Symbol
| SLC9A3R1
| contributors: mct/npt/pgu - updated : 10-01-2020
|
HGNC name
| solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
|
HGNC id
| 11075
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|  
| LOH
|  
|  
|
in breast carcinoma with higher aggressiveness | constitutional
|  
|  
| --over
|  
|
in the uppermost stratum Malpighi of psoriatic skin | constitutional
|  
|  
|  
| loss of function
|
leads to impairment in the function of ABCC2, a major determinant of glutathione-dependent, bile acid-independent bile flow | constitutional
| germinal mutation
|  
|  
|  
|
increased the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibited phosphate transport, leading to nephrolithiasis or bone demineralization | tumoral
|  
|  
| --over
|  
|
in circulatory peripheral lymphocytes from patients with breast cancer | tumoral
|  
|  
| --other
|  
|
significant disruption of all three members of the PTEN-SLC9A3R1-PHLPP1 tumor suppressor network in high-grade glioma | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
| SLC9A3R1 measurements in circulatory lymphocytes of breast cancer patients may be a valid method for the prediction of breast cancer occurrence and prognosis, and may have value in the management of cancer patients | Therapy target
|
System | Type | Disorder | Pubmed |
cancer | digestive | liver | |
repressing SLC9A3R1 expression exhibited significant anticancer effects via the induction of G0/G1 phase arrest, apoptosis and ROS generation |
| | |
| phosphate transport in brush border membrane vesicles and proximal tubule cells from Nherf-1-null mice were resistant to the inhibitory effect of Fgf23 | |
Nherf1-null mice display reduced bone formation and wide mineralizing fronts despite elimination of phosphate wasting by dietary supplementation |