InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: EXT2

Summary

InnateDB Gene

IDBG-40702.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EXT2

Gene Name

exostosin 2

Synonyms

SOTV

Species

Homo sapiens

Ensembl Gene

ENSG00000151348

Encoded Proteins

IDBP-40704

exostosin 2

IDBP-40706

exostosin 2

IDBP-239070

exostosin 2

IDBP-585044

exostosin 2

IDBP-590192

exostosin 2

IDBP-590256

exostosin 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:44095549-44245429

Strand

Forward strand

Band

p11.2

Transcripts

ENST00000343631	ENSP00000342656
ENST00000358681	ENSP00000351509
ENST00000395673	ENSP00000379032
ENST00000533608	ENSP00000431173
ENST00000532479	ENSP00000433827
ENST00000527014	ENSP00000434716
ENST00000529186
ENST00000531161
ENST00000525559
ENST00000534048
ENST00000528159

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	27 [view]
Protein-Protein	27 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008375	acetylglucosaminyltransferase activity
GO:0015020	glucuronosyltransferase activity
GO:0016757	transferase activity, transferring glycosyl groups
GO:0016758	transferase activity, transferring hexosyl groups
GO:0042328	heparan sulfate N-acetylglucosaminyltransferase activity
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization activity
GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

Biological Process

GO:0001503	ossification
GO:0001707	mesoderm formation
GO:0005975	carbohydrate metabolic process
GO:0006024	glycosaminoglycan biosynthetic process
GO:0006486	protein glycosylation
GO:0007165	signal transduction
GO:0015012	heparan sulfate proteoglycan biosynthetic process
GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0030154	cell differentiation
GO:0030203	glycosaminoglycan metabolic process
GO:0033692	cellular polysaccharide biosynthetic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0000139	Golgi membrane
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005794	Golgi apparatus
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031227	intrinsic component of endoplasmic reticulum membrane
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000027198

View Gene Order

ENSBTAG00000019644

Not yet available

Pathways

NETPATH

REACTOME

REACT_121248

HS-GAG biosynthesis pathway

REACT_147853

Mucopolysaccharidoses pathway

REACT_200783

Myoclonic epilepsy of Lafora pathway

REACT_267711

Defective B4GALT7 causes EDS, progeroid type pathway

REACT_267713

Defective CHST6 causes MCDC1 pathway

REACT_147719

MPS VI - Maroteaux-Lamy syndrome pathway

REACT_267645

Defective PAPSS2 causes SEMD-PA pathway

REACT_474

Metabolism of carbohydrates pathway

REACT_147749

MPS IIID - Sanfilippo syndrome D pathway

REACT_267662

Defective SLC26A2 causes chondrodysplasias pathway

REACT_147739

MPS IX - Natowicz syndrome pathway

REACT_267674

Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway

REACT_267642

Defective CHST14 causes EDS, musculocontractural type pathway

REACT_121314

Heparan sulfate/heparin (HS-GAG) metabolism pathway

REACT_147798

MPS IV - Morquio syndrome B pathway

REACT_267659

Defective B3GAT3 causes JDSSDHD pathway

REACT_267708

Defective CHST3 causes SEDCJD pathway

REACT_147825

MPS IV - Morquio syndrome A pathway

REACT_267654

Defective EXT2 causes exostoses 2 pathway

REACT_267707

Diseases associated with glycosaminoglycan metabolism pathway

REACT_147734

MPS II - Hunter syndrome pathway

REACT_267635

Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway

REACT_121315

Glycosaminoglycan metabolism pathway

REACT_267705

Diseases of glycosylation pathway

REACT_147759

MPS VII - Sly syndrome pathway

REACT_267682

Defective CHSY1 causes TPBS pathway

REACT_111217

Metabolism pathway

REACT_147857

MPS I - Hurler syndrome pathway

REACT_147753

MPS IIIA - Sanfilippo syndrome A pathway

REACT_147860

MPS IIIC - Sanfilippo syndrome C pathway

REACT_116125

Disease pathway

REACT_200833

Glycogen storage diseases pathway

REACT_147788

MPS IIIB - Sanfilippo syndrome B pathway

KEGG

hsa00534

Glycosaminoglycan biosynthesis pathway

INOH

PID NCI

Cross-References

SwissProt

Q93063

TrEMBL

E9PJA5 E9PNL9

UniProt Splice Variant

Entrez Gene

2132

UniGene

Hs.368404 Hs.625019

RefSeq

NM_000401 NM_001178083 NM_207122

HUGO

HGNC:3513

OMIM

608210

CCDS

CCDS7908 CCDS53618 CCDS53619

HPRD

00599

IMGT

EMBL

AC068457 AC103854 AC134775 AK312375 BC010058 BX648142 CH471064 U62740 U64511 U67356 U67357 U67358 U67360 U67361 U67362 U67363 U67364 U67365 U67366 U67367 U67368 U72263

GenPept

AAB07008 AAB62718 AAC50764 AAC51219 AAH10058 BAG35293 EAW68068 EAW68070 EAW68071

RNA Seq Atlas

2132