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Aliases for EXT2 Gene

Aliases for EXT2 Gene

  • Exostosin Glycosyltransferase 2 2 3
  • Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 3 4
  • N-Acetylglucosaminyl-Proteoglycan 4-Beta-Glucuronosyltransferase 2 3
  • Putative Tumor Suppressor Protein EXT2 3 4
  • Multiple Exostoses Protein 2 3 4
  • Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N- Acetylglucosaminyltransferase 2
  • Exostoses (Multiple) 2 2
  • EC 2.4.1.224 4
  • EC 2.4.1.225 4
  • Exostosin 2 2
  • Exostosin-2 3
  • SOTV 3

External Ids for EXT2 Gene

Previous GeneCards Identifiers for EXT2 Gene

  • GC11M045666
  • GC11P044802
  • GC11P044156
  • GC11P044081
  • GC11P044073
  • GC11P043826

Summaries for EXT2 Gene

Entrez Gene Summary for EXT2 Gene

  • 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]

GeneCards Summary for EXT2 Gene

EXT2 (Exostosin Glycosyltransferase 2) is a Protein Coding gene. Diseases associated with EXT2 include exostoses, multiple, type 2 and hereditary multiple osteochondromas. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include protein homodimerization activity and glucuronosyltransferase activity. An important paralog of this gene is EXT1.

UniProtKB/Swiss-Prot for EXT2 Gene

  • 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

Gene Wiki entry for EXT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXT2 Gene

Genomics for EXT2 Gene

Regulatory Elements for EXT2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EXT2 Gene

Start:
44,095,549 bp from pter
End:
44,245,430 bp from pter
Size:
149,882 bases
Orientation:
Plus strand

Genomic View for EXT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EXT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXT2 Gene

Proteins for EXT2 Gene

  • Protein details for EXT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93063-EXT2_HUMAN
    Recommended name:
    Exostosin-2
    Protein Accession:
    Q93063
    Secondary Accessions:
    • B2R5Z6
    • C9JU51
    • J3KPT2
    • O15288

    Protein attributes for EXT2 Gene

    Size:
    718 amino acids
    Molecular mass:
    82255 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Forms a homo/hetero-oligomeric complex with EXT1. Interacts with GALNT5.

    Alternative splice isoforms for EXT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXT2 Gene

Proteomics data for EXT2 Gene at MOPED

Post-translational modifications for EXT2 Gene

  • Ubiquitination at Lys168, Lys245, Lys494, and Lys690
  • Glycosylation at Asn288 and Asn637
  • Modification sites at PhosphoSitePlus

Other Protein References for EXT2 Gene

No data available for DME Specific Peptides for EXT2 Gene

Domains for EXT2 Gene

Gene Families for EXT2 Gene

HGNC:
  • EXT :Exostosin glycosyltransferase family

Protein Domains for EXT2 Gene

Suggested Antigen Peptide Sequences for EXT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q93063

UniProtKB/Swiss-Prot:

EXT2_HUMAN :
  • Q93063
Family:
  • Belongs to the glycosyltransferase 47 family.
genes like me logo Genes that share domains with EXT2: view

Function for EXT2 Gene

Molecular function for EXT2 Gene

GENATLAS Biochemistry: exostoses multiple gene 2,expressed in chondrocyte,accumulating in the Golgi network,forming a stable complex with EXT1 and catalyzing the synthesis of heparan sulfate,highly homologous to EXT1,interacting with B3GALT5 in normal type not in mutated form,mutated in EXT2 and having tumor suppressor function (see TSG11G)
UniProtKB/Swiss-Prot CatalyticActivity: UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan
UniProtKB/Swiss-Prot CatalyticActivity: UDP-alpha-D-glucuronate + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan
UniProtKB/Swiss-Prot Function: 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

Enzyme Numbers (IUBMB) for EXT2 Gene

Gene Ontology (GO) - Molecular Function for EXT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 contributes_to acetylglucosaminyltransferase activity IDA 12907669
GO:0015020 glucuronosyltransferase activity IDA 12907669
GO:0016757 transferase activity, transferring glycosyl groups IDA 12907669
GO:0016758 transferase activity, transferring hexosyl groups --
GO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity NAS 12907669
genes like me logo Genes that share ontologies with EXT2: view

Phenotypes for EXT2 Gene

genes like me logo Genes that share phenotypes with EXT2: view

Animal Models for EXT2 Gene

MGI Knock Outs for EXT2:

Animal Model Products

CRISPR Products

miRNA for EXT2 Gene

miRTarBase miRNAs that target EXT2

No data available for Transcription Factor Targeting and HOMER Transcription for EXT2 Gene

Localization for EXT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXT2 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EXT2 Gene COMPARTMENTS Subcellular localization image for EXT2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for EXT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum ISS --
GO:0005789 endoplasmic reticulum membrane TAS 10639137
GO:0005794 Golgi apparatus ISS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with EXT2: view

Pathways for EXT2 Gene

genes like me logo Genes that share pathways with EXT2: view

UniProtKB/Swiss-Prot Q93063-EXT2_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for EXT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IMP 9326317
GO:0001707 mesoderm formation IEA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0006024 glycosaminoglycan biosynthetic process TAS --
GO:0006486 protein glycosylation IEA --
genes like me logo Genes that share ontologies with EXT2: view

Compounds for EXT2 Gene

(2) HMDB Compounds for EXT2 Gene

Compound Synonyms Cas Number PubMed IDs
Uridine 5'-diphosphate
  • 5'-UDP
58-98-0
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
528-04-1

(2) Novoseek inferred chemical compound relationships for EXT2 Gene

Compound -log(P) Hits PubMed IDs
heparan sulfate 82.4 26
arginine 9.45 1
genes like me logo Genes that share compounds with EXT2: view

Transcripts for EXT2 Gene

Unigene Clusters for EXT2 Gene

Exostosin glycosyltransferase 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EXT2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EXT2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: - - - - -
SP2: - - - - -
SP3:
SP4: -
SP5: -
SP6: -

Relevant External Links for EXT2 Gene

GeneLoc Exon Structure for
EXT2
ECgene alternative splicing isoforms for
EXT2

Expression for EXT2 Gene

mRNA expression in normal human tissues for EXT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EXT2 Gene

SOURCE GeneReport for Unigene cluster for EXT2 Gene Hs.368404

mRNA Expression by UniProt/SwissProt for EXT2 Gene

Q93063-EXT2_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with EXT2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for EXT2 Gene

Orthologs for EXT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EXT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EXT2 35
  • 99.54 (n)
  • 99.45 (a)
EXT2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EXT2 35
  • 86.68 (n)
  • 92.34 (a)
EXT2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EXT2 35
  • 90.25 (n)
  • 95.13 (a)
EXT2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ext2 35
  • 86.35 (n)
  • 93.04 (a)
Ext2 16
Ext2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EXT2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ext2 35
  • 86.92 (n)
  • 92.24 (a)
chicken
(Gallus gallus)
Aves EXT2 35
  • 77.97 (n)
  • 88.87 (a)
EXT2 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EXT2 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ext2 35
  • 75.49 (n)
  • 84.12 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7391 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
ext2 35
  • 74.19 (n)
  • 83.36 (a)
ext2 36
  • 85 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000081 35
  • 54.14 (n)
  • 49.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ext2 35
  • 54.85 (n)
  • 49.48 (a)
Ext2 36
  • 47 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
ManyToMany
-- 36
  • 41 (a)
ManyToMany
Species with no ortholog for EXT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EXT2 Gene

ENSEMBL:
Gene Tree for EXT2 (if available)
TreeFam:
Gene Tree for EXT2 (if available)

Paralogs for EXT2 Gene

Paralogs for EXT2 Gene

Selected SIMAP similar genes for EXT2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with EXT2: view

Variants for EXT2 Gene

Sequence variations from dbSNP and Humsavar for EXT2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs355704 -- 44,226,846(-) CATTA(A/G)AGTGC intron-variant
rs355705 -- 44,226,816(-) GCTCA(A/G)ACCTT intron-variant
rs355706 -- 44,226,718(-) AGGCT(A/T)CGTCT intron-variant
rs355707 -- 44,226,705(-) CATGC(C/T)GCCCA intron-variant
rs420876 -- 44,239,432(-) ctggc(A/G)agaga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EXT2 Gene

Variant ID Type Subtype PubMed ID
nsv832139 CNV Loss 17160897

Relevant External Links for EXT2 Gene

HapMap Linkage Disequilibrium report
EXT2
Human Gene Mutation Database (HGMD)
EXT2
Locus Specific Mutation Databases (LSDB)
EXT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXT2 Gene

Disorders for EXT2 Gene

(1) OMIM Diseases for EXT2 Gene (608210)

UniProtKB/Swiss-Prot

EXT2_HUMAN
  • Hereditary multiple exostoses 2 (EXT2) [MIM:133701]: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. {ECO:0000269 PubMed:10429361, ECO:0000269 PubMed:10480354, ECO:0000269 PubMed:10738008, ECO:0000269 PubMed:11169766, ECO:0000269 PubMed:11170095, ECO:0000269 PubMed:11432960, ECO:0000269 PubMed:11668521, ECO:0000269 PubMed:9326317}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases. Note=The gene represented in this entry is involved in disease pathogenesis.

(4) University of Copenhagen DISEASES for EXT2 Gene

(11) Novoseek inferred disease relationships for EXT2 Gene

Disease -log(P) Hits PubMed IDs
exostoses multiple hereditary 98.9 60
exostoses 94.4 6
osteochondroma 87.1 10
chondrosarcoma 82.8 13
skeletal disorder 70.7 2

Genatlas disease for EXT2 Gene

exostoses,multiple,congenital,2,also associated with foramina parietalia permagma,craniosynostosis,micropenis,mental retardation in a contiguous gene syndrome with 11p-deletion (DEF11S)

Relevant External Links for EXT2

GeneTests
EXT2
GeneReviews
EXT2
Genetic Association Database (GAD)
EXT2
Human Genome Epidemiology (HuGE) Navigator
EXT2
genes like me logo Genes that share disorders with EXT2: view

Publications for EXT2 Gene

  1. Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. (PMID: 10679296) Kobayashi S. … Shirasawa T. (Biochem. Biophys. Res. Commun. 2000) 3 4 23 48
  2. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. (PMID: 10679937) Wuyts W. … Van Hul W. (Hum. Mutat. 2000) 3 4 23
  3. Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. (PMID: 11668521) Gigante M. … Fazio V.M. (Int. J. Cancer 2001) 3 4 23
  4. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. (PMID: 8782816) Stickens D.J. … Evans G.A. (Nat. Genet. 1996) 3 4 23
  5. Positional cloning of a gene involved in hereditary multiple exostoses. (PMID: 8894688) Wuyts W. … Willems P.J. (Hum. Mol. Genet. 1996) 3 4 23

Products for EXT2 Gene

Sources for EXT2 Gene

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