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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. 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).

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

Regulatory Elements for EGFL6 Gene

Enhancers for EGFL6 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
GH0XG013522 0.4 ENCODE 17.9 -46.2 -46202 1.1 ZNF146 RAD21 EGFL6 GC0XP013525 PIR57438
GH0XG013519 0.2 ENCODE 27.6 -48.4 -48364 2.4 EGFL6 GC0XP013525 PIR57438
GH0XG013620 0.4 ENCODE 12.5 +50.9 50872 0.1 CHD7 EGFL6 RN7SKP20 TCEANC
GH0XG013535 0.4 ENCODE 12.3 -33.1 -33132 2.0 CUX1 EGFL6 GC0XP013525 GC0XM013353
GH0XG013547 0.2 ENCODE 12.5 -21.6 -21618 1.2 EGFL6 GC0XM013353 GC0XP013525
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EGFL6 on UCSC Golden Path with GeneCards custom track

Genomic Location for EGFL6 Gene

Chromosome:
X
Start:
13,569,575 bp from pter
End:
13,633,575 bp from pter
Size:
64,001 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; Positions=89; Evidence={ECO:0000305}; Sequence=AAQ88699.1; Type=Frameshift; Positions=338; 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 isoforms=2397
  • 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

Suggested Antigen Peptide Sequences for EGFL6 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for EGFL6 Gene

Function for EGFL6 Gene

Molecular function for EGFL6 Gene

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

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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 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:0005578 proteinaceous extracellular matrix 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

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:0007049 cell cycle TAS 10610727
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 --
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

Transcripts for EGFL6 Gene

Unigene Clusters for EGFL6 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: - - - - -
SP5:
SP6:

Relevant External Links for EGFL6 Gene

GeneLoc Exon Structure for
EGFL6
ECgene alternative splicing isoforms for
EGFL6

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:

EGFL6

SOURCE GeneReport for Unigene cluster for EGFL6 Gene:

Hs.12844

Evidence on tissue expression from TISSUES for EGFL6 Gene

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

Primer Products

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 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia EGFL6 34 35
  • 86.1 (n)
cow
(Bos Taurus)
Mammalia EGFL6 34 35
  • 83.95 (n)
mouse
(Mus musculus)
Mammalia Egfl6 34 16 35
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Egfl6 34
  • 83.01 (n)
oppossum
(Monodelphis domestica)
Mammalia EGFL6 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EGFL6 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves EGFL6 34 35
  • 69.49 (n)
lizard
(Anolis carolinensis)
Reptilia EGFL6 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia egfl6 34
  • 64.25 (n)
African clawed frog
(Xenopus laevis)
Amphibia egfl6-prov 34
zebrafish
(Danio rerio)
Actinopterygii egfl6 34
  • 57.35 (n)
EGFL6 35
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mua-3 35
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 4 (a)
OneToMany
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

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

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 Sequence Context AA Info Type
rs1000184540 -- 13,608,822(+) ACAGT(G/T)GCTTA intron-variant
rs1000274746 -- 13,619,670(+) GTGGC(C/T)TACAG intron-variant
rs1000323401 -- 13,595,843(+) GCCTT(C/T)TGAGT intron-variant
rs1000351034 -- 13,585,009(+) GCTTT(C/T)GTGGT intron-variant
rs1000400473 -- 13,611,735(+) TGGGA(A/T)AAAAG 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)

Relevant External Links for EGFL6 Gene

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

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

Disorders for EGFL6 Gene

Relevant External Links for EGFL6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.E. (Genomics 1999) 2 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  3. Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. (PMID: 10777661) Buchner G. … Andolfi G. (Genomics 2000) 3 4 64
  4. A genome-wide association study of brain lesion distribution in multiple sclerosis. (PMID: 23412934) Gourraud P.A. … Baranzini S.E. (Brain 2013) 3 64
  5. Analysis of gene expression profiling in meningioma: deregulated signaling pathways associated with meningioma and EGFL6 overexpression in benign meningioma tissue and serum. (PMID: 23285163) Wang X. … Mao Y. (PLoS ONE 2012) 3 64

Products for EGFL6 Gene

Sources for EGFL6 Gene

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