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Aliases for EDIL3 Gene

Aliases for EDIL3 Gene

  • EGF Like Repeats And Discoidin Domains 3 2 3 5
  • Developmentally-Regulated Endothelial Cell Locus 1 Protein 3 4
  • EGF-Like Repeats And Discoidin I-Like Domains 3 2 3
  • Integrin-Binding Protein DEL1 3 4
  • DEL1 3 4
  • EGF-Like Repeat And Discoidin I-Like Domain-Containing Protein 3 3
  • Developmental Endothelial Locus-1 3

External Ids for EDIL3 Gene

Previous GeneCards Identifiers for EDIL3 Gene

  • GC05M082056
  • GC05M083465
  • GC05M083277
  • GC05M083322
  • GC05M083320
  • GC05M083272
  • GC05M078445
  • GC05M083236

Summaries for EDIL3 Gene

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 Domains 3) is a Protein Coding gene. Diseases associated with EDIL3 include Western Equine Encephalitis and Miller Fisher Syndrome. Among its related pathways are Integrins in angiogenesis and MAPK-Erk Pathway. GO annotations related to this gene include calcium ion binding and integrin binding. An important paralog of this gene is MFGE8.

UniProtKB/Swiss-Prot for EDIL3 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDIL3 Gene

Genomics for EDIL3 Gene

Regulatory Elements for EDIL3 Gene

Enhancers for EDIL3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F084287 1.3 FANTOM5 Ensembl ENCODE 15 +96.7 96701 1.3 JUN INSM2 EBF1 ZEB1 ZNF324 ZNF664 ZFHX2 ZNF366 PRDM10 NFE2 EDIL3 LOC105379057 RNU6-448P GC05M084203
GH05F084381 1.2 FANTOM5 ENCODE 6.9 +1.5 1478 4.4 SIN3A FEZF1 ZNF2 GLIS2 KLF7 ZNF263 SP3 REST ZNF610 SMARCA4 EDIL3 LOC105379057 GC05M084203
GH05F084292 1 FANTOM5 Ensembl 7.6 +91.9 91917 0.3 PKNOX1 FEZF1 ZNF664 ZNF366 SCRT2 NFYB PRDM10 OVOL3 SP2 ZNF623 EDIL3 GC05M084203 LOC105379057
GH05F084411 0.4 ENCODE 11.8 -27.1 -27131 0.2 GLIS1 FEZF1 LOC105379057 EDIL3 GC05P084444
GH05F084378 0.8 FANTOM5 ENCODE 5.6 +6.2 6183 1.1 ZNF316 JUND ZNF366 MAFK EDIL3 LOC105379057 GC05M084203
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EDIL3 on UCSC Golden Path with GeneCards custom track

Promoters for EDIL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001284499 867 4400 SIN3A FEZF1 ZNF2 GLIS2 KLF7 ZNF263 SP3 REST ZNF610 SMARCA4

Genomic Location for EDIL3 Gene

Chromosome:
5
Start:
83,940,554 bp from pter
End:
84,384,867 bp from pter
Size:
444,314 bases
Orientation:
Minus strand

Genomic View for EDIL3 Gene

Genes around EDIL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDIL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDIL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDIL3 Gene

Proteins for EDIL3 Gene

  • Protein details for EDIL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43854-EDIL3_HUMAN
    Recommended name:
    EGF-like repeat and discoidin I-like domain-containing protein 3
    Protein Accession:
    O43854
    Secondary Accessions:
    • B2R763
    • O43855
    • Q5D094
    • Q8N610

    Protein attributes for EDIL3 Gene

    Size:
    480 amino acids
    Molecular mass:
    53765 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for EDIL3 Gene

    Alternative splice isoforms for EDIL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDIL3 Gene

Post-translational modifications for EDIL3 Gene

  • Ubiquitination at Lys 244
  • Glycosylation at Thr 73, Thr 88, Asn 140, and Thr 336
  • Modification sites at PhosphoSitePlus

Other Protein References for EDIL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for EDIL3
  • Santa Cruz Biotechnology (SCBT) Antibodies for EDIL3

No data available for DME Specific Peptides for EDIL3 Gene

Domains & Families for EDIL3 Gene

Suggested Antigen Peptide Sequences for EDIL3 Gene

Graphical View of Domain Structure for InterPro Entry

O43854

UniProtKB/Swiss-Prot:

EDIL3_HUMAN :
  • 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.
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.
  • Contains 3 EGF-like domains.
  • Contains 2 F5/8 type C domains.
genes like me logo Genes that share domains with EDIL3: view

No data available for Gene Families for EDIL3 Gene

Function for EDIL3 Gene

Molecular function for EDIL3 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for EDIL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA --
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EDIL3: view
genes like me logo Genes that share phenotypes with EDIL3: view

Animal Models for EDIL3 Gene

MGI Knock Outs for EDIL3:

Animal Model Products

  • Taconic Biosciences Mouse Models for EDIL3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EDIL3 Gene

Localization for EDIL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDIL3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EDIL3 gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EDIL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0031012 extracellular matrix IDA 23979707
GO:0070062 extracellular exosome IDA 21362503
GO:1903561 extracellular vesicle IDA 24769233
genes like me logo Genes that share ontologies with EDIL3: view

Pathways & Interactions for EDIL3 Gene

genes like me logo Genes that share pathways with EDIL3: view

Pathways by source for EDIL3 Gene

1 BioSystems pathway for EDIL3 Gene

Gene Ontology (GO) - Biological Process for EDIL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007275 multicellular organism development IEA --
GO:0010811 positive regulation of cell-substrate adhesion IEA --
genes like me logo Genes that share ontologies with EDIL3: view

No data available for SIGNOR curated interactions for EDIL3 Gene

Transcripts for EDIL3 Gene

Unigene Clusters for EDIL3 Gene

EGF-like repeats and discoidin I-like domains 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDIL3 Gene

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

Relevant External Links for EDIL3 Gene

GeneLoc Exon Structure for
EDIL3
ECgene alternative splicing isoforms for
EDIL3

Expression for EDIL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EDIL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EDIL3 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x7.8) and Brain - Substantia nigra (x4.5).

Protein differential expression in normal tissues from HIPED for EDIL3 Gene

This gene is overexpressed in Amniocyte (55.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EDIL3 Gene



Protein tissue co-expression partners for EDIL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of EDIL3 Gene:

EDIL3

SOURCE GeneReport for Unigene cluster for EDIL3 Gene:

Hs.482730
genes like me logo Genes that share expression patterns with EDIL3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for EDIL3 Gene

Orthologs for EDIL3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDIL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDIL3 34 35
  • 99.58 (n)
oppossum
(Monodelphis domestica)
Mammalia EDIL3 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDIL3 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EDIL3 34 35
  • 92.57 (n)
dog
(Canis familiaris)
Mammalia EDIL3 34 35
  • 92.08 (n)
mouse
(Mus musculus)
Mammalia Edil3 34 16 35
  • 89.79 (n)
rat
(Rattus norvegicus)
Mammalia Edil3 34
  • 89.07 (n)
chicken
(Gallus gallus)
Aves EDIL3 34 35
  • 82.01 (n)
lizard
(Anolis carolinensis)
Reptilia EDIL3 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia edil3 34
  • 78.96 (n)
MGC75581 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7387 34
zebrafish
(Danio rerio)
Actinopterygii edil3 34 35
  • 78.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2640 35
  • 29 (a)
OneToMany
Species where no ortholog for EDIL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EDIL3 Gene

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

Paralogs for EDIL3 Gene

Paralogs for EDIL3 Gene

(5) SIMAP similar genes for EDIL3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with EDIL3: view

Variants for EDIL3 Gene

Sequence variations from dbSNP and Humsavar for EDIL3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10035691 -- 84,340,923(+) ACTCC(A/C)ATCCA intron-variant
rs10036389 -- 84,200,782(+) AGTAA(A/C/G)TAAAC intron-variant
rs10037434 -- 84,122,281(+) AAATA(A/C)AAATG intron-variant
rs10037615 -- 83,941,436(+) AAAGC(A/G)TAAGT utr-variant-3-prime
rs10037974 -- 84,283,690(+) TTATC(C/T)CTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EDIL3 Gene

Variant ID Type Subtype PubMed ID
nsv830371 CNV gain 17160897
nsv830369 CNV loss 17160897
nsv830368 CNV loss 17160897
nsv823108 CNV loss 20364138
nsv598786 CNV loss 21841781
nsv525596 CNV loss 19592680
nsv520830 CNV gain 19592680
nsv4905 CNV insertion 18451855
nsv329064 CNV deletion 16902084
nsv1125846 CNV tandem duplication 24896259
nsv1123967 CNV deletion 24896259
nsv1074314 CNV deletion 25765185
nsv1015852 CNV gain 25217958
esv7439 CNV gain 19470904
esv3605648 CNV loss 21293372
esv3605647 CNV loss 21293372
esv3605646 CNV loss 21293372
esv3605644 CNV loss 21293372
esv3605643 CNV loss 21293372
esv3605642 CNV loss 21293372
esv3566206 CNV deletion 23714750
esv3566201 CNV deletion 23714750
esv2730405 CNV deletion 23290073
esv2730404 CNV deletion 23290073
esv2676239 CNV deletion 23128226
esv2661836 CNV deletion 23128226
esv2658431 CNV deletion 23128226
esv2657400 CNV deletion 23128226
esv2120037 CNV deletion 18987734
dgv5709n100 CNV loss 25217958
dgv3116n106 CNV deletion 24896259
dgv200n6 CNV deletion 16902084

Variation tolerance for EDIL3 Gene

Residual Variation Intolerance Score: 38.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EDIL3 Gene

Human Gene Mutation Database (HGMD)
EDIL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDIL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDIL3 Gene

Disorders for EDIL3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EDIL3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
western equine encephalitis
  • wee
miller fisher syndrome
  • fisher's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search EDIL3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EDIL3

Genetic Association Database (GAD)
EDIL3
Human Genome Epidemiology (HuGE) Navigator
EDIL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDIL3
genes like me logo Genes that share disorders with EDIL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EDIL3 Gene

Publications for EDIL3 Gene

  1. Cloning and characterization of developmental endothelial locus-1: an embryonic endothelial cell protein that binds the alphavbeta3 integrin receptor. (PMID: 9420328) Hidai C. … Quertermous T. (Genes Dev. 1998) 2 3 4 64
  2. The RGD finger of Del-1 is a unique structural feature critical for integrin binding. (PMID: 22601780) SchA1rpf T. … Wang J.H. (FASEB J. 2012) 3 4 64
  3. Chemerin, a novel adipokine in the regulation of angiogenesis. (PMID: 20237162) Bozaoglu K. … Jowett J.B. (J. Clin. Endocrinol. Metab. 2010) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. A genome-wide study reveals copy number variants exclusive to childhood obesity cases. (PMID: 20950786) Glessner J.T. … Grant S.F. (Am. J. Hum. Genet. 2010) 3 46 64

Products for EDIL3 Gene

Sources for EDIL3 Gene

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