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Aliases for EGFL7 Gene

Aliases for EGFL7 Gene

  • EGF Like Domain Multiple 7 2 3 5
  • Multiple Epidermal Growth Factor-Like Domains Protein 7 3 4
  • Multiple EGF-Like Domains Protein 7 3 4
  • Vascular Endothelial Statin 3 4
  • NOTCH4-Like Protein 3 4
  • EGF-Like Protein 7 3 4
  • VE-STATIN 3 4
  • ZNEU1 3 4
  • Epidermal Growth Factor-Like Protein 7 3
  • EGF-Like-Domain, Multiple 7 2
  • MEGF7 4
  • NEU1 3

External Ids for EGFL7 Gene

Previous GeneCards Identifiers for EGFL7 Gene

  • GC09P132994
  • GC09P134914
  • GC09P136829
  • GC09P138673
  • GC09P139553
  • GC09P109017

Summaries for EGFL7 Gene

Entrez Gene Summary for EGFL7 Gene

  • This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

GeneCards Summary for EGFL7 Gene

EGFL7 (EGF Like Domain Multiple 7) is a Protein Coding gene. Diseases associated with EGFL7 include Capillary Hemangioma and Skin Hemangioma. GO annotations related to this gene include calcium ion binding and Notch binding. An important paralog of this gene is EGFL8.

UniProtKB/Swiss-Prot for EGFL7 Gene

  • Regulates vascular tubulogenesis in vivo. Inhibits platelet-derived growth factor (PDGF)-BB-induced smooth muscle cell migration and promotes endothelial cell adhesion to the extracellular matrix and angiogenesis.

Gene Wiki entry for EGFL7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EGFL7 Gene

Genomics for EGFL7 Gene

Regulatory Elements for EGFL7 Gene

Enhancers for EGFL7 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
GH09G136642 2 FANTOM5 Ensembl ENCODE dbSUPER 29.9 -13.8 -13767 5.8 HDGF PKNOX1 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B EGFL7 AGPAT2 FAM69B SEC16A C9orf163 MAN1B1 ARRDC1-AS1 NOTCH1 UAP1L1 CARD9
GH09G136653 1.9 FANTOM5 Ensembl ENCODE dbSUPER 28 +0.9 919 11.8 HDGF ATF1 CREB3L1 ARNT AGO1 SIN3A TCF12 ZNF766 GLIS2 ELK1 EGFL7 AGPAT2 FAM69B DNLZ NCLP1 FUT7 INPP5E HSPC324
GH09G136666 1.1 ENCODE dbSUPER 16.8 +9.7 9687 4.9 HNRNPUL1 PTBP1 FUS AGO1 GLIS2 EGR1 SP3 TAF15 SMAD5 ZHX2 EGFL7 AGPAT2 GC09P136671 GC09M136660
GH09G136713 1.1 FANTOM5 ENCODE 14.3 +55.6 55585 3.6 AGO1 SREBF2 RARA ZNF121 ZNF766 GLIS2 GATA2 KLF7 ZNF263 NR2F2 EGFL7 LCN8 FAM69B NPDC1 INPP5E SNAPC4 GC09M136749 SNORA17B
GH09G136510 1.6 FANTOM5 ENCODE dbSUPER 7.1 -147.2 -147196 3.2 HDAC1 PKNOX1 ATF1 NFRKB ZBTB40 TCF12 ZNF766 GATA2 FOS ETV6 SNAPC4 EGFL7 PMPCA INPP5E DNLZ FAM69B TRAF2 MIR4673 SEC16A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EGFL7 on UCSC Golden Path with GeneCards custom track

Genomic Location for EGFL7 Gene

Chromosome:
9
Start:
136,658,856 bp from pter
End:
136,672,678 bp from pter
Size:
13,823 bases
Orientation:
Plus strand

Genomic View for EGFL7 Gene

Genes around EGFL7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EGFL7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EGFL7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EGFL7 Gene

Proteins for EGFL7 Gene

  • Protein details for EGFL7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHF1-EGFL7_HUMAN
    Recommended name:
    Epidermal growth factor-like protein 7
    Protein Accession:
    Q9UHF1
    Secondary Accessions:
    • B3KRP0
    • M9VTX9
    • Q5M7Y5
    • Q5VUD5
    • Q96EG0

    Protein attributes for EGFL7 Gene

    Size:
    273 amino acids
    Molecular mass:
    29618 Da
    Quaternary structure:
    • Interacts with ITGAV/ITGB3 in an RGD-dependent manner, increasing endothelial cells motility.
    Miscellaneous:
    • Endothelial cells depleted in EGFL7 by siRNAs display dramatic alterations in adhesion, morphology, and sprouting. The defects are in part due to diminished RhoA expression and impaired focal adhesion localization.

neXtProt entry for EGFL7 Gene

Post-translational modifications for EGFL7 Gene

  • Glycosylation at Thr54, Thr55, and isoforms=190
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for EGFL7
  • Cloud-Clone Corp. Antibodies for EGFL7

No data available for DME Specific Peptides for EGFL7 Gene

Domains & Families for EGFL7 Gene

Suggested Antigen Peptide Sequences for EGFL7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EGFL7: view

No data available for Gene Families and UniProtKB/Swiss-Prot for EGFL7 Gene

Function for EGFL7 Gene

Molecular function for EGFL7 Gene

UniProtKB/Swiss-Prot Function:
Regulates vascular tubulogenesis in vivo. Inhibits platelet-derived growth factor (PDGF)-BB-induced smooth muscle cell migration and promotes endothelial cell adhesion to the extracellular matrix and angiogenesis.

Gene Ontology (GO) - Molecular Function for EGFL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with EGFL7: view
genes like me logo Genes that share phenotypes with EGFL7: view

Animal Models for EGFL7 Gene

MGI Knock Outs for EGFL7:

Animal Model Products

CRISPR Products

miRNA for EGFL7 Gene

miRTarBase miRNAs that target EGFL7

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EGFL7 Gene

Localization for EGFL7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EGFL7 Gene

Secreted, extracellular space.

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 EGFL7 gene
Compartment Confidence
extracellular 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for EGFL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region ISS --
GO:0005615 extracellular space IEA --
GO:0031012 extracellular matrix IDA 23658023
genes like me logo Genes that share ontologies with EGFL7: view

Pathways & Interactions for EGFL7 Gene

SuperPathways for EGFL7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EGFL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001568 blood vessel development ISS --
GO:0001570 vasculogenesis ISS --
GO:0001938 positive regulation of endothelial cell proliferation IMP 20947685
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with EGFL7: view

No data available for Pathways by source and SIGNOR curated interactions for EGFL7 Gene

Drugs & Compounds for EGFL7 Gene

(1) Drugs for EGFL7 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anti-EGFL7 Pharma antibody 0
genes like me logo Genes that share compounds with EGFL7: view

Transcripts for EGFL7 Gene

Unigene Clusters for EGFL7 Gene

EGF-like-domain, multiple 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EGFL7 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - - - - - - - -
SP8: - - - -
SP9: - - - - - -
SP10: - - - - -
SP11:
SP12:
SP13: - - - -
SP14:

Relevant External Links for EGFL7 Gene

GeneLoc Exon Structure for
EGFL7
ECgene alternative splicing isoforms for
EGFL7

Expression for EGFL7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EGFL7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EGFL7 Gene

This gene is overexpressed in Testis (31.8) and Heart (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EGFL7 Gene



Protein tissue co-expression partners for EGFL7 Gene

NURSA nuclear receptor signaling pathways regulating expression of EGFL7 Gene:

EGFL7

SOURCE GeneReport for Unigene cluster for EGFL7 Gene:

Hs.91481

Evidence on tissue expression from TISSUES for EGFL7 Gene

  • Nervous system(4.3)
  • Kidney(4.2)
  • Heart(2.8)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with EGFL7: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EGFL7 Gene

Orthologs for EGFL7 Gene

This gene was present in the common ancestor of animals.

Orthologs for EGFL7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EGFL7 34 35
  • 99.02 (n)
cow
(Bos Taurus)
Mammalia EGFL7 34 35
  • 84.31 (n)
dog
(Canis familiaris)
Mammalia EGFL7 34 35
  • 84.13 (n)
mouse
(Mus musculus)
Mammalia Egfl7 34 16 35
  • 78.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EGFL7 35
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EGFL7 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves EGFL7 34 35
  • 61.78 (n)
lizard
(Anolis carolinensis)
Reptilia EGFL7 35
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia egfl7 34
  • 60.34 (n)
zebrafish
(Danio rerio)
Actinopterygii egfl7 34 35
  • 52.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta slow 34 35
  • 45.72 (n)
Species where no ortholog for EGFL7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 EGFL7 Gene

ENSEMBL:
Gene Tree for EGFL7 (if available)
TreeFam:
Gene Tree for EGFL7 (if available)

Paralogs for EGFL7 Gene

Paralogs for EGFL7 Gene

(3) SIMAP similar genes for EGFL7 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EGFL7: view

Variants for EGFL7 Gene

Sequence variations from dbSNP and Humsavar for EGFL7 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000037301 -- 136,669,195(+) CCTGC(C/T)GGGGG intron-variant, upstream-variant-2KB
rs1000070031 -- 136,656,892(+) TCCCC(A/G)CACGG intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1000178441 -- 136,663,399(+) CTCTC(C/T)CTCCG intron-variant
rs1000338088 -- 136,667,919(+) AACGG(C/T)CACCC intron-variant
rs1000399146 -- 136,654,227(+) GAAGA(A/G)GCTAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for EGFL7 Gene

Variant ID Type Subtype PubMed ID
dgv13005n54 CNV loss 21841781
dgv13006n54 CNV loss 21841781
dgv955n27 CNV loss 19166990
dgv957n27 CNV loss 19166990
esv2422220 CNV deletion 17116639
esv2759720 CNV loss 17122850
esv32979 CNV gain 17666407
esv3545642 CNV deletion 23714750
nsv1053781 CNV gain 25217958
nsv1126929 CNV deletion 24896259
nsv469918 CNV loss 18288195
nsv509334 CNV insertion 20534489
nsv615971 CNV loss 21841781
nsv8579 CNV gain 18304495
nsv951203 CNV deletion 24416366

Variation tolerance for EGFL7 Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.66; 78.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EGFL7 Gene

Human Gene Mutation Database (HGMD)
EGFL7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EGFL7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EGFL7 Gene

Disorders for EGFL7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EGFL7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
capillary hemangioma
  • cellular hemangioma of infancy
skin hemangioma
  • angioma of the skin
- elite association - COSMIC cancer census association via MalaCards
Search EGFL7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EGFL7

Genetic Association Database (GAD)
EGFL7
Human Genome Epidemiology (HuGE) Navigator
EGFL7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EGFL7
genes like me logo Genes that share disorders with EGFL7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EGFL7 Gene

Publications for EGFL7 Gene

  1. EGFL7 ligates I+vI^3 integrin to enhance vessel formation. (PMID: 23386126) Nikolic I. … Schmidt M.H. (Blood 2013) 3 4 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. miR-126 inhibits non-small cell lung cancer cells proliferation by targeting EGFL7. (PMID: 20034472) Sun Y. … Guo L. (Biochem. Biophys. Res. Commun. 2010) 3 22 64
  4. [miR-126 modulates the expression of epidermal growth factor-like domain 7 in human umbilical vein endothelial cells in vitro]. (PMID: 20423846) Sun Y.Q. … Guo L.L. (Nan Fang Yi Ke Da Xue Xue Bao 2010) 3 22 64
  5. Epidermal growth factor-like domain 7 (EGFL7) modulates Notch signalling and affects neural stem cell renewal. (PMID: 19503073) Schmidt M.H. … Dikic I. (Nat. Cell Biol. 2009) 3 22 64

Products for EGFL7 Gene

Sources for EGFL7 Gene

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