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EXTL3 Gene

protein-coding   GIFtS: 68
GCID: GC08P028457

Exostosin-Like Glycosyltransferase 3

(Previous name: exostoses (multiple)-like 3)
  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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Exostosin-Like Glycosyltransferase 31 2     REGR2
Glucuronyl-Galactosyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase1 2 3     RPR2
EXTR12 3 5     Exostosin Tumor-Like 32
Exostoses (Multiple)-Like 31 2     Exostosin-Like 32
REG Receptor1 2     EXT-Related 12
Hereditary Multiple Exostoses Gene Isolog2 3     EC 2.4.1.2233
Putative Tumor Suppressor Protein EXTL32 3     KIAA05193
EXTL1L2 3     EXT-Related Protein 13
BOTV2     Multiple Exostosis-Like Protein 33

External Ids:    HGNC: 35181   Entrez Gene: 21372   Ensembl: ENSG000000122327   OMIM: 6057445   UniProtKB: O439093   
ORGUL members:         

Export aliases for EXTL3 gene to outside databases

Previous GC identifers: GC08P028342 GC08P029064 GC08P028581 GC08P028615 GC08P027104


(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 EXTL3 Gene:
This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein
catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin
and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. (provided by
RefSeq, Nov 2012)

GeneCards Summary for EXTL3 Gene:
EXTL3 (exostosin-like glycosyltransferase 3) is a protein-coding gene. Diseases associated with EXTL3 include rheumatic aortic valve stenosis, and aortic valve stenosis. GO annotations related to this gene include glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. An important paralog of this gene is EXTL1.

UniProtKB/Swiss-Prot: EXTL3_HUMAN, O43909
Function: Probable glycosyltransferase (By similarity). Required for the function of REG3A in regulating
keratinocyte proliferation and differentiation

Gene Wiki entry for EXTL3 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:
NC_000008.11  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EXTL3 gene promoter:
         STAT1   p53   NRSF form 1   Lmo2   HNF-3beta   NRSF form 2   Egr-4   Nkx6-1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEXTL3 promoter sequence
   Search Chromatin IP Primers for EXTL3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EXTL3


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

Entrez Gene cytogenetic band: 8p21   Ensembl cytogenetic band:  8p21.1   HGNC cytogenetic band: 8p22-p12

EXTL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXTL3 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P028457:  view genomic region     (about GC identifiers)

Start:
28,457,986 bp from pter      End:
28,613,116 bp from pter
Size:
155,131 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, 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., 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: EXTL3_HUMAN, O43909 (See protein sequence)
Recommended Name: Exostosin-like 3  
Size: 919 amino acids; 104749 Da
Subunit: Interacts with REG3A
Caution: It is uncertain whether Met-1, Met-6 or Met-20 is the initiator
Sequence caution: Sequence=BAA25445.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: D3DST8 O00225 Q53XT3

Explore the universe of human proteins at neXtProt for EXTL3: NX_O43909

Explore proteomics data for EXTL3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn277, Asn290, Asn592, Asn790
  • Modification sites at PhosphoSitePlus

  • See EXTL3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001431.1  
    ENSEMBL proteins: 
     ENSP00000428691   ENSP00000220562   ENSP00000431013   ENSP00000428352   ENSP00000429627  
     ENSP00000430652  
    Reactome Protein details: O43909

    EXTL3 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for EXTL3

    EXTL3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    EXTL3 Assay Products:

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    Cloud-Clone Corp. CLIAs for EXTL3


    (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
     IPR027674 EXO3/EXOL3
     IPR015338 HexNAc_Trfase_a

    Graphical View of Domain Structure for InterPro Entry O43909

    ProtoNet protein and cluster: O43909

    1 Blocks protein domain: IPB004263 Exostosin-like

    UniProtKB/Swiss-Prot: EXTL3_HUMAN, O43909
    Similarity: Belongs to the glycosyltransferase 47 family


    EXTL3 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EXTL3_HUMAN, O43909
    Function: Probable glycosyltransferase (By similarity). Required for the function of REG3A in regulating
    keratinocyte proliferation and differentiation
    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 EXTL3:
    EXT-like 3,ubiquitously expressed (see TSG8D)

         Enzyme Number (IUBMB): EC 2.4.1.2231

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001888glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA--
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0046872metal ion binding IEA--
         
    EXTL3 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for EXTL3:
     Decreased number of cells in m  Increased G2M DNA content  Upregulation of Wnt/beta-caten 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Extl3):
     cellular  endocrine/exocrine gland  homeostasis/metabolism  mortality/aging 

    EXTL3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Extl3tm1.1Okam for EXTL3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EXTL3
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EXTL3

    miRNA
    Products:
        
    miRTarBase miRNAs that target EXTL3:
    hsa-mir-125b-5p (MIRT046048), hsa-mir-99a-5p (MIRT048650), hsa-mir-10a-5p (MIRT047509), hsa-mir-500a-5p (MIRT037996), hsa-mir-335-5p (MIRT018750), hsa-mir-10b-5p (MIRT047402)

    Block miRNA regulation of human, mouse, rat EXTL3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EXTL3 (see all 47):
    hsa-miR-136 hsa-miR-3194-5p hsa-miR-15a hsa-miR-503 hsa-miR-218 hsa-miR-3667-5p hsa-miR-424 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidEXTL3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EXTL3

    Gene Editing
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    Sino Biological Human cDNA Clone for EXTL3
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EXTL3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXTL3


    (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
    EXTL3_HUMAN, O43909: Endoplasmic reticulum membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane2
    cytosol1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA10639137
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0031227intrinsic component of endoplasmic reticulum membrane IEA--

    EXTL3 for ontologies           About GeneDecksing


    (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 EXTL3 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
    2Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    3Metabolism
    Metabolic pathways0.38
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for EXTL3
        heparan sulfate biosynthesis (late stages)
    heparan sulfate biosynthesis


    1 Reactome Pathway for EXTL3
        XBP1(S) activates chaperone genes


    2 Kegg Pathways  (Kegg details for EXTL3):
        Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    Metabolic pathways

    UniProtKB/Swiss-Prot: EXTL3_HUMAN, O43909
    Pathway: Glycan metabolism; heparan sulfate biosynthesis


    EXTL3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EXTL3
    Interactions:

        Search GeneGlobe Interaction Network for EXTL3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for EXTL3 (O439093 ENSP000002205624) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLEKHA5Q9HAU03, ENSP000002992754I2D: score=3 STRING: ENSP00000299275
    CRKP461083, ENSP000003005744I2D: score=1 STRING: ENSP00000300574
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    PIK3R1P279863, ENSP000002743354I2D: score=1 STRING: ENSP00000274335
    PLCG1P191743, ENSP000002440074I2D: score=1 STRING: ENSP00000244007
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0015012heparan sulfate proteoglycan biosynthetic process IEA--
    GO:0030307positive regulation of cell growth IEA--
    GO:0030968endoplasmic reticulum unfolded protein response TAS--
    GO:0044267cellular protein metabolic process TAS--

    EXTL3 for ontologies           About GeneDecksing



    (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 EXTL3

    2 HMDB Compounds for EXTL3    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 Novoseek inferred chemical compound relationships for EXTL3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ecdysone 70.8 4 11880355 (1), 18757938 (1), 20063412 (1)
    heparan sulfate 59.4 7 11390981 (3), 17761672 (2), 17237233 (1)
    steroid 27.3 2 18757938 (1), 20063412 (1)



    EXTL3 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EXTL3 gene: 
    NM_001440.3  

    Unigene Cluster for EXTL3:

    Exostosin-like glycosyltransferase 3
    Hs.491354  [show with all ESTs]
    Unigene Representative Sequence: NM_001440
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522725 ENST00000523149 ENST00000519288 ENST00000520940 ENST00000454906
    ENST00000220562(uc003xgz.1) ENST00000519886 ENST00000518223 ENST00000521532
    ENST00000522698 ENST00000521473 ENST00000517738 ENST00000523271 ENST00000520679

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate EXTL3 (see all 47):
    hsa-miR-136 hsa-miR-3194-5p hsa-miR-15a hsa-miR-503 hsa-miR-218 hsa-miR-3667-5p hsa-miR-424 hsa-miR-9
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      QuantiTect SYBR Green Assays in human, mouse, rat EXTL3
      QuantiFast Probe-based Assays in human, mouse, rat EXTL3

    Additional mRNA sequence: 

    AB007042.1 AB011091.1 AF001690.1 AF029231.1 AF083551.1 AK294475.1 BC006363.2 BT007353.1 
    NR_073468.1 U76188.1 

    8 DOTS entries:

    DT.454751  DT.99949088  DT.75111484  DT.91862903  DT.100792357  DT.121464953  DT.121465001  DT.100710747 

    Selected AceView cDNA sequences (see all 251):

    BF916623 BM675931 BE857705 AU133145 AI312737 AW014479 BM930902 BM743125 
    BU160482 T35773 AW194575 CK000518 AA448030 AL707181 AL046695 BP348763 
    BU850022 BM739413 BU930929 BM746332 BE879757 CK819018 BF725639 BU543682 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EXTL3 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b
    SP1:              -           -                                                           -                           
    SP2:                                                        -                                                         
    SP3:                                                                          -     -     -                           
    SP4:              -           -                       -     -     -     -     -     -     -     -     -               
    SP5:                          -                                                                                       


    ECgene alternative splicing isoforms for EXTL3

    (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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    EXTL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCACGTCCAT
    EXTL3 Expression
    About this image


    EXTL3 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 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    EXTL3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EXTL3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.491354

    UniProtKB/Swiss-Prot: EXTL3_HUMAN, O43909
    Tissue specificity: Ubiquitous. Expressed in keratinocytes

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    QuantiFast Probe-based Assays in human, mouse, rat EXTL3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXTL3

    (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 EXTL3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Extl31 , 5 exostoses (multiple)-like 31, 5 88.54(n)1
    97.39(a)1
      14 (33.86 cM)5
    546161  NM_018788.31  NP_061258.21 
     650520605 
    chicken
    (Gallus gallus)
    Aves EXTL31 exostoses (multiple)-like 3 79.22(n)
    90.86(a)
      422022  XM_420030.4  XP_420030.2 
    lizard
    (Anolis carolinensis)
    Reptilia EXTL36
    exostosin-like glycosyltransferase 3
    91(a)
    1 ↔ 1
    GL343333.1(972781-1089524)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia extl31 exostosin-like glycosyltransferase 3 76.1(n)
    88.36(a)
      493398  NM_001008035.1  NP_001008036.1 
    zebrafish
    (Danio rerio)
    Actinopterygii extl31 exostoses (multiple)-like 3 72.12(n)
    83.53(a)
      493783  NM_001008402.1  NP_001008402.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta botv1 , 3 heparan sulfate proteoglycan
    biosynthesis
    acetylglucosaminyltransferase3
    brother of tout-velu1
    51(a)3
    55.96(n)1
    53.39(a)1
      56B53
    371981  NM_079066.21  NP_523790.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rib-23 MULTIPLE EXOSTOSES HOMOLOG 2 34(a)   III(10814522-10818173)   --


    ENSEMBL Gene Tree for EXTL3 (if available)
    TreeFam Gene Tree for EXTL3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EXTL3 gene
    EXTL12  EXTL22  EXT12  EXT22  
    3 SIMAP similar genes for EXTL3 using alignment to 6 protein entries:     EXTL3_HUMAN (see all proteins):
    DKFZp686C2342    EXTL2    EXT2

    EXTL3 for paralogs           About GeneDecksing



    (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 EXTL3 (see all 1137)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1863160811,2
    --28557140(+) CCTGCC/TTCAGC 3 -- us2k10--------
    rs1485756711,2
    C--28557159(+) TAGCTC/GGGATT 3 -- us2k10--------
    rs1923745531,2
    --28557174(+) GCACGC/GGCCAC 3 -- us2k10--------
    rs339363971,2
    C--28557377(+) GTGTTAA/-GTTAC 3 -- us2k11Minor allele frequency- -:0.50NA 2
    rs1425195311,2
    --28557392(+) AACGTA/CAAAGA 3 -- us2k10--------
    rs286968961,2
    C--28557421(+) AGGTAA/CCTGCA 3 -- us2k13Minor allele frequency- C:0.20NA WA 122
    rs1509244421,2
    C--28557430(+) CACGTC/TCTCTC 3 -- us2k10--------
    rs1407801411,2
    --28557482(+) TGTCTG/TCTGTG 3 -- us2k10--------
    rs587527871,2
    C--28557566(+) CTGTT-/AAAAAA 3 -- us2k11Minor allele frequency- A:0.50NA 2
    rs285391121,2
    C--28557581(+) AAAAAT/ATTATG 3 -- us2k1 trp31Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for EXTL3 (28457986 - 28613116 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EXTL3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1008413CNV Deletion20482838

    Human Gene Mutation Database (HGMD): EXTL3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EXTL3
    DNA2.0 Custom Variant and Variant Library Synthesis for EXTL3

    (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: 605744    OMIM disorders: --

    20 diseases for EXTL3:    
    About MalaCards
    rheumatic aortic valve stenosis    aortic valve stenosis    hereditary multiple exostoses    exostosis
    trichomoniasis    yaws    gonorrhea    human immunodeficiency virus infectious disease
    syphilis    mucopolysaccharidoses    retinal degeneration    labyrinthitis
    epididymitis    retinitis    colorectal cancer    malaria
    pancreatitis    cerebritis    breast cancer    neuronitis

    6 diseases from the University of Copenhagen DISEASES database for EXTL3:
    Syphilis     Gonorrhea     Exostosis     Yaws
    Trichomoniasis     Human immunodeficiency virus infectious disease

    EXTL3 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for EXTL3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    exostoses multiple hereditary 84.3 2 17237233 (1), 9473480 (1)
    tumors 6.33 11 10536173 (2), 11257457 (1), 11390981 (1), 9473480 (1) (see all 7)


    Export disorders for EXTL3 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 EXTL3 gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with EXTL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. (PubMed id 9479495)1, 2, 3, 9 van Hul W.... Willems P.J. (Genomics 1998)
    2. Overexpression of EXTL3/EXTR1 enhances NF-kappaB activity induced by TNF-alpha. (PubMed id 11257457)1, 3, 9 Mizuno K....Sato T.A. (Cell. Signal. 2001)
    3. 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)
    4. The antimicrobial protein REG3A regulates keratinocyte proliferation and differentiation after skin injury. (PubMed id 22727489)1, 2 Lai Y.... Gallo R.L. (Immunity 2012)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. 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)
    7. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (DNA Res. 1998)
    8. Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis. (PubMed id 11390981)1, 9 Kim B.T....Sugahara K. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    9. EXTL3/EXTR1 alterations in colorectal cancer cell lines. (PubMed id 10536173)1, 9 Arai T....Yuasa Y. (Int. J. Oncol. 1999)
    10. Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation. (PubMed id 17761672)1, 9 Busse M....Kusche-Gullberg M. (J. Biol. Chem. 2007)

    (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: 2137 HGNC: 3518 AceView: EXTL3 Ensembl:ENSG00000012232 euGenes: HUgn2137
    ECgene: EXTL3 Kegg: 2137 H-InvDB: EXTL3

    (According to HUGE)
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    HUGE: KIAA0519

    (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 EXTL3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EXTL3 Genetics and Cytogenetics in Oncology and Haematology
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=EXTL3
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_531

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EXTL3 gene:
    Search GeneIP for patents involving EXTL3

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



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