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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EXT2 Gene

protein-coding   GIFtS: 64
GCID: GC11P044117

exostosin 2

(Previous name: exostoses (multiple) 2 )
 Explore 23 diseases affiliated with
EXT2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EXT2    

Aliases
for EXT2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Exostosin 21 2     Exostoses (Multiple) 21
SOTV1 2     Exostosin-21
Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan
4-Alpha-N-Acetylglucosaminyltransferase2 3
     N-Acetylglucosaminyl-Proteoglycan 4-Beta-Glucuronosyltransferase2
Multiple Exostoses Protein 22 3     EC 2.4.1.2243
Putative Tumor Suppressor Protein EXT22 3     EC 2.4.1.2253

External Ids:    HGNC: 35131   Entrez Gene: 21322   Ensembl: ENSG000001513487   OMIM: 6082105   UniProtKB: Q930633   

Export aliases for EXT2 gene to outside databases

Previous GC identifers: GC11M045666 GC11P044802 GC11P044156 GC11P044081 GC11P044073 GC11P043826


Summaries
for EXT2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for EXT2:
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)

UniProtKB/Swiss-Prot: EXT2_HUMAN, Q93063
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

Gene Wiki entry for EXT2


Genomic Views
for EXT2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EXT2 gene promoter:
         E2F-4   E2F-3a   NF-1   NF-1/L   E2F-5   E2F-2   E47   E2F   Ik-2   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EXT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for EXT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EXT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p12-p11   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p12-p11

EXT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXT2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P044117:  view genomic region     (about GC identifiers)

Start:
 44,117,099 bp from pter      End:
 44,266,980 bp from pter
Size:
 149,882 bases      Orientation:
 plus strand

Proteins
for EXT2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: EXT2_HUMAN, Q93063 (See protein sequence)
Recommended Name: Exostosin-2  
Size: 718 amino acids; 82255 Da
Subunit: Forms a homo/hetero-oligomeric complex with EXT1. Interacts with GALNT5
Subcellular location: 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
Secondary accessions: B2R5Z6 C9JU51 J3KPT2 O15288
Alternative splicing: 3 isoforms:  Q93063-1   Q93063-2   Q93063-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EXT2: NX_Q93063

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q93063

    • EXT2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_000392.3  NP_001171554.1  NP_997005.1  

    ENSEMBL proteins: 
     ENSP00000431173   ENSP00000433827   ENSP00000434716   ENSP00000351509   ENSP00000342656  
     ENSP00000379032  
    Reactome Protein details: Q93063
    Human Recombinant Protein Products: 
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    Novus Biologicals EXT2 Proteins
    Novus Biologicals EXT2 Lysates
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    Uscn Proteins for EXT2

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005783endoplasmic reticulum ISS--
    GO:0005789endoplasmic reticulum membrane TAS10639137
    GO:0005794Golgi apparatus ISS--
    GO:0016021integral to membrane IEA--


    EXT2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for EXT2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EXT2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004263 Exostosin
     IPR015338 HexNAc_Trfase_a

    Graphical View of Domain Structure for InterPro Entry Q93063

    ProtoNet protein and cluster: Q93063

    1 Blocks protein family: IPB004263 Exostosin-like

    UniProtKB/Swiss-Prot: EXT2_HUMAN, Q93063
    Similarity: Belongs to the glycosyltransferase 47 family


    Function
    for EXT2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: EXT2_HUMAN, Q93063
    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
    Catalytic activity: 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
    Catalytic activity: 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

         Genatlas biochemistry entry for EXT2:
    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)

    Enzyme Numbers (IUBMB): EC 2.4.1.2251 EC 2.4.1.2241

    miRNA
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    hsa-miR-548t hsa-miR-518a-5p hsa-miR-575 hsa-miR-16-1* hsa-miR-590-3p hsa-miR-664*
    SwitchGear 3'UTR luciferase reporter plasmid: EXT2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EXT2 (see all 7)
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008375contributes to acetylglucosaminyltransferase activity IDA12907669
    GO:0015020glucuronosyltransferase activity IDA12907669
    GO:0016757transferase activity, transferring glycosyl groups IDA12907669
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0042328heparan sulfate N-acetylglucosaminyltransferase activity NAS12907669


    EXT2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Ext2tm1Werb for EXT2
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ext2):
     embryogenesis  mortality/aging  skeleton 

    EXT2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for EXT2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/16 pathways (see all 16)
    		MPS VI - Maroteaux-Lamy syndrome1.00
    		MPS IIIA - Sanfilippo syndrome A1.00
    		MPS IIIC - Sanfilippo syndrome C1.00
    		MPS IIID - Sanfilippo syndrome D1.00
    		MPS I - Hurler syndrome1.00
    		MPS IX - Natowicz syndrome1.00
    		Mucopolysaccharidoses1.00
    		MPS II - Hunter syndrome1.00
    2heparan sulfate biosynthesis
    		heparan sulfate biosynthesis1.00
    		heparan sulfate biosynthesis (late stages)0.78
    		Glycosaminoglycan biosynthesis - heparan sulfate0.83
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4Disease
    		Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for EXT2 
        heparan sulfate biosynthesis (late stages)
    heparan sulfate biosynthesis

    5/18        Reactome Pathways for EXT2 (see all 18)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    HS-GAG biosynthesis
    MPS II - Hunter syndrome


    2         Kegg Pathways  (Kegg details for EXT2):
        Glycosaminoglycan biosynthesis - heparan sulfate
    Metabolic pathways

    UniProtKB/Swiss-Prot: EXT2_HUMAN, Q93063
    Pathway: Protein modification; protein glycosylation


    EXT2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EXT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/45 Interacting proteins for EXT2 (Q930632, 3 ENSP000003426564) via UniProtKB, MINT, STRING, and/or I2D (see all 45)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8271113 I2D: score=2 
    SMN2Q166372, 3MINT-8271113 I2D: score=2 
    ANXA7P200732, 3MINT-8248318 I2D: score=2 
    CDKN1AP389362, 3MINT-8251849 I2D: score=2 
    PFDN1O609252, 3MINT-8265820 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IMP9326317
    GO:0001707mesoderm formation ----
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process TAS--
    GO:0006486protein glycosylation IEA--


    EXT2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EXT2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EXT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for EXT2

    2 HMDB Compounds for EXT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate-N-acetylglucosamineN-[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 (see all 30)528-04-1--
    2 Novoseek chemical compound relationships for EXT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 82.4 41 17761672 (4), 12907685 (3), 10639137 (2), 16026543 (2) (see all 18)
    arginine 9.45 1 10429361 (1)

    Search CenterWatch for drugs/clinical trials and news about EXT2 

    Transcripts
    for EXT2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for EXT2 gene (3 alternative transcripts): 
    NM_000401.3  NM_001178083.1  NM_207122.1  

    Unigene Cluster for EXT2:

    Exostosin 2
    Hs.368404  [show with all ESTs]
    Unigene Representative Sequence: NM_001178083
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533608 ENST00000532479 ENST00000527014 ENST00000358681 ENST00000343631
    ENST00000529186 ENST00000531161 ENST00000525559 ENST00000534048 ENST00000528159
    ENST00000395673(uc010rfo.2 uc009ykt.3 uc001mxz.3 uc001mya.3)


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    SwitchGear 3'UTR luciferase reporter plasmid: EXT2 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK309459.1 AK312375.1 BC010058.1 BC013050.1 BC068545.1 BX648142.1 U62740.1 U64511.1 
    U72263.1 

    16 DOTS entries:

    DT.95226140  DT.100721141  DT.445340  DT.100696889  DT.99935108  DT.120686902  DT.100820485  DT.100820472 
    DT.100820484  DT.40201271  DT.100820486  DT.120686918  DT.120686925  DT.92448397  DT.95226106  DT.99953257 

    24/347 AceView cDNA sequences (see all 347):

    AA327104 AA554147 BI966691 AA955014 BQ879810 AA360512 BG939332 AL522038 
    BM792147 BM781816 BG548776 BQ013477 BM991956 AI377318 AA337331 BF477388 
    BG623250 BM680119 CK903523 BM724884 BU622394 BE790912 BE070293 BQ420365 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for EXT2 (see all 6)    About this scheme

    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:                                                                                            -                                                         


    ECgene alternative splicing isoforms for EXT2

    Expression
    for EXT2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EXT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCTATTCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See EXT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EXT2

    SOURCE GeneReport for Unigene cluster: Hs.368404

    UniProtKB/Swiss-Prot: EXT2_HUMAN, Q93063
    Tissue specificity: Ubiquitous

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    In Situ
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    Orthologs
    for EXT2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for EXT2 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves EXT21 exostosin 2 79.35(n)
    91.62(a)    		   425859  NM_001031349.1  NP_001026520.1 
    lizard
    (Anolis carolinensis)    		 Reptilia EXT26
    		 --
    		 91(a)
    		 1 ↔ 1
    		 1(45595984-45689212)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC044703.12   -- 77.91(n)    BC044703.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii CD285285.12   -- 77.78(n)   386875  CD285285.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG107311 ATP synthase coupling factor B 54.89(n)
    49.34(a)    		   3772305  NM_166150.2  NP_725536.1 


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

    Paralogs
    for EXT2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EXT2 gene
    EXTL12  EXTL32  EXTL22  EXT12  
    5 SIMAP similar genes for EXT2 using alignment to 5 protein entries:     EXT2_HUMAN (see all proteins):
    DKFZp686C2342    EXTL2    EXT1    EXTL3    EXTL1

    EXT2 for paralogs           About GeneDecksing



    Genomic Variants
    for EXT2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2284 NCBI SNPs in EXT2 are shown (see all 2284)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs772048661,2
    		C,F,--43825117(+) GGACCA/GGAAGG 3 -- us2k11Minor allele frequency- G:0.02NA 120
    rs618790651,2
    		C,--43825576(+) CCTCTC/TGTTTA 3 -- us2k11Minor allele frequency- T:0.50NA 2
    rs783952591,2
    		F,--43826326(+) CGGCCC/GGGATC 3 -- us2k1 ut511Minor allele frequency- G:0.11WA 118
    rs588610921,2
    		--43826499(+) TAAGCG/TCGGCT 3 -- us2k1 int10--------
    rs1120825311,2
    		C,--43826966(+) GGTAGA/GGAAGG 3 -- int10--------
    rs749808061,2
    		F,--43827149(+) CCGGGG/AGCCTG 3 -- int11Minor allele frequency- A:0.07WA 118
    rs750176721,2
    		C,--43827655(+) ATAATC/TAGTTT 3 -- int12Minor allele frequency- T:0.04WA 120
    rs761643351,2
    		F,--43827941(+) TTGTTT/CTTAAT 3 -- int12Minor allele frequency- C:0.03NA EA 240
    rs746009401,2
    		--43828067(+) TTTTTC/TGGAAT 3 -- int10--------
    rs743711231,2
    		C,--43829472(+) CCCCTC/ACTCCT 3 -- int12Minor allele frequency- A:0.04WA 120

    HapMap Linkage Disequilibrium report for EXT2 (44117099 - 44266980 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for EXT2: --
    Human Gene Mutation Database (HGMD): EXT2

    Locus Specific Mutation Databases (LSDB): EXT2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EXT2
    DNA2.0 Custom Variant and Variant Library Synthesis for EXT2

    Disorders / Diseases
    for EXT2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EXT2 for disorders           About GeneDecksing

    OMIM gene information: 608210   
    OMIM disorders: 133701  
    UniProtKB/Swiss-Prot: EXT2_HUMAN, Q93063
  • Defects in EXT2 are a cause of hereditary multiple exostoses type 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
  • Defects in EXT2 are a cause of Potocki-Shaffer syndrome (POSHS) [MIM:601224]. It is a contiguous gene syndrome
    • due to proximal deletion of chromosome 11p11.2, including EXT2 and ALX4

    20/23 diseases for EXT2 (see all 23):    About MalaCards
    exostoses    potocki-shaffer syndrome    dysplasia epiphysealis hemimelica    exostoses, multiple, type 2
    osteochondroma    hereditary multiple exostoses    type 2 diabetes mellitus    enchondromatosis
    short stature    ollier disease    micropenis    coronary heart disease
    diabetes mellitus    exostosis    acute myeloid leukemia    myeloid leukemia
    chondrosarcoma    craniosynostosis    gigantism    osteoporosis

    4 diseases from the University of Copenhagen DISEASES database for EXT2:
    Exostosis     Chondrosarcoma     Ollier disease     Autosomal dominant disease

    10/11 Novoseek disease relationships for EXT2 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    exostoses multiple hereditary 98.9 65 19344451 (2), 20233460 (2), 10713884 (2), 18067075 (2) (see all 50)
    exostoses 94.4 6 10878610 (1), 19504431 (1), 10679937 (1), 9479495 (1) (see all 6)
    osteochondroma 87.1 12 15796962 (3), 11668521 (2), 9576285 (2), 16026543 (1) (see all 6)
    chondrosarcoma 82.8 17 15796962 (8), 19179614 (3), 17226760 (1), 19336518 (1)
    skeletal disorder 70.7 2 9326317 (1), 19839753 (1)
    bone tumor 65.9 1 9479495 (1)
    bone diseases 60.4 2 10713884 (1), 9150727 (1)
    genetic disorder 50.4 5 10639137 (1), 11391482 (1), 18367479 (1), 11169766 (1) (see all 5)
    tumors 33.5 19 10639137 (2), 11169766 (2), 12490068 (1), 11121397 (1) (see all 16)
    somatic mutations 17.3 1 12239711 (1)

    Genatlas disease: EXT2
    exostoses,multiple,congenital,2,also associated with foramina parietalia permagma,craniosynostosis,micropenis,mental
    retardation in a contiguous gene syndrome with 11p-deletion (DEF11S)

    GeneTests: EXT2
    Hereditary Multiple Osteochondromas

    Genetic Association Database (GAD): EXT2
    Human Genome Epidemiology (HuGE) Navigator: EXT2 (27 documents)

    Export disorders for EXT2 gene to outside databases

    Publications
    for EXT2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EXT2 gene, integrated from 9 sources (see all 143):
    (articles sorted by number of sources associating them with EXT2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. (PubMed id 10679296)1, 2, 4, 9 Kobayashi S....Shirasawa T. (2000)
    2. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. (PubMed id 9326317)1, 2, 9 Philippe C....Monaco A.P. (1997)
    3. Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses. (PubMed id 10429361)1, 2, 9 Park K.J.... Park J.-G. (1999)
    4. Mutation analysis of hereditary multiple exostoses in the Chinese. (PubMed id 10480354)1, 2, 9 Xu L.... Deng H.-X. (1999)
    5. An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. (PubMed id 16283885)1, 4, 9 Wuyts W....Vits L. (2005)
    6. Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. (PubMed id 11668521)1, 2, 9 Gigante M.... Fazio V.M. (2001)
    7. Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. (PubMed id 15586175)1, 4, 9 Vink G.R....Bakker E. (2005)
    8. Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. (PubMed id 11170095)1, 2, 9 Seki H.... Fukushima Y. (2001)
    9. Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. (PubMed id 11169766)1, 2, 9 Bernard M.A.... Hecht J.T. (2001)
    10. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. (PubMed id 10679937)1, 2, 9 Wuyts W. and Van Hul W. (2000)

    External Searches for EXT2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing EXT2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2132 HGNC: 3513 AceView: EXT2 Ensembl:ENSG00000151348 euGenes: HUgn2132
    ECgene: EXT2 Kegg: 2132 H-InvDB: EXT2

    Other Databases showing EXT2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EXT2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EXT2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EXT2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EXT2
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

    Intellectual Property
    for EXT2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for EXT2 gene:
    Search GeneIP for patents involving EXT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for EXT2 gene

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    About This Section

     
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