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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]
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.
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 |
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 |
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 | -- |
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 | -- |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EGFL6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EGFL6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EGFL6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Egfl6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Egfl6 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | EGFL6 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EGFL6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EGFL6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EGFL6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | egfl6 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | egfl6-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | egfl6 30 |
|
||
EGFL6 31 |
|
OneToOne | |||
Worm (Caenorhabditis elegans) |
Secernentea | mua-3 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3576773 | CNV | gain | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
benign meningioma |
|
|
fibrous meningioma |
|
|
secretory meningioma |
|
|