Protein Description

Gene Symbol EXT2
Entrez ID 2132
Uniprot ID Q93063
Description exostosin glycosyltransferase 2
Chromosomal Location chr11: 44,095,549-44,245,429
Ontology GO ID GO Term Definition Evidence

BP

GO:0001503

ossification

The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.

IMP

BP

GO:0001707

mesoderm formation

The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts.

IEA

BP

GO:0006024

glycosaminoglycan biosynthetic process

The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars.

IDA|TAS

BP

GO:0006486

protein glycosylation

A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.

IEA

BP

GO:0007165

signal transduction

The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

TAS

BP

GO:0015012

heparan sulfate proteoglycan biosynthetic process

The chemical reactions and pathways resulting in the formation of the heparan sulfate proteoglycan, a glycosaminoglycan with repeat unit consisting of alternating alpha-(1->4)-linked hexuronic acid and glucosamine residues; the former are a mixture of sulfated and nonsulfated D-glucuronic acid and L-iduronic acid; the L-iduronic acid is either sulfated or acetylated on its amino group as well as being sulfated on one of its hydroxyl groups; heparan sulfate chains are covalently linked to peptidyl-serine by a glycosidic attachment through the trisaccharide galactosyl-galactosyl-xylosyl to serine residues.

IMP

BP

GO:0015014

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

The chemical reactions and pathways resulting in the formation of polysaccharide chain component of heparan sulfate proteoglycan.

IMP

BP

GO:0030154

cell differentiation

The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.

IEA

BP

GO:0033692

cellular polysaccharide biosynthetic process

The chemical reactions and pathways resulting in the formation of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, occurring at the level of an individual cell.

IDA

CC

GO:0000139

Golgi membrane

The lipid bilayer surrounding any of the compartments of the Golgi apparatus.

TAS

CC

GO:0005783

endoplasmic reticulum

The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).

ISS

CC

GO:0005789

endoplasmic reticulum membrane

The lipid bilayer surrounding the endoplasmic reticulum.

TAS

CC

GO:0005794

Golgi apparatus

A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions.

ISS

CC

GO:0016020

membrane

A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

IDA

CC

GO:0016021

integral component of membrane

The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

IEA

CC

GO:0043541

UDP-N-acetylglucosamine transferase complex

A multienzyme, heterooligomeric complex involved in dolichyl-linked oligosaccharide synthesis. In yeast the complex is composed of Alg7p, which catalyzes the first step (GlcNAc1-PP-Dol from dolichol-phosphate and UDP-GlcNAc), and Alg13p plus Alg14p, the catalytic and anchoring subunits respectively, which together catalyze the second step (GlcNAc2-PP-dolichol from GlcNAc1-PP-Dol and UDP-GlcNAc) of dolichyl-linked oligosaccharide synthesis.

IDA

CC

GO:0070062

extracellular exosome

A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

IDA

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0008375

acetylglucosaminyltransferase activity

Catalysis of the transfer of an N-acetylglucosaminyl residue from UDP-N-acetyl-glucosamine to a sugar.

IDA

MF

GO:0015020

glucuronosyltransferase activity

Catalysis of the reaction: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.

IDA

MF

GO:0016757

transferase activity, transferring glycosyl groups

Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor).

IDA

MF

GO:0042328

heparan sulfate N-acetylglucosaminyltransferase activity

Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + heparan sulfate = UDP + (N-acetyl-D-glucosaminyl)-heparan sulfate.

NAS

MF

GO:0046872

metal ion binding

Interacting selectively and non-covalently with any metal ion.

IEA

MF

GO:0046982

protein heterodimerization activity

Interacting selectively and non-covalently with a nonidentical protein to form a heterodimer.

IPI

MF

GO:0050508

glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity

Catalysis of the reaction: beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP-N-acetyl-D-glucosamine = N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan + UDP.

IEA

MF

GO:0050509

N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

Catalysis of the reaction: N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP-alpha-D-glucuronate = beta-D-glucuronosyl-(1,4)-N-acetyl-alpha-D-glucosaminyl-(1,4)-beta-D-glucuronosyl-proteoglycan + UDP.

NAS

Domain ID Description

IPR004263

Exostosin-like

IPR015338

Exostosin , C-terminal

IPR027673

Exostosin-2

IPR029044

Nucleotide-diphospho-sugar transferases

Pathway ID Pathway Term Pathway Source

hsa00534

Glycosaminoglycan biosynthesis - heparan sulfate / heparin

KEGG

hsa01100

Metabolic pathways

KEGG

WP2857

Mesodermal Commitment Pathway

WikiPathways

UMLS CUI UMLS Term

C0015306

Hereditary Multiple Exostoses

No tissues found.

No databases found.

Pubmed ID Author Year Title

22951915

Haozi et al.

2012

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome

Gene Symbol Entrez ID Uniprot ID Score

GSKIP

51527

Q9P0R6

0.63

CLEC2L

154790

P0C7M8

0.72

CNTF

1270

P26441

0.76

RPS29

6235

P62273

0.76

SNCG

6623

O76070

0.76

TCEB1

6921

Q15369

0.76

STK16

8576

O75716

0.76

HYOU1

10525

Q9Y4L1

0.76

CRB1

23418

P82279

0.76

EXT2

2132

Q93063

0.84

EXT1

2131

Q16394

0.92

ANXA7

310

P20073

0.63

CDKN1A

1026

P38936

0.63

IDS

3423

P22304

0.63

PFDN1

5201

O60925

0.63

SLC22A2

6582

O15244

0.63

TK1

7083

P04183

0.63

SMN1; SMN2

6606

Q16637

0.63

FABP4

2167

P15090

0.76

HNF4A

3172

P41235

0.76

TRAP1

10131

Q12931

0.78

GALNT5

11227

Q7Z7M9

0.78