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

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

Additional gene information for EGFL6 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EGFL6 Gene

Genomics for EGFL6 Gene

GeneHancer (GH) Regulatory Elements for EGFL6 Gene

Promoters and enhancers for EGFL6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ013569 Promoter 0.5 EPDnew 650.7 +0.0 7 0.1 EGFL6 RPL30P15 GC0XP013525
GH0XJ013555 Promoter 0.5 EPDnew 650.4 -14.3 -14327 0.1 EGFL6 GC0XM013353 GC0XP013525
GH0XJ013519 Enhancer 0.2 ENCODE 27.6 -48.4 -48363 2.4 EGFL6 GC0XP013525 GC0XM013353 PIR57438
GH0XJ013522 Enhancer 0.3 ENCODE 17.9 -46.2 -46201 1.1 CTCF GC0XP013525 EGFL6 GC0XM013353 PIR57438
GH0XJ013620 Enhancer 0.3 ENCODE 12.5 +50.9 50872 0.1 NANOG EGFL6 RN7SKP20 TCEANC GC0XP013525
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EGFL6 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for EGFL6 Gene

Genomic Locations for EGFL6 Gene
64,001 bases
Plus strand
64,001 bases
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:
    Recommended name:
    Epidermal growth factor-like protein 6
    Protein Accession:
    Secondary Accessions:
    • B2RCB1
    • Q6UXJ1
    • Q8NBV0
    • Q8WYG3
    • Q9NY67
    • Q9NZL7
    • Q9UFK6

    Protein attributes for EGFL6 Gene

    553 amino acids
    Molecular mass:
    61317 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAG22483.1; Type=Frameshift; Positions=89; Evidence={ECO:0000305}; Sequence=AAQ88699.1; Type=Frameshift; Positions=338; Evidence={ECO:0000305};

    Alternative splice isoforms for EGFL6 Gene


neXtProt entry for EGFL6 Gene

Post-translational modifications for EGFL6 Gene

  • Glycosylation at Asn397
  • Modification sites at PhosphoSitePlus

Other Protein References for EGFL6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EGFL6 Gene

Domains & Families for EGFL6 Gene

Gene Families for EGFL6 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for EGFL6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the nephronectin 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 10610727
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with EGFL6: view
genes like me logo Genes that share phenotypes with EGFL6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for EGFL6

Clone Products

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

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 2
endoplasmic reticulum 1
golgi apparatus 1

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 --
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

SuperPathways for EGFL6 Gene

No Data Available

Interacting Proteins for EGFL6 Gene

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 :
(8) Additional mRNA sequences :
(183) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EGFL6 Gene

EGF-like-domain, multiple 6:
Representative Sequences:

Clone Products

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: - - - - -

Relevant External Links for EGFL6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EGFL6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of EGFL6 Gene:


SOURCE GeneReport for Unigene cluster for EGFL6 Gene:


Evidence on tissue expression from TISSUES for EGFL6 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with EGFL6: view

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
(Pan troglodytes)
Mammalia EGFL6 34 33
  • 99.58 (n)
(Canis familiaris)
Mammalia EGFL6 34 33
  • 86.1 (n)
(Bos Taurus)
Mammalia EGFL6 34 33
  • 83.95 (n)
(Mus musculus)
Mammalia Egfl6 16 34 33
  • 83.33 (n)
(Rattus norvegicus)
Mammalia Egfl6 33
  • 83.01 (n)
(Monodelphis domestica)
Mammalia EGFL6 34
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia EGFL6 34
  • 60 (a)
(Gallus gallus)
Aves EGFL6 34 33
  • 69.49 (n)
(Anolis carolinensis)
Reptilia EGFL6 34
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia egfl6 33
  • 64.25 (n)
African clawed frog
(Xenopus laevis)
Amphibia egfl6-prov 33
(Danio rerio)
Actinopterygii egfl6 33
  • 57.35 (n)
EGFL6 34
  • 44 (a)
(Caenorhabditis elegans)
Secernentea mua-3 34
  • 3 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 4 (a)
Species where no ortholog for EGFL6 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)

Evolution for EGFL6 Gene

Gene Tree for EGFL6 (if available)
Gene Tree for EGFL6 (if available)
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:

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

Variants for EGFL6 Gene

Sequence variations from dbSNP and Humsavar for EGFL6 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000184540 -- 13,608,822(+) G/T intron_variant
rs1000274746 -- 13,619,670(+) C/T intron_variant
rs1000323401 -- 13,595,843(+) C/T intron_variant
rs1000351034 -- 13,585,009(+) C/T intron_variant
rs1000400473 -- 13,611,735(+) T/A intron_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EGFL6 Gene

Additional Disease Information for EGFL6

No disorders were found for EGFL6 Gene.

No data available for MalaCards , 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 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. High Level of Plasma EGFL6 Is Associated with Clinicopathological Characteristics in Patients with Oral Squamous Cell Carcinoma. (PMID: 28539817) Chuang CY … Chou YE (International journal of medical sciences 2017) 3 58

Products for EGFL6 Gene

Sources for EGFL6 Gene

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