R05935	2.4.1.225	G13581JW	G74553IH

Rhea

RHEA:16213

UDP-N-acetyl-α-D-glucosamine

H⁺ + UDP

Enzyme

2.4.1.224

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0050328	congenital hypothyroidism	DisGeNET
DOID:0050699	Dent disease	DisGeNET
DOID:0060221	Maffucci syndrome	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060285	parietal foramina	DisGeNET
DOID:0060467	humeroradial synostosis	DisGeNET
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	DisGeNET
DOID:0060847	Leri-Weill dyschondrosteosis	DisGeNET
DOID:0080001	bone disease	DisGeNET
DOID:0080087	nonsyndromic congenital nail disorder 9	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0006385	Short lower limbs
HP:0006487	Bowing of the long bones
HP:0006765	Chondrosarcoma
HP:0008070	Sparse hair
HP:0008443	Neuropathic spinal arthropathy
HP:0008800	Limited hip movement
HP:0009821	Forearm undergrowth
HP:0009826	Limb undergrowth
HP:0010049	Short metacarpal
HP:0010501	Limitation of knee mobility

Displaying **all 5** entries
Disease ID	Disease Name
ORPHA:321	hereditary multiple osteochondromas
ORPHA:52022	Potocki-Shaffer syndrome
OMIM:616682	seizures-scoliosis-macrocephaly syndrome
OMIM:133701	exostoses, multiple, type 2
ORPHA:466926	seizures-scoliosis-macrocephaly syndrome

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **31 - 40** of 80 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Balaenoptera musculus	118899308		BALMU09138
Loxodonta africana	100656016		LOXAF12404
Equus caballus	100055879		HORSE06371
Sus scrofa	100522362		PIGXX17381
Bos taurus	281151		BOVIN07457
Capra hircus	102182243		CAPHI05385
Ovis aries	101110867		SHEEP06610
Dipodomys ordii	105996073		DIPOR17304
Cricetulus griseus	100751585		CRIGR17142
Mus musculus	14043	MGI:108050	MOUSE33620

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Tools

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Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements