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EXTL2 Gene

protein-coding   GIFtS: 59
GCID: GC01M101337

Exostosin-Like Glycosyltransferase 2

(Previous name: exostoses (multiple)-like 2)
  See EXTL2-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-Like Glycosyltransferase 21 2     EXT-Related Protein 22 3
Exostoses (Multiple)-Like 21 2     4-N-acteylhexosaminyltransferase1
Alpha-1,4-N-Acetylhexosaminyltransferase EXTL22 3     alpha-11
Alpha-GalNAcT EXTL22 3     Exostosin-Like 22
Glucuronyl-Galactosyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase2 3     Processed Exostosin-Like 22
EXTR22 3     EC 2.4.1.2233

External Ids:    HGNC: 35161   Entrez Gene: 21352   Ensembl: ENSG000001626947   OMIM: 6024115   UniProtKB: Q9UBQ63   

Export aliases for EXTL2 gene to outside databases

Previous GC identifers: GC01M102128 GC01M100519 GC01M100629 GC01M100800 GC01M101049 GC01M101110 GC01M099463


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for EXTL2 Gene:
EXTL2 (exostosin-like glycosyltransferase 2) is a protein-coding gene. Diseases associated with EXTL2 include hereditary multiple exostoses, and exostosis. GO annotations related to this gene include glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity and alpha-1,4-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is EXTL1.

UniProtKB/Swiss-Prot: EXTL2_HUMAN, Q9UBQ6
Function: Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating
addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to
nascent heparan sulfate chains

Gene Wiki entry for EXTL2 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_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EXTL2 gene promoter:
         RFX1   AML1a   GATA-3   FOXJ2 (long isoform)   FOXJ2   MRF-2   GATA-1   GATA-2   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEXTL2 promoter sequence
   Search Chromatin IP Primers for EXTL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EXTL2


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

Entrez Gene cytogenetic band: 1p21   Ensembl cytogenetic band:  1p21.2   HGNC cytogenetic band: 1p21

EXTL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXTL2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M101337:  view genomic region     (about GC identifiers)

Start:
101,337,941 bp from pter      End:
101,361,554 bp from pter
Size:
23,614 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: EXTL2_HUMAN, Q9UBQ6 (See protein sequence)
Recommended Name: Exostosin-like 2  
Size: 330 amino acids; 37466 Da
Secondary accessions: B2R795 D3DT60

Explore the universe of human proteins at neXtProt for EXTL2: NX_Q9UBQ6

Explore proteomics data for EXTL2 at MOPED

Post-translational modifications: 

  • The soluble form derives from the membrane form by proteolytic processing1
  • Glycosylation2 at Asn74

  • See EXTL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001028197.1  NP_001248369.1  NP_001248370.1  NP_001248371.1  NP_001430.1  

    ENSEMBL proteins: 
     ENSP00000359131   ENSP00000359132   ENSP00000403363   ENSP00000392255   ENSP00000444385  

    EXTL2 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for EXTL2

     
    Search eBioscience for Proteins for EXTL2 

    EXTL2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Cloud-Clone Corp. ELISAs for EXTL2
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    Search eBioscience for ELISAs for EXTL2 


    (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
     IPR027672 Exostosin-like_2

    Graphical View of Domain Structure for InterPro Entry Q9UBQ6

    ProtoNet protein and cluster: Q9UBQ6

    UniProtKB/Swiss-Prot: EXTL2_HUMAN, Q9UBQ6
    Similarity: Belongs to the glycosyltransferase 47 family


    Find genes that share domains with EXTL2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: EXTL2_HUMAN, Q9UBQ6
    Function: Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating
    addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to
    nascent heparan sulfate chains
    Catalytic activity: UDP-N-acetyl-D-glucosamine +
    beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan = UDP +
    alpha-N-acetyl-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan

         Genatlas biochemistry entry for EXTL2:
    EXT-like 2,ubiquitously expressed,alpha 1,4-N-acetylhexosamynyltransferase,transferring N-acetylgalactosamine to
    the common glycosaminoglycan protein linkage region most likely critical for the synthesis of heparin/heparan
    sulfate

         Enzyme Number (IUBMB): EC 2.4.1.2231

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001888glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA10318803
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0035248alpha-1,4-N-acetylgalactosaminyltransferase activity IDA10318803
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with EXTL2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for EXTL2:
     Decreased homologous recombina 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Extl2):
     cellular 

    Find genes that share phenotypes with EXTL2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Extl2tm1Hkit for EXTL2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EXTL2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EXTL2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EXTL2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EXTL2

    miRNA
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    miRTarBase miRNAs that target EXTL2:
    hsa-mir-215-5p (MIRT024420), hsa-mir-192-5p (MIRT026802)

    Block miRNA regulation of human, mouse, rat EXTL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EXTL2 (see all 20):
    hsa-miR-3910 hsa-miR-30c hsa-miR-502-5p hsa-miR-30d hsa-miR-132 hsa-miR-105 hsa-miR-124 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidEXTL2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EXTL2

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EXTL2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXTL2


    (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
    EXTL2_HUMAN, Q9UBQ6: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity)
    EXTL2_HUMAN, Q9UBQ6: Processed exostosin-like 2: Secreted. Note=A soluble form is found in the serum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular5
    golgi apparatus1
    lysosome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005783endoplasmic reticulum IDA10639137
    GO:0016021integral component of membrane IEA--
    GO:0031227intrinsic component of endoplasmic reticulum membrane IEA--

    Find genes that share ontologies with EXTL2           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 EXTL2 About    
    See pathways by source

    SuperPathContained pathways About
    1heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    heparan sulfate biosynthesis (late stages)0.00
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    2Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with EXTL2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for EXTL2
        heparan sulfate biosynthesis (late stages)
    heparan sulfate biosynthesis


    2 Kegg Pathways  (Kegg details for EXTL2):
        Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    Metabolic pathways

    UniProtKB/Swiss-Prot: EXTL2_HUMAN, Q9UBQ6
    Pathway: Glycan metabolism; heparan sulfate biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EXTL2
    Interactions:

        Search GeneGlobe Interaction Network for EXTL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for EXTL2 (ENSP000003591314) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GAT1ENSP000003078754STRING: ENSP00000307875
    B3GAT3ENSP000002654714STRING: ENSP00000265471
    EXT1ENSP000003674464STRING: ENSP00000367446
    EXT2ENSP000003426564STRING: ENSP00000342656
    B3GAT2ENSP000002300534STRING: ENSP00000230053
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006044N-acetylglucosamine metabolic process IDA10318803
    GO:0015012heparan sulfate proteoglycan biosynthetic process IEA--
    GO:0019276UDP-N-acetylgalactosamine metabolic process IDA10318803

    Find genes that share ontologies with EXTL2           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 EXTL2

    2 HMDB Compounds for EXTL2    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--

    3 DrugBank Compounds for EXTL2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Uridine-5'-Diphosphate-- 58-98-0target--17139284 17016423 10592235
    Uridine-Diphosphate-N-Acetylgalactosamine-- --target--17139284 17016423 10592235
    Uridine-Diphosphate-N-Acetylglucosamine-- --target--17139284 17016423 10592235

    2 Novoseek inferred chemical compound relationships for EXTL2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 80 9 11121397 (2), 11390981 (1), 17237233 (1), 16778156 (1) (see all 5)
    glucose 0 2 17113856 (1), 15831490 (1)



    Find genes that share compounds with EXTL2           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 EXTL2 gene (5 alternative transcripts): 
    NM_001033025.2  NM_001261440.1  NM_001261441.1  NM_001261442.1  NM_001439.3  

    Unigene Cluster for EXTL2:

    Exostosin-like glycosyltransferase 2
    Hs.357637  [show with all ESTs]
    Unigene Representative Sequence: BC045681
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370113 ENST00000370114(uc001dtk.1 uc001dtl.1 uc010ouk.1 uc001dtm.1)
    ENST00000450240 ENST00000416479 ENST00000494907 ENST00000480774 ENST00000535414

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    hsa-miR-3910 hsa-miR-30c hsa-miR-502-5p hsa-miR-30d hsa-miR-132 hsa-miR-105 hsa-miR-124 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidEXTL2 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat EXTL2
      QuantiFast Probe-based Assays in human, mouse, rat EXTL2

    Additional mRNA sequence: 

    AB009284.1 AF000416.1 AK001450.1 AK096914.1 AK298124.1 AK312895.1 BC014910.1 BC036015.1 
    BC045681.1 NR_048570.1 U76189.1 

    13 DOTS entries:

    DT.100026439  DT.87017002  DT.95268294  DT.95360153  DT.100663508  DT.100797786  DT.95268291  DT.121360040 
    DT.121360051  DT.92427632  DT.92037145  DT.92427631  DT.97806804 

    Selected AceView cDNA sequences (see all 177):

    AA846580 BI791894 AA625945 BM698603 CA417708 BP360465 CN480924 BX103291 
    AA431966 AF000416 BG576678 AA577463 N90076 AU133111 AK096914 NM_001439 
    AI417923 BM718000 BX403529 BU628278 AW204992 BF475509 BM450840 AI804298 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EXTL2 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b
    SP1:                                -     -     -                                       
    SP2:                    -           -     -     -                                       
    SP3:                    -           -     -     -                                       
    SP4:                                -     -                                             
    SP5:                    -           -     -                                             


    ECgene alternative splicing isoforms for EXTL2

    (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)
    About This Section

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    EXTL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTAATGTTC
    EXTL2 Expression
    About this image


    EXTL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    EXTL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EXTL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.357637

    UniProtKB/Swiss-Prot: EXTL2_HUMAN, Q9UBQ6
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for EXTL2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXTL2

    (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 eukaryotes.

    Orthologs for EXTL2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Extl21 , 5 exostoses (multiple)-like 21, 5 83.79(n)1
    87.23(a)1
      3 (50.17 cM)5
    581931  NM_001163514.11  NP_001156986.11 
     1160074625 
    chicken
    (Gallus gallus)
    Aves EXTL21 exostoses (multiple)-like 2 74.77(n)
    77.2(a)
      424465  XM_422308.3  XP_422308.2 
    lizard
    (Anolis carolinensis)
    Reptilia EXTL26
    exostosin-like glycosyltransferase 2
    80(a)
    1 ↔ 1
    4(87507858-87521157)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.199702 Xenopus laevis transcribed sequence with weak similarity more 74.64(n)    BG409836.1 
    zebrafish
    (Danio rerio)
    Actinopterygii extl21 exotoses (multiple)-like 2 62.24(n)
    64.29(a)
      558373  NM_001076561.1  NP_001070029.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ext26
    Ext2
    13(a)
    1 → many
    2R(12033411-12037121)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EPC11 EPC1 49.01(n)
    36.86(a)
      824749  NM_115441.3  NP_191142.1 


    ENSEMBL Gene Tree for EXTL2 (if available)
    TreeFam Gene Tree for EXTL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EXTL2 gene
    EXTL12  EXTL32  EXT12  EXT22  
    2 SIMAP similar genes for EXTL2 using alignment to 9 protein entries:     EXTL2_HUMAN (see all proteins):
    EXT2    EXTL3

    Find genes that share paralogs with EXTL2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for EXTL2
    PGOHUM00000241025


    (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 EXTL2 (see all 401)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1888525291,2
    --101337558(+) GCTACA/GTTGCA 6 -- ds50010--------
    rs1932747211,2
    --101337591(+) AGCCTA/GAGCAT 6 -- ds50010--------
    rs1402915991,2
    --101337633(+) GAGGCA/GTTCAG 6 -- ds50010--------
    rs1451077881,2
    --101337660(+) TAGGAA/GTCTAT 6 -- ds50010--------
    rs1389842261,2
    --101337702(+) GAACTG/TCACTT 6 -- ds50010--------
    rs1494267531,2
    --101337746(+) ACCATG/TATATG 6 -- ds50010--------
    rs1448566911,2
    --101337812(+) TTGGGA/GATATT 6 -- ds50010--------
    rs1481734351,2
    C--101337843(+) AATGTC/GTCTAC 6 -- ds50010--------
    rs1854193631,2
    --101337870(+) TATTAA/GAGTAT 6 -- ds50010--------
    rs792141261,2
    C,F--101337893(+) TGTGTA/GAGAAC 6 -- ds50011Minor allele frequency- G:0.02WA 118

    HapMap Linkage Disequilibrium report for EXTL2 (101337941 - 101361554 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EXTL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv522064CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EXTL2
    DNA2.0 Custom Variant and Variant Library Synthesis for EXTL2

    (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: 602411    OMIM disorders: --

    2 diseases for EXTL2:    
    About MalaCards
    hereditary multiple exostoses    exostosis

    1 disease from the University of Copenhagen DISEASES database for EXTL2:
    Exostosis

    Find genes that share disorders with EXTL2           About GenesLikeMe

    2 Novoseek inferred disease relationships for EXTL2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    exostoses multiple hereditary 93.2 3 11121397 (1), 17237233 (1), 9473480 (1)
    tumors 6.59 4 11121397 (1), 17237233 (1), 9473480 (1)


    Export disorders for EXTL2 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 EXTL2 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with EXTL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel member of the EXT gene family, EXTL2. (PubMed id 9450183)1, 2, 3, 9 Wuyts W.... Willems P.J. (Eur. J. Hum. Genet. 1997)
    2. Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. (PubMed id 9473480)1, 2, 9 Saito T....Hori T.-A. (Biochem. Biophys. Res. Commun. 1998)
    3. Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase. (PubMed id 15831490)1, 3, 9 Sobhany M....Negishi M. (J. Biol. Chem. 2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. (PubMed id 10639137)1, 2 McCormick C.... Tufaro F. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    6. The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N- acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate. (PubMed id 10318803)1, 2 Kitagawa H.... Sugahara K. (J. Biol. Chem. 1999)
    7. EXTL2, a member of the EXT family of tumor suppressors, controls glycosaminoglycan biosynthesis in a xylose kinase-dependent manner. (PubMed id 23395820)1 Nadanaka S....Kitagawa H. (J. Biol. Chem. 2013)
    8. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PubMed id 21833088)1  ....Compston A. (Nature 2011)
    9. Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses. (PubMed id 19690583)1 Kaidonis X....Byers S. (Eur. J. Hum. Genet. 2010)
    10. Drugs, their targets and the nature and number of drug targets. (PubMed id 17016423)7 Imming P....Meyer A. (Nat Rev Drug Discov 2006)

    (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: 2135 HGNC: 3516 AceView: EXTL2 Ensembl:ENSG00000162694 euGenes: HUgn2135
    ECgene: EXTL2 Kegg: 2135 H-InvDB: EXTL2

    (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 EXTL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EXTL2 Genetics and Cytogenetics in Oncology and Haematology
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=EXTL2
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_530

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EXTL2 gene:
    Search GeneIP for patents involving EXTL2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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