Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EGFL6 Gene

Aliases for EGFL6 Gene

  • EGF Like Domain Multiple 6 2 3
  • 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
  • EGF Repeat-Containing Protein 6 3
  • 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 bladder diverticulum. 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 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

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

Proteomics data for EGFL6 Gene at MOPED

Post-translational modifications for EGFL6 Gene

  • Glycosylation at Asn 397
  • Modification sites at PhosphoSitePlus

Other Protein References for EGFL6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for EGFL6

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 :
  • Contains 5 EGF-like domains.
  • Belongs to the nephronectin family.
Domain:
  • Contains 5 EGF-like domains.
  • Contains 1 MAM domain.
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).
genes like me logo Genes that share phenotypes with EGFL6: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for EGFL6 Gene 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: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

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000369976%0d%0a9606.ENSP00000369981%0d%0a
Selected Interacting proteins: ENSP00000369976 Q8IUX8-EGFL6_HUMAN for EGFL6 Gene via STRING I2D MINT

Gene Ontology (GO) - Biological Process for EGFL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell 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

Unigene Clusters for EGFL6 Gene

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

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 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



SOURCE GeneReport for Unigene cluster for EGFL6 Gene Hs.12844

genes like me logo Genes that share expression patterns with EGFL6: view

Protein tissue co-expression partners for EGFL6 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.58 (n)
  • 99.46 (a)
EGFL6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EGFL6 36
  • 77 (a)
OneToOne
EGFL6 35
  • 83.95 (n)
  • 77.43 (a)
dog
(Canis familiaris)
Mammalia EGFL6 35
  • 86.1 (n)
  • 83.24 (a)
EGFL6 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Egfl6 36
  • 78 (a)
OneToOne
Egfl6 16
Egfl6 35
  • 83.33 (n)
  • 78.65 (a)
oppossum
(Monodelphis domestica)
Mammalia EGFL6 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EGFL6 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Egfl6 35
  • 83.01 (n)
  • 79.88 (a)
chicken
(Gallus gallus)
Aves EGFL6 36
  • 60 (a)
OneToOne
EGFL6 35
  • 69.49 (n)
  • 61.58 (a)
lizard
(Anolis carolinensis)
Reptilia EGFL6 36
  • 55 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia egfl6-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia egfl6 35
  • 64.25 (n)
  • 58.86 (a)
zebrafish
(Danio rerio)
Actinopterygii EGFL6 36
  • 44 (a)
OneToOne
egfl6 35
  • 57.35 (n)
  • 48.99 (a)
worm
(Caenorhabditis elegans)
Secernentea mua-3 36
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 4 (a)
OneToMany
Species with no ortholog for EGFL6:
  • 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
rs16979010 - 13,594,844(+) CATGC(A/G)AACCT reference, missense
rs34613284 - 13,603,406(+) GACTC(C/T)GCCTG reference, missense
rs34550481 - 13,627,249(+) CAGTT(G/T)TATCA reference, missense
rs16979033 - 13,633,036(+) CAGTG(A/G)ATGGC reference, missense
rs1986396 -- 13,572,639(-) ATGTT(G/T)TAAGG intron-variant

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

HapMap Linkage Disequilibrium report
EGFL6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EGFL6 Gene

Disorders for EGFL6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EGFL6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bladder diverticulum
  • diverticulum - bladder
- elite association - COSMIC cancer census association via MalaCards
Search EGFL6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EGFL6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.E. (Genomics 1999) 2 3 4 67
  2. A genome-wide association study of brain lesion distribution in multiple sclerosis. (PMID: 23412934) Gourraud P.A. … Baranzini S.E. (Brain 2013) 3
  3. 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
  4. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3
  5. EGFL6 is increasingly expressed in human obesity and promotes proliferation of adipose tissue-derived stromal vascular cells. (PMID: 20574786) Oberauer R. … Neubauer H. (Mol. Cell. Biochem. 2010) 3

Products for EGFL6 Gene

Sources for EGFL6 Gene

Back to Top

Content