Tbio EXT2 Exostosin-2

Protein Summary

Description

Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). 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]

Uniprot Accession IDs

• Q93063
• B2R5Z6
• C9JU51
• J3KPT2
• O15288

Gene Name

• EXT2

Ensembl ID

• ENST00000343631
• ENSP00000342656
• ENSG00000151348
• ENST00000358681
• ENSP00000351509
• ENST00000395673
• ENSP00000379032
• ENST00000533608
• ENSP00000431173

Symbol

• SOTV
• SSMS

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	0.99
disease perturbation	0.83
cellular component	0.8
virus perturbation	0.76
transcription factor binding site profile	0.74

Protein Classes

PANTHER Classes

Protein / Transferase / Glycosyltransferase / Exostosin-2

DTO Classes

Protein / Enzyme / Transferase / Glycosyltransferase / Exostosin-2

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 201.77   (req: < 5)

Gene RIFs: 63   (req: <= 3)

Antibodies: 218   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 201.77   (req: >= 5)

Gene RIFs: 63   (req: > 3)

Antibodies: 218   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 16

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

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No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (88)

Explore Interacting Targets

1 – 10 of 88

• See Interactions on String-DB

INVS

Tbio

Novelty:  0.00834489

p_int:  0.999988048

p_ni:  3.18e-7

p_wrong:  0.000011635

Score:  0.359

Data Source:  BioPlex,STRINGDB

TTC19

Tbio

Novelty:  0.08251578

p_int:  0.999906537

p_ni:  0.000093443

p_wrong:  2e-8

Score:  0.179

Data Source:  BioPlex,STRINGDB

RBFA

Tbio

Novelty:  0.1061138

p_int:  0.997134008

p_ni:  0.000025766

p_wrong:  0.002840226

Score:  0.163

Data Source:  BioPlex,STRINGDB

EXT1

Tbio

Family:  Enzyme

Novelty:  0.00355951

p_int:  0.995706036

p_ni:  0.004293964

Score:  0.955

Data Source:  BioPlex,Reactome,STRINGDB

AFAP1

Tbio

Novelty:  0.00859495

p_int:  0.991335525

p_ni:  2.7e-8

p_wrong:  0.008664448

Score:  0.359

Data Source:  BioPlex,STRINGDB

ATE1

Tbio

Family:  Enzyme

Novelty:  0.01672896

p_int:  0.988848392

p_ni:  0.011151608

Data Source:  BioPlex

P39880

Tbio

Novelty:  0.00415896

p_int:  0.984977607

p_ni:  0.015022393

Score:  0.221

Data Source:  BioPlex,STRINGDB

USP30

Tchem

Family:  Enzyme

Novelty:  0.03427211

p_int:  0.979750387

p_ni:  0.020249612

p_wrong:  1e-9

Score:  0.183

Data Source:  BioPlex,STRINGDB

PSCA

Tbio

Novelty:  0.00323778

p_int:  0.93065173

p_ni:  0.06934827

Data Source:  BioPlex

NOP9

Tdark

Novelty:  2.89535198

p_int:  0.898708476

p_ni:  0.101291403

p_wrong:  1.21e-7

Score:  0.173

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (24)

Reactome (10)

KEGG (2)

UniProt (1)

WikiPathways (11)

Defective EXT1 causes exostoses 1, TRPS2 and CHDS (R-HSA-3656253)

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5

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Defective EXT1 causes exostoses 1, TRPS2 and CHDS	14 targets	R-HSA-3656253
Reactome	Defective EXT2 causes exostoses 2	14 targets	R-HSA-3656237
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Diseases associated with glycosaminoglycan metabolism	41 targets	R-HSA-3560782
Reactome	Diseases of glycosylation	146 targets	R-HSA-3781865

Name	Explore in Pharos	Explore in Source
Defective EXT1 causes exostoses 1, TRPS2 and CHDS	14 targets	R-HSA-3656253
Defective EXT2 causes exostoses 2	14 targets	R-HSA-3656237
Disease	1105 targets	R-HSA-1643685
Diseases associated with glycosaminoglycan metabolism	41 targets	R-HSA-3560782
Diseases of glycosylation	146 targets	R-HSA-3781865

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (24)

Functions (7)

Components (8)

Processes (9)

Find Similar Targets

Items per page:

10

1 – 7 of 7

GO Term	Evidence	Assigned by
glucuronosyltransferase activity	Inferred from Direct Assay (IDA)	BHF-UCL
transferase activity, transferring glycosyl groups	Inferred from Direct Assay (IDA)	BHF-UCL
protein heterodimerization activity	Inferred from Physical Interaction (IPI)	BHF-UCL
heparan sulfate N-acetylglucosaminyltransferase activity	Non-traceable Author Statement (NAS)	BHF-UCL
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	Non-traceable Author Statement (NAS)	BHF-UCL
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	Inferred from Electronic Annotation (IEA)	UniProtKB-EC
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations (null)

No disease associations found

GWAS Traits (5)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 5

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
puberty onset measurement	EFO_0005677	4	1	4		74.8
balding measurement	EFO_0007825	1	1	1		61.4
synophrys measurement	EFO_0007906	1	1	1		56.2
IGA glomerulonephritis	EFO_0004194	1	1	0	1.1	30.2
breast carcinoma	EFO_0000305	1	1	0	1	0

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 5

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
puberty onset measurement	EFO_0005677	4		74.8
balding measurement	EFO_0007825	1		61.4
synophrys measurement	EFO_0007906	1		56.2
IGA glomerulonephritis	EFO_0004194	0	1.1	30.2
breast carcinoma	EFO_0000305	0	1	0

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Alternative splicing
Complete proteome
Disease mutation
Disulfide bond
Endoplasmic reticulum
Epilepsy
Glycoprotein
Glycosyltransferase
Golgi apparatus
Hereditary multiple exostoses

GWAS Trait Find Similar Targets

No Header	No Header
balding measurement
breast carcinoma
IGA glomerulonephritis
puberty onset measurement
synophrys measurement

MGI Phenotype Find Similar Targets

No Header	No Header
embryo phenotype
mortality/aging
skeleton phenotype

IDG Resources

No IDG generated resources found

Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	exostosin glycosyltransferase 2	VGNC:11348	451140
Macaque	exostosin glycosyltransferase 2		715975
Mouse	exostoses (multiple) 2	MGI:108050	14043
Rat	exostosin glycosyltransferase 2	RGD:1307707	311215
Dog	exostosin glycosyltransferase 2	VGNC:40532	475989

Species	Name	OMA	EggNOG	Inparanoid
Chimp	exostosin glycosyltransferase 2
Macaque	exostosin glycosyltransferase 2
Mouse	exostoses (multiple) 2
Rat	exostosin glycosyltransferase 2
Dog	exostosin glycosyltransferase 2

Publication Statistics

PubMed Score 201.77

PubMed score by year

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PubTator Score 136.80

PubTator score by year

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Related Publications

Text Mined References (104)

GeneRif Annotations (63)

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10

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PMID	Year	Title