Property Summary

NCBI Gene PubMed Count 37
Grant Count 22
R01 Count 17
Funding $1,782,008.01
PubMed Score 71.59
PubTator Score 64.10

Knowledge Summary

Patent

No data available

Gene RIF (19)

PMID Text
26047794 The identification of autosomal-recessive SLC34A1 mutations in infants with idiopathic infantile hypercalcemia now demonstrates a crucial role of renal sodium-phosphate cotransporter 2A for calcium metabolism as well as phosphate balance in humans
25608964 Estrogen downregulated NaPi-IIa only in U20S cells expressing both ERalpha and ERbeta, but not in cells expressing either receptor alone.
25050900 A novel homozygous mutation in the gene encoding the renal sodium-dependent phosphate transporter SLC34A1 was identified in two siblings with hypercalcemia, hypercalciuria, hypophosphatemia, low parathyroid hormone (PTH), and nephrocalcinosis.
24258620 B-RAF increases the cell surface protein abundance and activity of the type II Na+-coupled phosphate transporters NaPi-IIa and NaPi-IIb.
23313484 JAK2 contributes to the regulation of phosphate transporter NaPiIIa
22506049 Results indicate that the PDZ1 domain is critical for NHERF1-NPT2a interaction in humans and for the control of NPT2a expression at the plasma membrane.
21597970 Our cases suggest a contiguous gene deletion syndrome including NSD1 and SLC34A1 and provide a potential genetic basis for idiopathic infantile hypercalcemia.
20558539 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
20383146 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20335586 These findings show that disruption of the human NaPi-IIa profoundly impairs overall renal phosphate reabsorption and proximal-tubule function and provide evidence of the critical role of NaPi-IIa in human renal phosphate handling.
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AA Sequence

MLSYGERLGSPAVSPLPVRGGHVMRGTAFAYVPSPQVLHRIPGTSAYAFPSLGPVALAEHTCPCGEVLER      1 - 70
HEPLPAKLALEEEQKPESRLVPKLRQAGAMLLKVPLMLTFLYLFVCSLDMLSSAFQLAGGKVAGDIFKDN     71 - 140
AILSNPVAGLVVGILVTVLVQSSSTSTSIIVSMVSSGLLEVSSAIPIIMGSNIGTSVTNTIVALMQAGDR    141 - 210
TDFRRAFAGATVHDCFNWLSVLVLLPLEAATGYLHHITRLVVASFNIHGGRDAPDLLKIITEPFTKLIIQ    211 - 280
LDESVITSIATGDESLRNHSLIQIWCHPDSLQAPTSMSRAEANSSQTLGNATMEKCNHIFVDTGLPDLAV    281 - 350
GLILLAGSLVLLCTCLILLVKMLNSLLKGQVAKVIQKVINTDFPAPFTWVTGYFAMVVGASMTFVVQSSS    351 - 420
VFTSAITPLIGLGVISIERAYPLTLGSNIGTTTTAILAALASPREKLSSAFQIALCHFFFNISGILLWYP    421 - 490
VPCTRLPIRMAKALGKRTAKYRWFAVLYLLVCFLLLPSLVFGISMAGWQVMVGVGTPFGALLAFVVLINV    491 - 560
LQSRSPGHLPKWLQTWDFLPRWMHSLKPLDHLITRATLCCARPEPRSPPLPPRVFLEELPPATPSPRLAL    561 - 630
PAHHNATRL                                                                 631 - 639
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Text Mined References (38)

PMID Year Title
26047794 2016 Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
25608964 2015 Estrogen directly and specifically downregulates NaPi-IIa through the activation of both estrogen receptor isoforms (ER? and ER?) in rat kidney proximal tubule.
25050900 2014 Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
24258620 2014 Upregulation of the Na?-coupled phosphate cotransporters NaPi-IIa and NaPi-IIb by B-RAF.
24068962 2013 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
23313484 2013 Stimulation of Na(+) coupled phosphate transporter NaPiIIa by janus kinase JAK2.
22703881 2012 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
22506049 2012 A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism.
22396660 2012 A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
21597970 2011 Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
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