Symbol
| SGK1
| contributors: mct/npt/pgu - updated : 04-11-2016
|
HGNC name
| serum/glucocorticoid regulated kinase 1
|
HGNC id
| 10810
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
|  
|  
| gain of function
|
in clear cell renal carcinoma with good outcome | constitutional
|  
|  
|  
| gain of function
|
leading to hypertension but also to enhanced SLC5A1 activity and obesity | constitutional
|  
|  
| --over
|  
|
strongly correlates with the occurrence of cell death | tumoral
| somatic mutation
|  
|  
|  
|
in germinal centre B-cell | constitutional
|  
|  
|  
| gain of function
|
in Alzheimer disease (AD) | constitutional
|  
|  
|  
| loss of function
|
SGK1 deficiency impaired platelet tethering, adhesion and thrombus formation | |
Susceptibility
|
to blood pressure change over time and strength of the insulin-diastolic blood pressure relationship to type 2 diabetes |
Variant & Polymorphism
other
| polymorphisms increasing the risk of blood pressure change over time and strength of the insulin-diastolic blood pressure relationship |
|
risk haplotype (I6CC/E8CC/CT) was significantly more frequent in diabetic patients |
|
|
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cardiovascular | atheroma | | |
inhibition of SGK1 activity is a novel therapeutic approach for the treatment of occlusive vascular diseases | respiratory | lung | | |
may be a potential therapeutic target for the treatment of pulmonary arterial hypertension | immunology | inflammatory | | |
therapeutic target for the treatment of inflammatory disease |
| | | |