GGDB:

EXT2は、exostosin glycosyltransferase 2をコードし、GAGの1種であるヘパラン硫酸およびヘパリンの生合成に関与する。ヘパラン硫酸の主要構造は（GlcNAcα1,4GlcAβ1,4）からなる2糖繰り返し構造であり、GlcNAcの2、3、6位とGlcAやIdoAの2位に硫酸が付加される。EXT1とEXT2は繰り返し構造の伸張反応を担う。EXT2は遺伝性多発性外骨腫症:Hereditary multiple exostoses (HME)の原因遺伝子である。

Keyword: へパラン硫酸 , プロテオグリカン , ヘパリン , 遺伝性多発性外骨腫症

Glucuronyltransferase N-Acetylglucosaminyltransferase

GGDB Symbol

EXT2 Alias

Designation

heparan sulfate GlcA/GlcNAc transferase 2, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase 2

Organism

Homo sapiens

GeneID

2132

HGNC

EXT2 (3513)

mRNA

NM_000401

map

11p12-p11

Protein

NP_000392

EC#

2.4.1.225

CAZy

GT64

GlyCosmos Glycogenes

EXT2

OMIM

608210

Disease name

GDGDB

Human Protein Atlas

ENSG00000151348

Mus musculus

mRNA	NM_010163
Protein	NP_034293
MGI	29453

Rattus norvegicus

mRNA	XM_230303
Protein	XP_230303

Drosophila melanogaster

mRNA	NM_176188
Protein	NP_788368

Proc. Natl. Acad. Sci. U.S.A. 2000-01-01 ;97(2):668-73.

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.

McCormick C. et al. PMID:10639137

Proc. Natl. Acad. Sci. U.S.A. 2003-10-01 ;278(43):41618-23.

In vitro heparan sulfate polymerization: crucial roles of core protein moieties of primer substrates in addition to the EXT1-EXT2 interaction.

Kim BT. et al. PMID:12907685 Refer to: TABLE I

DONOR : UDP-GalNAc UDP-GlcUA

Glc	Man	Gal	GlcNAc	GalNAc	Fuc	Xyl	Neu5Ac	Neu5Gc	GlcA	IdoA	GlcN

Substrate Transferred

	JCGG-STR003511 GlyTouCan: G99041PQ GlyCosmos Glycans: G99041PQ	UDP-GalNAc	EXT1_6

	JCGG-STR027487 GlyTouCan: G14371GV GlyCosmos Glycans: G14371GV	UDP-GlcUA	EXT1_5

Substrate Not Transferred

	EXT1_1

	EXT1_2

	JCGG-STR027487 GlyTouCan: G14371GV GlyCosmos Glycans: G14371GV

	JCGG-STR027487 GlyTouCan: G14371GV GlyCosmos Glycans: G14371GV

	JCGG-STR027487 GlyTouCan: G14371GV GlyCosmos Glycans: G14371GV

	JCGG-STR003511 GlyTouCan: G99041PQ GlyCosmos Glycans: G99041PQ

	EXT1_1

	EXT1_2

	JCGG-STR027487 GlyTouCan: G14371GV GlyCosmos Glycans: G14371GV

	JCGG-STR027487 GlyTouCan: G14371GV GlyCosmos Glycans: G14371GV

	EXT1_1

	EXT1_2

	JCGG-STR027487 GlyTouCan: G14371GV GlyCosmos Glycans: G14371GV

	JCGG-STR027487 GlyTouCan: G14371GV GlyCosmos Glycans: G14371GV

	JCGG-STR027487 GlyTouCan: G14371GV GlyCosmos Glycans: G14371GV

	JCGG-STR003511 GlyTouCan: G99041PQ GlyCosmos Glycans: G99041PQ

table 1
Glycoprotein	Enzyme activity
a-Thrombomodulin coexpression of EXT1 and EXT2	54200
Glypican coexpression of EXT1 and EXT2	28600
Glypican-1	0
a-Thrombomodulin	0
Glypican-1 mixture of EXT1 and EXT2	0
a-Thrombomodulin mixture of EXT1 and EXT2	0

J. Biol. Chem. 1998-10-01 ;273(41):26265-8.

The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate.

Lind T. et al. PMID:9756849

RNA Expression from Human Protein Atlas

This RNA expression data uses "HPA data" from the Human Protein Atlas. Tissue RNA Expression

data available from v22.proteinatlas.org

Proc. Natl. Acad. Sci. U.S.A. 1996-10-01 ;5(10):1547-57.

Positional cloning of a gene involved in hereditary multiple exostoses.

Wuyts W. et al. PMID:8894688

brainheartkidneyliverlungpancreasplacentaskeletal muscle

EXT2

Glucuronyltransferase N-Acetylglucosaminyltransferase

Orthologous Gene

Mus musculus

Rattus norvegicus

Drosophila melanogaster

Acceptor Substrates (Reference)

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.

In vitro heparan sulfate polymerization: crucial roles of core protein moieties of primer substrates in addition to the EXT1-EXT2 interaction.

DONOR : UDP-GalNAc UDP-GlcUA

Substrate Transferred

Substrate Not Transferred

The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate.

Acceptor Substrates (KEM-C)

Expression

Expression (Reference)

Positional cloning of a gene involved in hereditary multiple exostoses.

Gene Ontology