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FLASH GENE
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
ASSOCIATED DISORDERS
corresponding disease(s) NPHLOP2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
Susceptibility
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
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    repressing SLC9A3R1 expression exhibited significant anticancer effects via the induction of G0/G1 phase arrest, apoptosis and ROS generation
    ANIMAL & CELL MODELS
  • 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