This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 c... See more...

Aliases for EGFL6 Gene

Aliases for EGFL6 Gene

  • EGF Like Domain Multiple 6 2 3 5
  • MAM And EGF Domains-Containing Gene Protein 3 4
  • Epidermal Growth Factor-Like Protein 6 3 4
  • MAM And EGF Domain Containing 2 3
  • EGF-Like Protein 6 3 4
  • MAEG 3 4
  • EGF Repeat-Containing Protein 6 3
  • EGF-Like-Domain, Multiple 6 2
  • EGFL6 5
  • W80 3

External Ids for EGFL6 Gene

Previous HGNC Symbols for EGFL6 Gene

  • MAEG

Previous GeneCards Identifiers for EGFL6 Gene

  • GC0XP012826
  • GC0XP012407
  • GC0XP012949
  • GC0XP013347
  • GC0XP013497
  • GC0XP011346

Summaries for EGFL6 Gene

Entrez Gene Summary for EGFL6 Gene

  • This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. [provided by RefSeq, Jul 2008]

GeneCards Summary for EGFL6 Gene

EGFL6 (EGF Like Domain Multiple 6) is a Protein Coding gene. Diseases associated with EGFL6 include Benign Meningioma and Fibrous Meningioma. Gene Ontology (GO) annotations related to this gene include calcium ion binding and integrin binding. An important paralog of this gene is NPNT.

UniProtKB/Swiss-Prot Summary for EGFL6 Gene

  • May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis. Promotes matrix assembly (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EGFL6 Gene

Genomics for EGFL6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EGFL6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ013569 Promoter 0.8 EPDnew Ensembl 250.7 +0.3 276 0.6 EZH2 EGFL6 RPL30P15 TCEANC
GH0XJ013555 Promoter 0.3 EPDnew 250.4 -14.4 -14353 0.1 EGFL6 piR-57460-695 HSALNG0136714 ATXN3L
GH0XJ013522 Enhancer 0.4 Ensembl ENCODE 17.9 -46.1 -46084 1.4 CTCF EGFL6 piR-57460-695 HSALNG0136714 ATXN3L
GH0XJ013619 Enhancer 0.5 Ensembl ENCODE 12.5 +51.0 51000 1.6 NANOG USF1 EGFL6 HSALNG0136717 piR-55627-143 TCEANC
GH0XJ013837 Enhancer 1.1 Ensembl ENCODE dbSUPER 4.8 +267.9 267900 3.4 ZIC2 ZNF639 ZNF341 ZNF843 ZNF146 PRDM6 KLF16 ZSCAN5A ZNF2 INSM2 GPM6B EGFL6 AB372778-029 RF00017-8164 RF00017-8163 OFD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EGFL6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EGFL6

Top Transcription factor binding sites by QIAGEN in the EGFL6 gene promoter:
  • FOXD3
  • FOXJ2
  • Ik-1
  • Max1
  • p53
  • POU3F2
  • POU6F1 (c2)
  • SRF
  • SRF (504 AA)
  • YY1

Genomic Locations for EGFL6 Gene

Latest Assembly
chrX:13,569,601-13,633,575
(GRCh38/hg38)
Size:
63,975 bases
Orientation:
Plus strand

Previous Assembly
chrX:13,587,720-13,651,694
(GRCh37/hg19 by Entrez Gene)
Size:
63,975 bases
Orientation:
Plus strand

chrX:13,587,724-13,651,694
(GRCh37/hg19 by Ensembl)
Size:
63,971 bases
Orientation:
Plus strand

Genomic View for EGFL6 Gene

Genes around EGFL6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EGFL6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EGFL6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EGFL6 Gene

Proteins for EGFL6 Gene

  • Protein details for EGFL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUX8-EGFL6_HUMAN
    Recommended name:
    Epidermal growth factor-like protein 6
    Protein Accession:
    Q8IUX8
    Secondary Accessions:
    • B2RCB1
    • Q6UXJ1
    • Q8NBV0
    • Q8WYG3
    • Q9NY67
    • Q9NZL7
    • Q9UFK6

    Protein attributes for EGFL6 Gene

    Size:
    553 amino acids
    Molecular mass:
    61317 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG22483.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAQ88699.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for EGFL6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EGFL6 Gene

Post-translational modifications for EGFL6 Gene

  • Glycosylation at Asn397
  • Modification sites at PhosphoSitePlus

Other Protein References for EGFL6 Gene

No data available for DME Specific Peptides for EGFL6 Gene

Domains & Families for EGFL6 Gene

Gene Families for EGFL6 Gene

Protein Domains for EGFL6 Gene

Suggested Antigen Peptide Sequences for EGFL6 Gene

GenScript: Design optimal peptide antigens:
  • MAM and EGF domains-containing gene protein (EGFL6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IUX8

UniProtKB/Swiss-Prot:

EGFL6_HUMAN :
  • Belongs to the nephronectin family.
Family:
  • Belongs to the nephronectin family.
genes like me logo Genes that share domains with EGFL6: view

Function for EGFL6 Gene

Molecular function for EGFL6 Gene

UniProtKB/Swiss-Prot Function:
May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis. Promotes matrix assembly (By similarity).
GENATLAS Biochemistry:
EGF-like-domain,multiple 6,similar to fibrillin,expressed in brain and lung tumor and in fetal tissues,potential marker of malignancies

Phenotypes From GWAS Catalog for EGFL6 Gene

Gene Ontology (GO) - Molecular Function for EGFL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding TAS,IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with EGFL6: view
genes like me logo Genes that share phenotypes with EGFL6: view

Animal Models for research

  • Taconic Biosciences Mouse Models for EGFL6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EGFL6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EGFL6 Gene

Localization for EGFL6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EGFL6 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

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 EGFL6 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 1
nucleus 1
endoplasmic reticulum 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for EGFL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space TAS 10610727
GO:0016020 membrane IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with EGFL6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EGFL6 Gene

Pathways & Interactions for EGFL6 Gene

PathCards logo

SuperPathways for EGFL6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EGFL6 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 --
GO:0030154 cell differentiation IEA --
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with EGFL6: view

No data available for Pathways by source and SIGNOR curated interactions for EGFL6 Gene

Drugs & Compounds for EGFL6 Gene

No Compound Related Data Available

Transcripts for EGFL6 Gene

mRNA/cDNA for EGFL6 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EGFL6

Alternative Splicing Database (ASD) splice patterns (SP) for EGFL6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b
SP1: -
SP2: -
SP3: -
SP4: - - - - -
SP5:
SP6:

Relevant External Links for EGFL6 Gene

GeneLoc Exon Structure for
EGFL6

Expression for EGFL6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EGFL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EGFL6 Gene

This gene is overexpressed in Lung (x16.4) and Adipose - Subcutaneous (x15.7).

Protein differential expression in normal tissues from HIPED for EGFL6 Gene

This gene is overexpressed in Liver (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EGFL6 Gene



Protein tissue co-expression partners for EGFL6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EGFL6

SOURCE GeneReport for Unigene cluster for EGFL6 Gene:

Hs.12844

Evidence on tissue expression from TISSUES for EGFL6 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with EGFL6: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EGFL6 Gene

Orthologs for EGFL6 Gene

This gene was present in the common ancestor of animals.

Orthologs for EGFL6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EGFL6 30 31
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EGFL6 30 31
  • 86.1 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EGFL6 30 31
  • 83.95 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Egfl6 30 17 31
  • 83.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Egfl6 30
  • 83.01 (n)
Oppossum
(Monodelphis domestica)
Mammalia EGFL6 31
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EGFL6 31
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EGFL6 30 31
  • 69.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EGFL6 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia egfl6 30
  • 64.25 (n)
African clawed frog
(Xenopus laevis)
Amphibia egfl6-prov 30
Zebrafish
(Danio rerio)
Actinopterygii egfl6 30
  • 57.35 (n)
EGFL6 31
  • 44 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mua-3 31
  • 3 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 4 (a)
OneToMany
Species where no ortholog for EGFL6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)

Evolution for EGFL6 Gene

ENSEMBL:
Gene Tree for EGFL6 (if available)
TreeFam:
Gene Tree for EGFL6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EGFL6: view image

Paralogs for EGFL6 Gene

Paralogs for EGFL6 Gene

(1) SIMAP similar genes for EGFL6 Gene using alignment to 1 proteins:

  • EGFL6_HUMAN
genes like me logo Genes that share paralogs with EGFL6: view

Variants for EGFL6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EGFL6 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs141324039 Likely Benign: not provided 13,594,871(+) G/A
NM_015507.4(EGFL6):c.223G>A (p.Val75Met)
MISSENSE
rs16979010 Benign: not provided. - 13,594,844(+) G/Ap.Glu66Lys
NM_015507.4(EGFL6):c.196G>A (p.Glu66Lys)
MISSENSE
rs16999038 Benign: not provided 13,600,042(+) C/T
NM_015507.4(EGFL6):c.348C>T (p.Tyr116=)
SYNONYMOUS
rs34109887 Likely Benign: not provided 13,600,001(+) C/T
NM_015507.4(EGFL6):c.307C>T (p.Arg103Trp)
MISSENSE
rs34550481 Benign: not provided. - 13,627,249(+) G/Tp.Leu508Phe
NM_015507.4(EGFL6):c.1524G>T (p.Leu508Phe)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EGFL6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EGFL6 Gene

Variant ID Type Subtype PubMed ID
esv3576773 CNV gain 25503493

Variation tolerance for EGFL6 Gene

Residual Variation Intolerance Score: 91.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.97; 74.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EGFL6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EGFL6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EGFL6 Gene

Disorders for EGFL6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EGFL6 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
benign meningioma
  • meningioma, benign
fibrous meningioma
  • fibroblastic meningioma
secretory meningioma
  • meningioma
- elite association - COSMIC cancer census association via MalaCards
Search EGFL6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EGFL6

genes like me logo Genes that share disorders with EGFL6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EGFL6 Gene

Publications for EGFL6 Gene

  1. Cloning of a novel epidermal growth factor repeat containing gene EGFL6: expressed in tumor and fetal tissues. (PMID: 10610727) Yeung G … Ford JE (Genomics 1999) 2 3 4
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  3. Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. (PMID: 10777661) Buchner G … Franco B (Genomics 2000) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Thalidomide targets EGFL6 to inhibit EGFL6/PAX6 axis-driven angiogenesis in small bowel vascular malformation. (PMID: 32008086) Tang CT … Ge ZZ (Cellular and molecular life sciences : CMLS 2020) 3

Products for EGFL6 Gene

Sources for EGFL6 Gene