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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 **11 - 15** of 19 in total

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GO Term	Evidence Code	PMID
heart contraction	IEA
glycosaminoglycan biosynthetic process	IDA	12907669
chondrocyte differentiation	IEA
fluid transport	IEA
regulation of blood pressure	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

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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

Displaying entries **81 - 90** of **132** in total

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HPO ID	HPO Term
HP:0002815	Abnormality of the knee
HP:0002823	Abnormal femur morphology
HP:0002857	Genu valgum
HP:0002991	Abnormal fibula morphology
HP:0002992	Abnormal tibia morphology
HP:0003016	Metaphyseal widening
HP:0003026	Short long bone
HP:0003068	Madelung-like forearm deformities
HP:0003105	Protuberances at ends of long bones
HP:0003276	Pelvic bone exostoses

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

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	3772101	FB:FBgn0029175
Callorhinchus milii	103174976		CALMI06700
Latimeria chalumnae	102363354		LATCH19706
Danio rerio	493780	ZFIN:ZDB-GENE-041124-3	DANRE40872
Astyanax mexicanus	103046596		ASTMX15320
Ictalurus punctatus	108271344		ICTPU00780
Electrophorus electricus	113575759		ELEEL14078
Salmo trutta	115167097		SALTR82495
Gadus morhua	115558722		GADMO13348
Oryzias latipes	101163398		ORYLA12344

GlyTouCan

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Other Information

Tools

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Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements