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EDIL3 Gene

protein-coding   GIFtS: 59
GCID: GC05M083236

EGF-Like Repeats And Discoidin I-Like Domains 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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Aliases
EGF-Like Repeats And Discoidin I-Like Domains 31 2
Developmentally-Regulated Endothelial Cell Locus 1 Protein2 3
Integrin-Binding Protein DEL12 3
DEL12 3
Developmental Endothelial Locus-12
EGF-Like Repeat And Discoidin I-Like Domain-Containing Protein 32

External Ids:    HGNC: 31731   Entrez Gene: 100852   Ensembl: ENSG000001641767   OMIM: 6060185   UniProtKB: O438543   

Export aliases for EDIL3 gene to outside databases

Previous GC identifers: GC05M082056 GC05M083465 GC05M083277 GC05M083322 GC05M083320 GC05M083272 GC05M078445


(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 EDIL3 Gene:
The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and
may be important in vessel wall remodeling and development. It also influences endothelial cell behavior.
(provided by RefSeq, Jul 2008)

GeneCards Summary for EDIL3 Gene:
EDIL3 (EGF-like repeats and discoidin I-like domains 3) is a protein-coding gene. Diseases associated with EDIL3 include endotheliitis, and spondylitis. GO annotations related to this gene include integrin binding and calcium ion binding. An important paralog of this gene is DCBLD1.

UniProtKB/Swiss-Prot: EDIL3_HUMAN, O43854
Function: Promotes adhesion of endothelial cells through interaction with the alpha-v/beta-3 integrin receptor.
Inhibits formation of vascular-like structures. May be involved in regulation of vascular morphogenesis of
remodeling in embryonic development




(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_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the EDIL3 gene promoter:
         Oct-B1   HFH-3   oct-B3   oct-B2   CUTL1   Roaz   FOXI1   AREB6   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEDIL3 promoter sequence
   Search Chromatin IP Primers for EDIL3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EDIL3


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

Entrez Gene cytogenetic band: 5q14   Ensembl cytogenetic band:  5q14.3   HGNC cytogenetic band: 5q14

EDIL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EDIL3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M083236:  view genomic region     (about GC identifiers)

Start:
83,236,373 bp from pter      End:
83,680,611 bp from pter
Size:
444,239 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EDIL3_HUMAN, O43854 (See protein sequence)
Recommended Name: EGF-like repeat and discoidin I-like domain-containing protein 3 precursor  
Size: 480 amino acids; 53765 Da
1 PDB 3D structure from and Proteopedia for EDIL3:
4D90 (3D)    
Secondary accessions: B2R763 O43855 Q5D094 Q8N610
Alternative splicing: 2 isoforms:  O43854-1   O43854-2   

Explore the universe of human proteins at neXtProt for EDIL3: NX_O43854

Explore proteomics data for EDIL3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys244
  • Glycosylation2 at Thr73, Thr88, Asn140, Thr336
  • Modification sites at PhosphoSitePlus

  • See EDIL3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001265571.1  NP_005702.3  

    ENSEMBL proteins: 
     ENSP00000296591   ENSP00000369483  

    EDIL3 Human Recombinant Protein Products:

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    Novus Biologicals EDIL3 Proteins
    Novus Biologicals EDIL3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for EDIL3

    EDIL3 Antibody Products:

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    EDIL3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for EDIL3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR001881 EGF-like_Ca-bd_dom
     IPR000742 EG-like_dom
     IPR013032 EGF-like_CS
     IPR000421 Coagulation_fac_5/8-C_type_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site

    Graphical View of Domain Structure for InterPro Entry O43854

    ProtoNet protein and cluster: O43854

    3 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000421 Coagulation factor 5/8 type C domain (FA58C)
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: EDIL3_HUMAN, O43854
    Domain: EGF2 and EGF3 form a rigid rod via an interdomain calcium ion binding site, while the long linker between
    EGF1 and EGF2 lends considerable flexibility to EGF1
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 2 F5/8 type C domains


    EDIL3 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: EDIL3_HUMAN, O43854
    Function: Promotes adhesion of endothelial cells through interaction with the alpha-v/beta-3 integrin receptor.
    Inhibits formation of vascular-like structures. May be involved in regulation of vascular morphogenesis of
    remodeling in embryonic development

         Genatlas biochemistry entry for EDIL3:
    EGF-like repeats and discoidin I-like domains 3,homolog to mouse Del1,initially expressed in the endothelial
    progenitor and in embryonic mesenchymal cells,promoting the adhesion of endothelial cells through interaction
    with the AVB3 integrin receptor,putative regulator of vascular morphogenesis or remodeling in embryonic
    development

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding TAS9420328
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    EDIL3 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Edil3):
     cellular  hematopoietic system  immune system  normal 

    EDIL3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EDIL3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EDIL3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EDIL3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EDIL3

    miRNA
    Products:
        
    miRTarBase miRNAs that target EDIL3:
    hsa-mir-21-5p (MIRT030686)

    Block miRNA regulation of human, mouse, rat EDIL3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EDIL3 (see all 16):
    hsa-miR-217 hsa-miR-433 hsa-miR-3685 hsa-miR-548d-3p hsa-miR-137 hsa-miR-513a-5p hsa-miR-374b hsa-miR-548s
    SwitchGear 3'UTR luciferase reporter plasmidEDIL3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EDIL3
    Predesigned siRNA for gene silencing in human, mouse, rat EDIL3

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for EDIL3

    Clone
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    OriGene ORF clones in mouse, rat for EDIL3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EDIL3 (NM_005711)
    Sino Biological Human cDNA Clone for EDIL3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EDIL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDIL3

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for EDIL3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDIL3


    (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
    EDIL3_HUMAN, O43854: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    endoplasmic reticulum1
    lysosome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0070062extracellular vesicular exosome IDA--

    EDIL3 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 EDIL3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Integrins in angiogenesis
    Integrins in angiogenesis


    1 BioSystems Pathway for EDIL3
        Integrins in angiogenesis



        Pathway & Disease-focused RT2 Profiler PCR Array including EDIL3: 
              Angiogenic Growth Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for EDIL3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for EDIL3 (O438543 ENSP000002965914) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGAVP067563, ENSP000002610234I2D: score=1 STRING: ENSP00000261023
    ITGB5ENSP000002961814STRING: ENSP00000296181
    --ENSP000002620174STRING: ENSP00000262017
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0010811positive regulation of cell-substrate adhesion IEA--

    EDIL3 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 EDIL3



    (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,
    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 EDIL3 gene (2 alternative transcripts): 
    NM_001278642.1  NM_005711.4  

    Unigene Cluster for EDIL3:

    EGF-like repeats and discoidin I-like domains 3
    Hs.482730  [show with all ESTs]
    Unigene Representative Sequence: BX648583
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296591(uc003kio.1 uc003kip.1) ENST00000380138 ENST00000510271(uc011ctt.1)
    ENST00000507663
    miRNA
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    Block miRNA regulation of human, mouse, rat EDIL3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EDIL3 (see all 16):
    hsa-miR-217 hsa-miR-433 hsa-miR-3685 hsa-miR-548d-3p hsa-miR-137 hsa-miR-513a-5p hsa-miR-374b hsa-miR-548s
    SwitchGear 3'UTR luciferase reporter plasmidEDIL3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EDIL3
    Predesigned siRNA for gene silencing in human, mouse, rat EDIL3
    Clone
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    OriGene clones in human, mouse for EDIL3 (see all 7)
    OriGene ORF clones in mouse, rat for EDIL3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EDIL3 (NM_005711)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EDIL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDIL3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for EDIL3
    OriGene qSTAR qPCR primer pairs in human, mouse for EDIL3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EDIL3
      QuantiTect SYBR Green Assays in human, mouse, rat EDIL3
      QuantiFast Probe-based Assays in human, mouse, rat EDIL3

    Additional mRNA sequence: 

    AK302942.1 AK312858.1 BC030828.1 BC053656.1 BX648583.1 U70312.1 U70313.1 

    6 DOTS entries:

    DT.91777446  DT.100001530  DT.97860119  DT.91637882  DT.100830870  DT.425799 

    Selected AceView cDNA sequences (see all 174):

    CD654559 BX952210 BC030828 CB961138 BC053656 AA247424 AW296259 N73713 
    AA256268 AA137140 AW150861 AA643796 AA348340 AL119254 N99433 BQ100929 
    BM921633 BM665960 AU279984 U70313 BQ100820 BP343420 BQ438961 CD652646 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for EDIL3    About this scheme

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


    ECgene alternative splicing isoforms for EDIL3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EDIL3 expression in normal human tissues (normalized intensities)      EDIL3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAATTTTAC
    EDIL3 Expression
    About this image


    EDIL3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Primitive Heart Tube Cells Primitive Heart Tube
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     NULL (Uncategorized)
             Neural rosettes
    EDIL3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EDIL3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.482730
        Pathway & Disease-focused RT2 Profiler PCR Array including EDIL3: 
              Angiogenic Growth Factors in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EDIL3
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    QuantiFast Probe-based Assays in human, mouse, rat EDIL3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDIL3

    (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 chordates.

    Orthologs for EDIL3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Edil31 , 5 EGF-like repeats and discoidin I-like domains 31, 5 89.79(n)1
    95.62(a)1
      13 (45.30 cM)5
    136121  NM_001037987.31  NP_001033076.11 
     888214725 
    chicken
    (Gallus gallus)
    Aves EDIL31 EGF-like repeats and discoidin I-like domains 3 82.01(n)
    90(a)
      427326  XM_424906.4  XP_424906.3 
    lizard
    (Anolis carolinensis)
    Reptilia EDIL36
    EGF-like repeats and discoidin I-like domains 3
    92(a)
    1 ↔ 1
    2(18973280-19366485)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.73872 Xenopus laevis transcribed sequence with weak similarity to protein prf2211263A (H.sapiens) 2211263A breast epithelial BA46 antigen [Homo sapiens] less 76.11(n)    BG729813.1 
    zebrafish
    (Danio rerio)
    Actinopterygii edil31 EGF-like repeats and discoidin I-like domains 3 78.37(n)
    89.42(a)
      793444  XM_005165250.1  XP_005165307.1 


    ENSEMBL Gene Tree for EDIL3 (if available)
    TreeFam Gene Tree for EDIL3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EDIL3 gene
    DCBLD12  NRP22  MFGE82  DCBLD22  F82  NRP12  F52  RS12  
    5 SIMAP similar genes for EDIL3 using alignment to 1 protein entry:     EDIL3_HUMAN:
    SPAG10    MFGE8    CNTNAP2    F5    RS1

    EDIL3 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 EDIL3 (see all 8212)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1812451291,2
    --83237747(+) AAGACA/CGTAAC 1 -- ds50010--------
    rs119510361,2
    C,H--83237801(+) AAATAG/CCAGTG 1 -- ds5001 ese34Minor allele frequency- C:0.00NS EA 418
    rs1442843281,2
    --83237817(+) TAGGAC/TCTTAA 1 -- ds50010--------
    rs1127273581,2
    C--83237921(+) GCTTAC/TAAATT 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1148190291,2
    F--83238083(+) AAATGG/TTTTAC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1853541451,2
    --83238089(+) TTTACA/TACTTT 1 -- ds50010--------
    rs104738801,2
    C,F--83238233(+) GCTTGG/ACCAAA 1 -- ut319Minor allele frequency- A:0.34NA WA CSA EA 369
    rs92933601,2
    C,F,A,H--83238236(+) TGGCCG/AAACTA 1 -- ut3118Minor allele frequency- A:0.35NS EA NA WA CSA 800
    rs1894662081,2
    --83238367(+) GACATA/GTATAT 1 -- ut310--------
    rs1806975651,2
    --83238370(+) ATATAC/TATTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for EDIL3 (83236373 - 83486373 bp, first 250kb of EDIL3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EDIL3 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661836CNV Deletion23128226
    esv2657400CNV Deletion23128226
    esv2658431CNV Deletion23128226
    esv2730404CNV Deletion23290073
    esv2120037CNV Deletion18987734
    esv2676239CNV Deletion23128226
    esv2730405CNV Deletion23290073
    nsv4905CNV Insertion18451855
    nsv882249CNV Loss21882294
    nsv525596CNV Loss19592680

    Human Gene Mutation Database (HGMD): EDIL3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EDIL3
    DNA2.0 Custom Variant and Variant Library Synthesis for EDIL3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606018    OMIM disorders: --

    6 diseases for EDIL3:    About MalaCards
    endotheliitis    spondylitis    ankylosing spondylitis    ischemia
    obesity    cerebritis


    EDIL3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): EDIL3
    Human Genome Epidemiology (HuGE) Navigator: EDIL3 (6 documents)

    Export disorders for EDIL3 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 EDIL3 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with EDIL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of developmental endothelial locus-1: an embryonic endothelial cell protein that binds the alphavbeta3 integrin receptor. (PubMed id 9420328)1, 2, 3 Hidai C.... Quertermous T. (Genes Dev. 1998)
    2. The RGD finger of Del-1 is a unique structural feature critical for integrin binding. (PubMed id 22601780)1, 2 SchA1rpf T....Wang J.H. (FASEB J. 2012)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. A genome-wide study reveals copy number variants exclusive to childhood obesity cases. (PubMed id 20950786)1, 4 Glessner J.T....Grant S.F. (Am. J. Hum. Genet. 2010)
    5. Chemerin, a novel adipokine in the regulation of angiogenesis. (PubMed id 20237162)1, 4 Bozaoglu K....Jowett J.B. (J. Clin. Endocrinol. Metab. 2010)
    6. The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations. (PubMed id 19578876)1, 4 Johnson M.P....Moses E.K. (Hum. Genet. 2009)
    7. Del1 mediates VSMC adhesion, migration, and proliferation through interaction with integrin alpha(v)beta(3). (PubMed id 11959660)1, 9 Rezaee M....Quertermous T. (Am. J. Physiol. Heart Circ. Physiol. 2002)
    8. The role of adhesion molecules, alpha v beta 3, alpha v beta 5 and their ligands in the tumor cell and endothelial cell adhesion. (PubMed id 18090124)1, 9 Niu J.X....Lou J.N. (Eur. J. Cancer Prev. 2007)
    9. Genome-wide association study identifies loci affecting blood copper, selenium and zinc. (PubMed id 23720494)1 Evans D.M....Whitfield J.B. (Hum. Mol. Genet. 2013)
    10. Role of the endothelial-derived endogenous anti-inflammatory factor Del-1 in inflammation-mediated adrenal gland dysfunction. (PubMed id 23364949)1 Kanczkowski W....Chavakis T. (Endocrinology 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 10085 HGNC: 3173 AceView: EDIL3 Ensembl:ENSG00000164176 euGenes: HUgn10085
    ECgene: EDIL3 H-InvDB: EDIL3

    (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 EDIL3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EDIL3 gene:
    Search GeneIP for patents involving EDIL3

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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