| Symbol
| EDN3
| contributors: mct - updated : 26-05-2015
|
| HGNC name
| endothelin 3
|
| HGNC id
| 3178
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --low
|
| |
reduction may be important in the transition from normal to cancerous cervical epithelium (Sun 2007) | | tumoral
|
|
| --low
|
| |
in cervical cancer compared with normal cervical epithelial cells (Sun 2007) | | tumoral
|
|
|
| loss of function
|
occurs frequently in colon cancers  | | constitutional
|
|
| --low
|
| |
not only affects development and function of the enteric nervous system, but also specific classes of spinal rectal mechanoreceptors, which are required for visceral nociception from the colorectum | |
| Susceptibility
|
to sporadic Hirschsprung disease |
| Variant & Polymorphism
other
| common susceptibility gene for sporadic Hirschsprung disease in a low-penetrance fashion |
| 
|
Candidate gene
Marker
Therapy target
|
| | | |
|
| mice with deletions of the endothelin-3 gene (lethal spotted mice, ls/ls) develop congenital aganglionosis |