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

EXTL3 Gene

protein-coding   GIFtS: 66
GCID: GC08P028457

Exostosin-Like Glycosyltransferase 3

(Previous name: exostoses (multiple)-like 3)
Pneumococci & Pneumococcal Diseases Congress
  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 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   

Export aliases for EXTL3 gene to outside databases

Previous GC identifers: GC08P028342 GC08P029064 GC08P028581 GC08P028615 GC08P027104


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

Entrez Gene summary for 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 hereditary multiple exostoses, and rheumatic aortic valve stenosis, and among its related super-pathways are Glycosaminoglycan biosynthesis - heparan sulfate / heparin and Activation of Chaperones by IRE1alpha. GO annotations related to this gene include glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity and metal ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_167187.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EXTL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: EXTL3_HUMAN, O43909 (See protein sequence)
Recommended Name: Exostosin-like 3  
Size: 919 amino acids; 104749 Da
Subunit: Interacts with REG3A
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43909

  • EXTL3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EXTL3 Protein Expression
    REFSEQ proteins: NP_001431.1  
    ENSEMBL proteins: 
     ENSP00000428691   ENSP00000220562   ENSP00000431013   ENSP00000428352   ENSP00000429627  
     ENSP00000430652  
    Reactome Protein details: O43909
    Human Recombinant Protein Products for EXTL3: 
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    Cloud-Clone Corp. Proteins for EXTL3 

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

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

    EXTL3 for ontologies           About GeneDecksing



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    (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

    2 InterPro protein domains:
     IPR004263 Exostosin
     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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for EXTL3 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EXTL3 
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    SwitchGear 3'UTR luciferase reporter plasmidEXTL3 3' UTR sequence
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    (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 EXTL3 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
    2Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperones by IRE1alpha0.94
    Unfolded Protein Response0.76
    Activation of Chaperone Genes by XBP1(S)0.94
    3Metabolism
    Metabolic pathways0.40
    4Asparagine N-linked glycosylation
    Metabolism of proteins0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    4        Reactome Pathways for EXTL3
        Activation of Chaperone Genes by XBP1(S)
    Metabolism of proteins
    Activation of Chaperones by IRE1alpha
    Unfolded Protein Response


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EXTL3

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

    5/17 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 (GO ID links to tree view):    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 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

    EXTL3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about EXTL3

    (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 EXTL3 gene: 
    NM_001440.3  

    Unigene Clusters for EXTL3:

    Exostosin-like glycosyltransferase 3
    Hs.491354  [show with all ESTs], Hs.744019  [show with all ESTs]
    Unigene Representative Sequences: NM_001440, NR_073469
    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


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    Additional mRNA sequence: NR_073469.1 

    10 DOTS entries:

    DT.454751  DT.99949088  DT.75111484  DT.91857609  DT.91862903  DT.100710747  DT.100792357  DT.121464953 
    DT.121465001  DT.95080843 

    24/251 AceView cDNA sequences (see all 251):

    BM675931 AL046695 BU543682 U76188 AW194575 CK819018 CK000518 AI078494 
    BG910960 CB155096 BT007353 BM930902 AF001690 AU140433 AF029231 BM743125 
    BU684862 BF916623 AF083551 AB011091 M79217 AL699425 AA448030 BF725639 

    GeneLoc Exon Structure

    5/7 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™, 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

    EXTL3 expression in normal human tissues (normalized intensities)      EXTL3 embryonic expression: see
    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 
     5/23 selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             heart/valve   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             spinal/ganglion/dorsal root ganglion   

    See EXTL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EXTL3

    SOURCE GeneReport for Unigene clusters: Hs.491354 Hs.744019

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

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for EXTL3 gene from 6/14 species (see all 14)    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 79.18(n)
    90.86(a)
      422022  XM_420030.3  XP_420030.2 
    lizard
    (Anolis carolinensis)
    Reptilia EXTL36
    Uncharacterized protein
    91(a)
    1 ↔ 1
    GL343333.1(972781-1089524)
    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
    55.9(n)1
    53.51(a)1
      56B53
    371981  NM_079066.21  NP_523790.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rib-21 , 3 MULTIPLE EXOSTOSES HOMOLOG 23
    Protein RIB-21
    34(a)3
    46.26(n)1
    39.04(a)1
      III(10814522-10818173)3
    1765021  NM_066967.51  NP_499368.11 


    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)
    About This Section
    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) 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

    10/1137 SNPs in EXTL3 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605744    OMIM disorders: --

    14 diseases for EXTL3:    About MalaCards
    hereditary multiple exostoses    rheumatic aortic valve stenosis    exostosis    trichomoniasis
    gonorrhea    syphilis    human immunodeficiency virus infectious disease    aortic valve stenosis
    retinal degeneration    retinitis    colorectal cancer    pancreatitis
    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


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    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)
    About This Section

    PubMed articles for EXTL3 gene, integrated from 9 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. (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. (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. (1998)
    4. The antimicrobial protein REG3A regulates keratinocyte proliferation and differentiation after skin injury. (PubMed id 22727489)1, 2 Lai Y....Gallo R.L. (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. (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. (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. (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. (2001)
    9. EXTL3/EXTR1 alterations in colorectal cancer cell lines. (PubMed id 10536173)1, 9 Arai T....Yuasa Y. (1999)
    10. Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation. (PubMed id 17761672)1, 9 Busse M....Kusche-Gullberg M. (2007)

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

    (According to HUGE)
    About This Section
    HUGE: KIAA0519

    (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 EXTL3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EXTL3 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_531

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

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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