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EXT2 exostosin glycosyltransferase 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000401 Homo sapiens exostosin glycosyltransferase 2 (EXT2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001178083 Homo sapiens exostosin glycosyltransferase 2 (EXT2), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_207122 Homo sapiens exostosin glycosyltransferase 2 (EXT2), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 15

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Gene Symbol EXT2
Entrez Gene ID 2132
Full Name exostosin glycosyltransferase 2
Synonyms SOTV
General protein information
Preferred Names
exostosin-2
Names
exostosin-2
multiple exostoses protein 2
putative tumor suppressor protein EXT2
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
NP_000392.3
NP_001171554.1
NP_997005.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11p12-p11

Summary This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008].
Disorder

MIM: 608210

Exostoses, multiple, type 2, 133701 (3)

mRNA Protein Product Sequence Price Select
NM_000401, 296010872 NP_000392, 296010873 exostosin-2 isoform 1 ORF Sequence $700.00
NM_001178083, 296010874 NP_001171554, 296010875 exostosin-2 isoform 3 ORF Sequence $700.00
NM_207122, 46370068 NP_997005, 46370069 exostosin-2 isoform 2 ORF Sequence $490.00
KEGG
hsa00534Glycosaminoglycan biosynthesis - heparan sulfate / heparin
hsa_M00059Glycosaminoglycan biosynthesis, heparan sulfate backbone
BIOCYC
META_PWY-6558heparan sulfate biosynthesis (late stages)
HUMAN_PWY-6564heparan sulfate biosynthesis
HUMAN_PWY-6558heparan sulfate biosynthesis (late stages)
META_PWY-6564heparan sulfate biosynthesis
Reactome
REACT_474Metabolism of carbohydrates
REACT_111217Metabolism
REACT_147734MPS II - Hunter syndrome
REACT_147749MPS IIID - Sanfilippo syndrome D
REACT_147857MPS I - Hurler syndrome
REACT_147798MPS IV - Morquio syndrome B
REACT_147825MPS IV - Morquio syndrome A
REACT_147719MPS VI - Maroteaux-Lamy syndrome
REACT_147753MPS IIIA - Sanfilippo syndrome A
REACT_147739MPS IX - Natowicz syndrome
REACT_147860MPS IIIC - Sanfilippo syndrome C
REACT_147853Mucopolysaccharidoses
REACT_147788MPS IIIB - Sanfilippo syndrome B
REACT_147759MPS VII - Sly syndrome
REACT_116125Disease
REACT_121315Glycosaminoglycan metabolism
REACT_121314Heparan sulfate/heparin (HS-GAG) metabolism
REACT_121248HS-GAG biosynthesis
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)EXT2NP_001171554.1
Pan troglodytes (chimpanzee)EXT2XP_003313041.1
Macaca mulatta (Rhesus monkey)EXT2XP_001106468.2
Canis lupus familiaris (dog)EXT2XP_005631368.1
Bos taurus (cattle)EXT2NP_803462.2
Mus musculus (house mouse)Ext2NP_034293.2
Rattus norvegicus (Norway rat)Ext2NP_001101221.1
Gallus gallus (chicken)EXT2NP_001026520.1
Danio rerio (zebrafish)ext2NP_001008400.1
Drosophila melanogaster (fruit fly)Ext2NP_725536.1
Xenopus (Silurana) tropicalis (western clawed frog)ext2NP_001120887.1
Process
IDNameEvidence
GO:0001503ossificationIMP
GO:0001707mesoderm formationIEA
GO:0005975carbohydrate metabolic processTAS
GO:0006024glycosaminoglycan biosynthetic processIDA
GO:0006024glycosaminoglycan biosynthetic processTAS
GO:0006486protein glycosylationIEA
GO:0007165signal transductionTAS
GO:0015012heparan sulfate proteoglycan biosynthetic processIMP
GO:0015014heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processIMP
GO:0030154cell differentiationIEA
GO:0030203glycosaminoglycan metabolic processTAS
GO:0033692cellular polysaccharide biosynthetic processIDA
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0000139Golgi membraneTAS
GO:0005783endoplasmic reticulumISS
GO:0005789endoplasmic reticulum membraneTAS
GO:0005794Golgi apparatusISS
GO:0016020membraneIDA
GO:0016021integral component of membraneIEA
GO:0031227intrinsic component of endoplasmic reticulum membraneIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0008375acetylglucosaminyltransferase activityIDA
GO:0015020glucuronosyltransferase activityIDA
GO:0016757transferase activity, transferring glycosyl groupsIDA
GO:0042328heparan sulfate N-acetylglucosaminyltransferase activityNAS
GO:0042803protein homodimerization activityIDA
GO:0046982protein heterodimerization activityIPI
GO:0050508glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityIEA
GO:0050509N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityNAS
GeneCards EXT2
UniProt Q93063
Vega OTTHUMG00000166498
MIM 608210
Ensembl ENSG00000151348
HGNC 3513
HPRD 00599

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the EXT2 gene?

The EXT2 gene provides instructions for producing a protein called exostosin-2. This protein is found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. In the Golgi apparatus, exostosin-2 attaches (binds) to another protein, exostosin-1, to form a complex that modifies a protein called heparan sulfate so it can be used in the body. Heparan sulfate is involved in regulating a variety of body processes including the formation of blood vessels (angiogenesis) and blood clotting. It also has a role in the spreading (metastasis) of cancer cells.

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