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FLASH GENE

Symbol

EGFL7

contributors: mct/pgu - updated : 09-11-2013

HGNC name	EGF-like-domain, multiple 7
HGNC id	20594

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	9.70 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016215 10 - 1569 NP_057299 - 273 - - NM_201446 10 - 1571 NP_958854 - 273 - -

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel       specific Homo sapiens Nervous brain         Reproductive male system prostate       Respiratory lung         Urinary kidney         Visual eye uvea choroid

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens

cell lineage	endothelial progenitor cell lineage
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal sequence
	an EMI domain domain at the N-terminus (domain present in a number of extracellular-matrix-associated proteins involved in regulating cell-adhesion)
	two EGF-like domains and a leucine and valine-rich C-terminal region

HOMOLOGY

interspecies

homolog to murine Egfl7 (78.7pc)

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	playing a specific role in regulating vascular tubulogenesis
	secreted factor implicated in cellular responses such as cell migration and blood vessel formation
	acting as an antagonist of Notch signalling and affecting neural stem cell renewal
	may protect endothelial cell from hyperoxia-induced apoptosis by inhibition of mitochondria-dependent apoptosis pathway
	chemoattractant for endothelial cells, and its expression is restricted to endothelial cells
	potentially regulates angiogenesis by an autocrine mechanism involving vasculature alone
	its expression in tumors promotes tumor progression by reducing the expression of endothelial molecules that mediate immune cell infiltration
	its function in blood vessel development is mediated, at least in part, through modulation of NOTCH signaling
	role for EGFL7 in developmental and postnatal angiogenesis
	extracellular matrix-associated protein expressed in activated endothelium

CELLULAR PROCESS

cell migration & motility

PHYSIOLOGICAL PROCESS

development

text	blood vessel development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	binding transmembrane receptors of the Notch Family
	CASZ1 is required to directly regulate an EGFL7/RhoA-mediated pathway to promote vertebrate vascular development
	transcriptional pathway involving activation of EGFL7 gene by the transcription factor CASTOR (CASZ1) is required for blood vessel assembly and lumen morphogenesis

cell & other

REGULATION

activated by

hypoxia that upregulates human coronary artery endothelial cells expression of EGFL7 and EGFL7 inhibits expression of intercellular adhesion molecule 1 subsequent to Hypoxia/reoxygenation (H/R) injury

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   significantly upregulated in human epithelial tumor tissues tumoral     --over   expression is significantly higher in invasive ductal than in invasive lobular breast carcinoma constitutional     --low   with ACVRL1 showed lower expression in early-onset pre-eclampsia versus late-onset pre-eclampsia

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	potential biomarker for human epithelial tumors, especially hepatocellular carcinoma and breast cancer
Therapy target
	System Type Disorder Pubmed cancer     anti-EGFL7 antibodies enhance stress-induced endothelial cell death and anti-VEGF efficacy

ANIMAL & CELL MODELS