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Aliases for EXT2 Gene

Aliases for EXT2 Gene

  • Exostosin Glycosyltransferase 2 2 3 5
  • 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
  • SOTV 3
  • SSMS 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 Metabolism and heparan sulfate biosynthesis. GO annotations related to this gene include protein homodimerization activity and transferase activity, transferring glycosyl groups. 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. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

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

Promoters for EXT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EXT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for EXT2 Gene

Chromosome:
11
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

Genes around EXT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 168, Lys 245, Lys 494, and Lys 690
  • Glycosylation at Asn 288 and Asn 637
  • Modification sites at PhosphoSitePlus

Other Protein References for EXT2 Gene

No data available for DME Specific Peptides for EXT2 Gene

Domains & Families for EXT2 Gene

Gene Families for EXT2 Gene

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 :
  • Belongs to the glycosyltransferase 47 family.
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. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

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 IEA,IDA 12907669
GO:0015020 glucuronosyltransferase activity IEA,IDA 12907669
GO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity NAS 12907669
GO:0042803 NOT protein homodimerization activity IDA 12907669
GO:0050509 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity NAS 12907669
genes like me logo Genes that share ontologies with EXT2: view
genes like me logo Genes that share phenotypes with EXT2: view

Human Phenotype Ontology for EXT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EXT2 Gene

MGI Knock Outs for EXT2:

Animal Model Products

No data available for Transcription Factor Targets 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
extracellular 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:0005789 endoplasmic reticulum membrane TAS 10639137
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EXT2: view

Pathways & Interactions 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 IEA,TAS --
GO:0006486 protein glycosylation IEA --
genes like me logo Genes that share ontologies with EXT2: view

No data available for SIGNOR curated interactions for EXT2 Gene

Drugs & Compounds for EXT2 Gene

(2) Drugs for EXT2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(3) Additional Compounds for EXT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate glucuronic acid
  • a-D-Glucopyranuronic acid 1->5'-ester with uridine 5'-(trihydrogen pyrophosphate)
  • a-D-Glucopyranuronic acid ester with uridine 5'-pyrophosphate
  • alpha-D-Glucopyranuronic acid 1-P'-ester with uridine 5'-(trihydrogen diphosphate)
  • alpha-delta-Glucopyranuronic acid 1->5'-ester with uridine 5'-(trihydrogen pyrophosphate)
  • alpha-delta-Glucopyranuronic acid 1-P'-ester with uridine 5'-(trihydrogen diphosphate)
2616-64-0
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
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
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:

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

Protein differential expression in normal tissues from HIPED for EXT2 Gene

This gene is overexpressed in Serum (28.8) and Amniocyte (28.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with EXT2: view

Protein tissue co-expression partners for EXT2 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia EXT2 35
  • 99.54 (n)
  • 99.45 (a)
EXT2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ext2 35
  • 86.92 (n)
  • 92.24 (a)
oppossum
(Monodelphis domestica)
Mammalia EXT2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
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)
zebrafish
(Danio rerio)
Actinopterygii -- 35
ext2 35
  • 74.19 (n)
  • 83.36 (a)
ext2 36
  • 85 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7391 35
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

(4) 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
VAR_002378 Hereditary multiple exostoses 2 (EXT2)
VAR_012823 Hereditary multiple exostoses 2 (EXT2)
VAR_012824 Hereditary multiple exostoses 2 (EXT2)
VAR_012825 Hereditary multiple exostoses 2 (EXT2)
VAR_012826 Hereditary multiple exostoses 2 (EXT2)

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

Variant ID Type Subtype PubMed ID
nsv832139 CNV Loss 17160897

Variation tolerance for EXT2 Gene

Residual Variation Intolerance Score: 81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EXT2 Gene

HapMap Linkage Disequilibrium report
EXT2
Human Gene Mutation Database (HGMD)
EXT2

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

Disorders for EXT2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for EXT2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
exostoses, multiple, type 2
  • hereditary multiple exostoses 2
hereditary multiple osteochondromas
  • diaphyseal aclasis
hereditary multiple osteochondromatosis, type ii
  • hereditary multiple exostoses, type ii
hereditary multiple exostoses
  • hereditary multiple exostoses 1
potocki-shaffer syndrome
  • pss
- elite association - COSMIC cancer census association via MalaCards
Search EXT2 in MalaCards View complete list of genes associated with diseases

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.

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

Genetic Association Database (GAD)
EXT2
Human Genome Epidemiology (HuGE) Navigator
EXT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. (PMID: 9576285) Bridge J.A. … Neff J.R. (Cancer 1998) 2 3 23
  3. [The EXT2 gene mutation in a family with hereditary multiple exostoses]. (PMID: 20140877) Yao F. … Kang B. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010) 3 23
  4. Aberrant heparan sulfate proteoglycan localization, despite normal exostosin, in central chondrosarcoma. (PMID: 19179614) Schrage Y.M. … BovAce J.V. (Am. J. Pathol. 2009) 3 23
  5. Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin. (PMID: 19309273) Vanita V. … Singh J.R. (Genet Test Mol Biomarkers 2009) 3 23

Products for EXT2 Gene

Sources for EXT2 Gene

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