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

EXTL2 Gene

protein-coding   GIFtS: 59
GCID: GC01M101337

Exostosin-Like Glycosyltransferase 2

(Previous name: exostoses (multiple)-like 2)
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Glycosaminoglycan biosynthesis - heparan sulfate / heparin and Metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EXTL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EXTL2_HUMAN, Q9UBQ6 (See protein sequence)
Recommended Name: Exostosin-like 2  
Size: 330 amino acids; 37466 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity)
Subcellular location: Processed exostosin-like 2: Secreted. Note=A soluble form is found in the serum
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:

  • UniProtKB: The soluble form derives from the membrane form by proteolytic processing
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBQ6

  • EXTL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EXTL2 Protein Expression
    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  

    Human Recombinant Protein Products for EXTL2: 
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    Novus Biologicals EXTL2 Protein
    Novus Biologicals EXTL2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EXTL2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    EXTL2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for EXTL2 
    Cloud-Clone Corp. CLIAs for EXTL2


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

    1 InterPro protein domain:
     IPR015338 HexNAc_Trfase_a

    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


    EXTL2 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    EXTL2 for ontologies           About GeneDecksing


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

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

    EXTL2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Extl2tm1Hkit for EXTL2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EXTL2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    SwitchGear 3'UTR luciferase reporter plasmidEXTL2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXTL2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EXTL2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    heparan sulfate biosynthesis (late stages)0.77
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    2Metabolism
    Metabolic pathways0.40

    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


    EXTL2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EXTL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for EXTL2 (ENSP000003591314) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

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

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    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

    EXTL2 for ontologies           About GeneDecksing



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

    EXTL2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about EXTL2

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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 

    24/177 AceView cDNA sequences (see all 177):

    AU133111 AA846580 BX103291 BM450840 BF475509 AW204992 CA417708 BM728368 
    AA577463 AB009284 BC014910 AF000416 BG576678 N90076 BP358086 BM718000 
    BQ575354 AI417923 AA625945 CR624682 AA431966 AU130571 BM263240 AI804298 

    GeneLoc Exon Structure

    5/8 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™, 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

    EXTL2 expression in normal human tissues (normalized intensities)      EXTL2 embryonic expression: see
    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 
     5/31 selected tissues (see all 31) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus (Reproductive System)    fully expand to see all 4 entries
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Epithelium
             oral mucosa ; squamous epithelial cells   

    See EXTL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EXTL2

    SOURCE GeneReport for Unigene cluster: Hs.357637

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

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EXTL2 gene from 7/14 species (see all 14)    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_422308.2  XP_422308.2 
    lizard
    (Anolis carolinensis)
    Reptilia EXTL26
    Uncharacterized protein
    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 61.46(n)
    63.44(a)
      558373  NM_001076561.1  NP_001070029.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EPC11 nucleotide-diphospho-sugar transferase-like protein 49.15(n)
    36.44(a)
      824749  NM_115441.3  NP_191142.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g07050001 hypothetical protein 44.23(n)
    37.18(a)
      9267681  NM_001188056.1  NP_001174985.1 


    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)
    About This Section
    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

    EXTL2 for paralogs           About GeneDecksing


    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) 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

    10/401 SNPs in EXTL2 are shown (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

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EXTL2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602411    OMIM disorders: --

    3 diseases for EXTL2:    About MalaCards
    hereditary multiple exostoses    exostosis    multiple sclerosis

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

    EXTL2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for EXTL2 gene, integrated from 9 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. (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. (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. (2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (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. (2013)
    8. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1  ....Compston A. (2011)
    9. Gene silencing of EXTL2 and EXTL3 as a substrate depr ivation therapy for heparan sulphate storing mucopolysaccharidoses. (PubMed id 19690583)1 Kaidonis X....Byers S. (2010)
    10. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2135 HGNC: 3516 AceView: EXTL2 Ensembl:ENSG00000162694 euGenes: HUgn2135
    ECgene: EXTL2 Kegg: 2135 H-InvDB: EXTL2

    (According to HUGE)
    About This Section
      --

    (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 EXTL2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EXTL2 Genetics and Cytogenetics in Oncology and Haematology
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    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.)
    About This Section
    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



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