Symbol
| INVS
| contributors: mct - updated : 27-06-2019
|
HGNC name
| inversin
|
HGNC id
| 17870
|
corresponding disease(s)
|
NPHP2
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
leads to impaired ventral extension and elongation of the early pronephros | constitutional
|  
|  
|  
| loss of function
|
decreases Na+ transport via SCNN1A, mediated in part by transcriptional and posttranslational regulation of CRTC2/SGK1/NEDD4L axis as a contributory mechanism for enlarged kidneys in NPHP2 | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | lung | | |
serve as a novel therapeutic target of non-small cell lung cancer |
| | | |
| reversion of left-right asymetry in animal models associated with an anomaly of cilia motility |