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EXT2 Gene

protein-coding   GIFtS: 68
GCID: GC11P044117

Exostosin Glycosyltransferase 2

(Previous names: exostoses (multiple) 2, exostosin 2)
  See EXT2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Exostosin Glycosyltransferase 21 2     Exostosin 21
N-Acetylglucosaminyl-Proteoglycan 4-Beta-Glucuronosyltransferase1 2     Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-
Acetylglucosaminyltransferase1
Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan
4-Alpha-N-Acetylglucosaminyltransferase2 3
     SOTV2
Multiple Exostoses Protein 22 3     exostosin-22
Putative Tumor Suppressor Protein EXT22 3     EC 2.4.1.2243
Exostoses (Multiple) 21     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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hereditary multiple osteochondromatosis, type ii, and exostoses, multiple, type 2. GO annotations related to this gene include glucuronosyltransferase activity and protein homodimerization activity. An important paralog of this gene is EXTL1.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   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 Chromatin IP Primers for EXT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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

Explore proteomics data for EXT2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys168, Lys245, Lys494, Lys690
  • Glycosylation2 at Asn288, Asn637
  • Modification sites at PhosphoSitePlus

  • See EXT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    EXT2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for EXT2

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EXT: Exostosin glycosyltransferase family

    3 InterPro protein domains:
     IPR004263 Exostosin
     IPR015338 HexNAc_Trfase_a
     IPR027673 Exostosin-2

    Graphical View of Domain Structure for InterPro Entry Q93063

    ProtoNet protein and cluster: Q93063

    1 Blocks protein domain: IPB004263 Exostosin-like

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


    Find genes that share domains with EXT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (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
         
    Find genes that share ontologies with EXT2           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ext2):
     embryogenesis  mortality/aging  skeleton 

    Find genes that share phenotypes with EXT2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ext2tm1Werb for EXT2

       genOway: Develop your customized and physiologically relevant rodent model for EXT2

    miRNA
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    miRTarBase miRNAs that target EXT2:
    hsa-mir-34a-5p (MIRT047352), hsa-mir-26b-5p (MIRT029899)

    Block miRNA regulation of human, mouse, rat EXT2 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate EXT2:
    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 plasmidEXT2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EXT2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EXT2_HUMAN, Q93063: 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: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane3
    cytosol1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    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 component of membrane IEA--

    Find genes that share ontologies with EXT2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for EXT2 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    heparan sulfate biosynthesis (late stages)0.00
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    4Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG biosynthesis0.57
    5Disease
    Disease


    Find genes that share SuperPaths with EXT2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    1 Reactome Pathway for EXT2
        HS-GAG biosynthesis


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

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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EXT2
    Interactions:

        GeneGlobe Interaction Network for EXT2

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

    Selected Interacting proteins for EXT2 (Q930632, 3 ENSP000003426564) via UniProtKB, MINT, STRING, and/or I2D (see all 47)

    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): Selected biological process terms (see all 12):    About this table

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

    Find genes that share ontologies with EXT2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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 inferred 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)



    Find genes that share compounds with EXT2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EXT2 gene (3 alternative transcripts): 
    NM_000401.3  NM_001178083.1  NM_207122.1  

    Unigene Cluster for EXT2:

    Exostosin glycosyltransferase 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 plasmidEXT2 3' UTR sequence
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 347):

    AA876363 AA319347 BP358762 N31328 BU161203 BU543150 U64511 BQ100718 
    BE857560 BM791601 BM713808 BG573595 BF822715 BQ425029 BU677896 BM708050 
    BE042790 BU622394 AW134913 BQ186033 BF432556 CA426432 AI147779 BF477388 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EXT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTATTCCT
    EXT2 Expression
    About this image


    EXT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Lung (Respiratory System)
             Stem Bronchi
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Placenta (Extraembryonic Tissues)
    EXT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EXT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368404

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

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for EXT2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ext21 , 5 exostoses (multiple) 21, 5 86.35(n)1
    93.04(a)1
      2 (51.62 cM)5
    140431  NM_010163.31  NP_034293.21 
     936610285 
    chicken
    (Gallus gallus)
    Aves EXT21 exostosin 2 77.97(n)
    88.87(a)
      425859  NM_001031349.1  NP_001026520.1 
    lizard
    (Anolis carolinensis)
    Reptilia EXT26
    exostosin glycosyltransferase 2
    92(a)
    1 ↔ 1
    1(45591048-45689212)
    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 Ext21 Ext2 54.85(n)
    49.48(a)
      3772101  NM_166150.2  NP_725536.1 


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

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

    Find genes that share paralogs with EXT2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EXT2 (see all 2704)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0023784
    Hereditary multiple exostoses 2 (EXT2)4--see VAR_0023782 D N mis40--------
    VAR_0128264
    Hereditary multiple exostoses 2 (EXT2)4--see VAR_0128262 A V mis40--------
    VAR_0128254
    Hereditary multiple exostoses 2 (EXT2)4--see VAR_0128252 R S mis40--------
    VAR_0128244
    Hereditary multiple exostoses 2 (EXT2)4--see VAR_0128242 L R mis40--------
    VAR_0128274
    Hereditary multiple exostoses 2 (EXT2)4--see VAR_0128272 R P mis40--------
    VAR_0128284
    Hereditary multiple exostoses 2 (EXT2)4--see VAR_0128282 I T mis40--------
    VAR_0128234
    Hereditary multiple exostoses 2 (EXT2)4--see VAR_0128232 C R mis40--------
    rs679843491,2
    C,F--43851740(+) CACAT-/G/TCGGGT 3 -- int12NA 4
    rs1381333821,2
    C--43855085(+) CTCCT-/ACAC  
            
    ACACA
    3 -- int10--------
    rs1831036761,2
    --43901368(+) ACACAC/TACACA 3 -- int10--------

    HapMap Linkage Disequilibrium report for EXT2 (44117099 - 44266980 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EXT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832139CNV Loss17160897

    Human Gene Mutation Database (HGMD): EXT2
    Locus Specific Mutation Databases (LSDB): EXT2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EXT2
    DNA2.0 Custom Variant and Variant Library Synthesis for EXT2

    (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.)
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    OMIM gene information: 608210   
    OMIM disorders: 133701  
    UniProtKB/Swiss-Prot: EXT2_HUMAN, Q93063
  • 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. 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

  • 11 diseases for EXT2:    
    About MalaCards
    hereditary multiple osteochondromatosis, type ii    exostoses, multiple, type 2    osteochondroma    dysplasia epiphysealis hemimelica
    hereditary multiple osteochondromas    exostoses, multiple, type 1    hereditary multiple exostoses    potocki-shaffer syndrome
    exostosis    ollier disease    autosomal dominant disease

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

    Find genes that share disorders with EXT2           About GenesLikeMe

    Selected Novoseek inferred 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
    GeneReviews: EXT2
    Genetic Association Database (GAD): EXT2
    Human Genome Epidemiology (HuGE) Navigator: EXT2 (27 documents)

    Export disorders for EXT2 gene to outside databases

    (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)
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    PubMed articles for EXT2 gene, integrated from 10 sources (see all 153):
    (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. (Biochem. Biophys. Res. Commun. 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. (Am. J. Hum. Genet. 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. (J. Hum. Genet. 1999)
    4. Mutation analysis of hereditary multiple exostoses in the Chinese. (PubMed id 10480354)1, 2, 9 Xu L.... Deng H.-X. (Hum. Genet. 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. (Clin. Genet. 2005)
    6. Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. (PubMed id 11668521)1, 2, 9 Gigante M.... Fazio V.M. (Int. J. Cancer 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. (Eur. J. Hum. Genet. 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. (Am. J. Med. Genet. 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. (Cell Motil. Cytoskeleton 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. (Hum. Mutat. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=EXT2[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=EXT2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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