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Aliases for EGFL8 Gene

Aliases for EGFL8 Gene

  • EGF Like Domain Multiple 8 2 3 5
  • Vascular Endothelial Statin-2 3 4
  • EGF-Like Protein 8 3 4
  • VE-Statin-2 3 4
  • C6orf8 3 4
  • NG3 3 4
  • Epidermal Growth Factor-Like Protein 8 3
  • Chromosome 6 Open Reading Frame 8 2
  • EGF-Like-Domain, Multiple 8 2

External Ids for EGFL8 Gene

Previous HGNC Symbols for EGFL8 Gene

  • C6orf8

Previous GeneCards Identifiers for EGFL8 Gene

  • GC06P031904
  • GC06P032192
  • GC06P032229
  • GC06P032241
  • GC06P031886

Summaries for EGFL8 Gene

GeneCards Summary for EGFL8 Gene

EGFL8 (EGF Like Domain Multiple 8) is a Protein Coding gene. Diseases associated with EGFL8 include Ischemic Bone Disease. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EGFL7.

Additional gene information for EGFL8 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EGFL8 Gene

Genomics for EGFL8 Gene

Regulatory Elements for EGFL8 Gene

Enhancers for EGFL8 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
GH06H031774 1.7 Ensembl ENCODE dbSUPER 41.9 -387.8 -387777 3 MLX DMAP1 YY1 SLC30A9 SP3 NFYC MEF2D GLIS1 NBN NR2C1 GTF2H4 PPT2 EGFL8 DXO ZBTB12 LY6G5B PRRC2A PRRT1 NFKBIL1 LSM2
GH06H032633 1.8 FANTOM5 Ensembl ENCODE dbSUPER 32.5 +472.4 472422 7 HDGF FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF416 ZNF143 ATF7 RUNX3 HLA-DQA1 HLA-DQB1 HLA-DQA2 HLA-DRB1 HLA-DQB2 HLA-DRB5 PPT2 HLA-DRB6 HCG25 VPS52
GH06H031619 1.4 ENCODE dbSUPER 38.9 -543.4 -543356 4 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 LSM2 ATF6B GTF2H4 LY6G5B MDC1 PPT2 DDX39B EGFL8 NFKBIL1 DXO
GH06H032965 1.5 ENCODE dbSUPER 30.9 +806.1 806086 10 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ZC3H11A PPARGC1A BRD2 LEMD2 VPS52 RXRB ATF6B HCG25 RING1 DAXX WDR46 PPT2
GH06H032583 1.5 Ensembl ENCODE dbSUPER 21.1 +420.7 420720 3 GLI4 ZNF2 GLIS2 KLF7 SP3 YY2 TSHZ1 ZNF518A ZNF658 ZSCAN16 HLA-DRB1 HLA-DRB6 HLA-DQA2 HLA-DRB5 BRD2 LSM2 RXRB HLA-DQB1-AS1 PPT2 TNXB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EGFL8 on UCSC Golden Path with GeneCards custom track

Genomic Location for EGFL8 Gene

Chromosome:
6
Start:
32,164,583 bp from pter
End:
32,168,285 bp from pter
Size:
3,703 bases
Orientation:
Plus strand

Genomic View for EGFL8 Gene

Genes around EGFL8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EGFL8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EGFL8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for EGFL8 Gene

  • Protein details for EGFL8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99944-EGFL8_HUMAN
    Recommended name:
    Epidermal growth factor-like protein 8
    Protein Accession:
    Q99944
    Secondary Accessions:
    • B0S884
    • G5E9Q0
    • Q5JP23
    • Q5SSX3
    • Q8IV30

    Protein attributes for EGFL8 Gene

    Size:
    293 amino acids
    Molecular mass:
    32262 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EGFL8 Gene

Post-translational modifications for EGFL8 Gene

  • Glycosylation at posLast=5050
  • Modification sites at PhosphoSitePlus

Other Protein References for EGFL8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EGFL8 Gene

Domains & Families for EGFL8 Gene

Gene Families for EGFL8 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for EGFL8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EGFL8: view

No data available for UniProtKB/Swiss-Prot for EGFL8 Gene

Function for EGFL8 Gene

Phenotypes From GWAS Catalog for EGFL8 Gene

Gene Ontology (GO) - Molecular Function for EGFL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with EGFL8: view
genes like me logo Genes that share phenotypes with EGFL8: view

Animal Models for EGFL8 Gene

MGI Knock Outs for EGFL8:

Animal Model Products

  • Taconic Biosciences Mouse Models for EGFL8

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EGFL8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for EGFL8 Gene

Localization for EGFL8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EGFL8 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 EGFL8 gene
Compartment Confidence
extracellular 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EGFL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with EGFL8: view

Pathways & Interactions for EGFL8 Gene

SuperPathways for EGFL8 Gene

No Data Available

Interacting Proteins for EGFL8 Gene

Selected Interacting proteins: Q99944-EGFL8_HUMAN for EGFL8 Gene via IID

Gene Ontology (GO) - Biological Process for EGFL8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 NOT in utero embryonic development ISS --
genes like me logo Genes that share ontologies with EGFL8: view

No data available for Pathways by source and SIGNOR curated interactions for EGFL8 Gene

Drugs & Compounds for EGFL8 Gene

No Compound Related Data Available

Transcripts for EGFL8 Gene

Unigene Clusters for EGFL8 Gene

EGF-like-domain, multiple 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EGFL8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for EGFL8 Gene

No ASD Table

Relevant External Links for EGFL8 Gene

GeneLoc Exon Structure for
EGFL8
ECgene alternative splicing isoforms for
EGFL8

Expression for EGFL8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EGFL8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EGFL8 Gene

This gene is overexpressed in Spinal cord (56.2) and Urinary Bladder (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EGFL8 Gene



Protein tissue co-expression partners for EGFL8 Gene

NURSA nuclear receptor signaling pathways regulating expression of EGFL8 Gene:

EGFL8

SOURCE GeneReport for Unigene cluster for EGFL8 Gene:

Hs.731888

Evidence on tissue expression from TISSUES for EGFL8 Gene

  • Skin(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with EGFL8: 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 EGFL8 Gene

Orthologs for EGFL8 Gene

This gene was present in the common ancestor of animals.

Orthologs for EGFL8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EGFL8 34 33
  • 99.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EGFL8 34 33
  • 86.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EGFL8 34 33
  • 85.44 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Egfl8 33
  • 80.6 (n)
mouse
(Mus musculus)
Mammalia Egfl8 33 16 34
  • 80.14 (n)
oppossum
(Monodelphis domestica)
Mammalia EGFL8 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EGFL8 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EGFL8 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia egfl8 33
  • 52.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta slow 34
  • 13 (a)
OneToMany
Species where no ortholog for EGFL8 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • zebrafish (Danio rerio)

Evolution for EGFL8 Gene

ENSEMBL:
Gene Tree for EGFL8 (if available)
TreeFam:
Gene Tree for EGFL8 (if available)

Paralogs for EGFL8 Gene

Paralogs for EGFL8 Gene

genes like me logo Genes that share paralogs with EGFL8: view

Variants for EGFL8 Gene

Sequence variations from dbSNP and Humsavar for EGFL8 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs771678882 Uncertain significance 32,162,807(+) TGAAG(A/G)TTTAT upstream-variant-2KB, reference, missense
rs1000918959 -- 32,163,153(+) CCAGG(A/C)CTCCC upstream-variant-2KB, utr-variant-3-prime
rs1001325703 -- 32,168,680(+) GGGCA(C/G)GCATG intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1002422716 -- 32,162,700(+) GAGCT(A/G)AAGGG intron-variant, upstream-variant-2KB
rs1002696895 -- 32,165,807(+) AAAAA(A/C)CCCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EGFL8 Gene

Variant ID Type Subtype PubMed ID
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
esv2759415 CNV gain+loss 17122850
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv602104 CNV loss 21841781
nsv830629 CNV loss 17160897

Variation tolerance for EGFL8 Gene

Residual Variation Intolerance Score: 52.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.43; 77.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EGFL8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EGFL8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EGFL8 Gene

Disorders for EGFL8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EGFL8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ischemic bone disease
- elite association - COSMIC cancer census association via MalaCards
Search EGFL8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EGFL8

Genetic Association Database (GAD)
EGFL8
Human Genome Epidemiology (HuGE) Navigator
EGFL8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EGFL8
genes like me logo Genes that share disorders with EGFL8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EGFL8 Gene

Publications for EGFL8 Gene

  1. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A … EUROSPAN consortium (PLoS genetics 2012) 3 45 60
  2. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E … Dorak MT (Molecular human reproduction 2010) 3 45 60
  3. Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1. (PMID: 19143814) Valdes AM … Type 1 Diabetes Genetics Consortium (Diabetes, obesity & metabolism 2009) 3 45 60
  4. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 45 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for EGFL8 Gene

Sources for EGFL8 Gene

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