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FLASH GENE
Symbol EDN2 contributors: mct - updated : 19-03-2014
HGNC name endothelin 2
HGNC id 3177
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       gain of function
in basal cell carcinoma under control of Hedgehog signaling pathway
tumoral       loss of function
occurs frequently in colon cancers
Susceptibility for essential hypertension
Variant & Polymorphism other the EDN2 A985 allele may be a risk factor for atrial fibrillation in patients with hypertrophic cardiomyopathy (Nagai 2007)
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancerurinary 
could represent a potential target for chemopreventive or neoadjuvant therapeutics for clear cell renal cell carcinoma
ANIMAL & CELL MODELS
  • Edn2 overexpression in the early embryo inhibits vascular development at midgestation, but Edn2 overexpression in developing skin and brain has no discernible effect on vascular structure
  • Edn2 overexpression in the developing mouse retina potently and specifically inhibits retinal angiogenesis and promotes the tip cell state