SLC20A2

Summary

Gene Symbol: SLC20A2
Description: solute carrier family 20 member 2
Alias: GLVR-2, GLVR2, IBGC1, IBGC3, MLVAR, PIT-2, PIT2, RAM1, Ram-1, sodium-dependent phosphate transporter 2, gibbon ape leukemia virus receptor 2, murine leukemia virus, amphotropic, receptor for, murine leukemia virus, amphotropic; receptor, solute carrier family 20 (phosphate transporter), member 2
Species: human
Products:     SLC20A2

Top Publications

  1. Bøttger P, Hede S, Grunnet M, Høyer B, Klaerke D, Pedersen L. Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2. Am J Physiol Cell Physiol. 2006;291:C1377-87 pubmed
    ..The mammalian PiT paralogs PiT1 and PiT2 are Na(+)-dependent P(i) (NaP(i)) transporters and are exploited by a group of retroviruses for cell entry...
  2. Miller D, Miller A. A family of retroviruses that utilize related phosphate transporters for cell entry. J Virol. 1994;68:8270-6 pubmed
  3. Bottger P, Pedersen L. Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function. J Biol Chem. 2002;277:42741-7 pubmed
    Type III sodium-dependent phosphate (NaP(i)) cotransporters, Pit1 and Pit2, have been assigned housekeeping P(i) transport functions and suggested involved in chondroblastic and osteoblastic mineralization and ectopic calcification...
  4. Kavanaugh M, Miller D, Zhang W, Law W, Kozak S, Kabat D, et al. Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters. Proc Natl Acad Sci U S A. 1994;91:7071-5 pubmed
    ..Accordingly, depletion of extracellular phosphate increased Ram-1 and Glvr-1 expression 3- to 5-fold. These results suggest simple methods to modulate retroviral receptor expression, with possible applications to human gene therapy...
  5. van Zeijl M, Johann S, Closs E, Cunningham J, Eddy R, Shows T, et al. A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family. Proc Natl Acad Sci U S A. 1994;91:1168-72 pubmed
    ..Expression of this protein (GLVR-2) is likely to be a requirement for infection of human cells by amphotropic retroviral vectors for purposes of gene therapy...
  6. Bøttger P, Pedersen L. The central half of Pit2 is not required for its function as a retroviral receptor. J Virol. 2004;78:9564-7 pubmed
    The type III sodium-dependent phosphate (NaPi) cotransporter, Pit2, is a receptor for amphotropic murine leukemia virus (A-MuLV) and 10A1 MuLV...
  7. Bøttger P, Pedersen L. Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life. BMC Biochem. 2011;12:21 pubmed publisher
    ..Moreover, in combination, our studies of the gene structure of the human PiT1 and PiT2 genes (SLC20A1 and SLC20A2, respectively) and alignment of protein sequences of PiT family members from all kingdoms, along with the studies ..
  8. Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012;44:254-6 pubmed publisher
    ..Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ..
  9. Bøttger P, Pedersen L. Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2. FEBS J. 2005;272:3060-74 pubmed
    ..phosphate (P(i)) transporter (PiT) family, the type III sodium-dependent phosphate (NaP(i)) transporters PiT1 and PiT2, have been assigned housekeeping P(i) transport functions and are suggested to be involved in chondroblastic and ..

More Information

Publications81

  1. Garcia J, Jones C, Miller A. Localization of the amphotropic murine leukemia virus receptor gene to the pericentromeric region of human chromosome 8. J Virol. 1991;65:6316-9 pubmed
    ..Here we report that by using human-Chinese hamster somatic cell hybrids and a retroviral vector, we have mapped the receptor for the amphotropic murine leukemia virus to the pericentromeric region of human chromosome 8. ..
  2. Ravera S, Murer H, Forster I. An externally accessible linker region in the sodium-coupled phosphate transporter PiT-1 (SLC20A1) is important for transport function. Cell Physiol Biochem. 2013;32:187-99 pubmed publisher
    ..The external accessibility of a linker in PiT-1 was confirmed and sites were identified that determine substrate selectivity and transport function. ..
  3. Sekine S, Nishii K, Masaka T, Kurita H, Inden M, Hozumi I. SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs. Biochem Biophys Res Commun. 2019;510:303-308 pubmed publisher
    ..IBGC is caused by SLC20A2 variants, which encodes the inorganic phosphate (Pi) transporter PiT-2, a transmembrane protein associated with ..
  4. Jacquillet G, Unwin R. Physiological regulation of phosphate by vitamin D, parathyroid hormone (PTH) and phosphate (Pi). Pflugers Arch. 2019;471:83-98 pubmed publisher
    ..This short review considers the control of Pi balance by vitamin D, PTH and Pi itself, with an emphasis on the insights gained from human genetic disorders and genetically modified mouse models. ..
  5. Huang Y, Zhang L, Li M, Cheng L, Zou G, Zhou H. A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family. Brain Res Bull. 2019;: pubmed publisher
    ..Previous studies reported that SLC20A2, PDGFRB, PDGFB, XPR1 and MYORG are associated with PFBC, with SLC20A2 the main culprit...
  6. Yamada S, Leaf E, Chia J, Cox T, Speer M, Giachelli C. PiT-2, a type III sodium-dependent phosphate transporter, protects against vascular calcification in mice with chronic kidney disease fed a high-phosphate diet. Kidney Int. 2018;94:716-727 pubmed publisher
    ..Thus, PiT-2 in vascular smooth muscle cells protects against phosphate-induced vascular calcification and may be a therapeutic target in the chronic kidney disease population. ..
  7. Schlieper G. Impact of cellular phosphate handling on vascular calcification. Kidney Int. 2018;94:655-656 pubmed publisher
    ..describe a protective role of Pit-2 within this context by using PiT-2 heterozygous mice with CKD fed a high-phosphate diet. The mechanisms still need to be elucidated. Pit-2 could become a potential therapeutic target. ..
  8. Konno T, Blackburn P, Rozen T, Van Gerpen J, Ross O, Atwal P, et al. Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant. Neurol Neurochir Pol. 2018;52:386-389 pubmed publisher
    To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation. We conducted historical, genealogical, clinical, and radiologic studies of a family with PFBC...
  9. Albano G, Moor M, Dolder S, Siegrist M, Wagner C, Biber J, et al. Sodium-dependent phosphate transporters in osteoclast differentiation and function. PLoS ONE. 2015;10:e0125104 pubmed publisher
  10. Karak T, Sonar I, Nath J, Paul R, Das S, Boruah R, et al. Struvite for composting of agricultural wastes with termite mound: Utilizing the unutilized. Bioresour Technol. 2015;187:49-59 pubmed publisher
    ..The four composts formed two (pit 1, pit 2 and pit 3, pit 4) different groups. Two principal components expressed more than 97% of the total variability...
  11. Kubo S, Takagi Kimura M, Kasahara N. Efficient tumor transduction and antitumor efficacy in experimental human osteosarcoma using retroviral replicating vectors. Cancer Gene Ther. 2019;26:41-47 pubmed publisher
    ..These data indicate that AMLV vectors predominate over GALV in human osteosarcoma cells. Moreover, our findings support the potential utility of the two RRVs in personalized cancer virotherapy on the basis of receptor expression. ..
  12. Jensen N, Schrøder H, Hejbøl E, Thomsen J, Brüel A, Larsen F, et al. Mice Knocked Out for the Primary Brain Calcification-Associated Gene Slc20a2 Show Unimpaired Prenatal Survival but Retarded Growth and Nodules in the Brain that Grow and Calcify Over Time. Am J Pathol. 2018;188:1865-1881 pubmed publisher
    ..Four PFBC-associated genes are known; approximately 40% of patients carry mutations in the gene SLC20A2, which encodes the type III sodium-dependent inorganic phosphate transporter PiT2...
  13. Hozumi I, Kurita H, Ozawa K, Furuta N, Inden M, Sekine S, et al. Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1). J Neurol Sci. 2018;388:150-154 pubmed publisher
    ..Mutations in SLC20A2 (IBGC1 (merged with former IBGC2 and IBGC3)), which encodes PiT-2, a phosphate transporter, is the major cause of ..
  14. Gebus O, Montaut S, Monga B, Wirth T, Chéraud C, Alves do Rego C, et al. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work. J Neurol. 2017;264:1118-1126 pubmed publisher
    ..most frequent cause was inherited diseases (including spinocerebellar ataxias, late-onset Friedreich's disease, SLC20A2 mutations, FXTAS, MELAS, and other mitochondrial diseases) (n = 9), followed by immune-mediated or other ..
  15. Maawy A, Hiroshima Y, Zhang Y, Garcia Guzman M, Luiken G, Kobayashi H, et al. Photoimmunotherapy lowers recurrence after pancreatic cancer surgery in orthotopic nude mouse models. J Surg Res. 2015;197:5-11 pubmed publisher
    ..Further studies are warranted to investigate the potential toxicities of PIT, especially with regard to anastomoses, such as those involved in pancreaticoduodenectomy. ..
  16. Ramos E, Carecchio M, Lemos R, Ferreira J, Legati A, Sears R, et al. Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018;26:1462-1477 pubmed publisher
    ..It is typically inherited as an autosomal-dominant trait with four causative genes identified so far: SLC20A2, PDGFRB, PDGFB, and XPR1...
  17. Legati A, Giovannini D, Nicolas G, López Sánchez U, Quintáns B, Oliveira J, et al. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet. 2015;47:579-81 pubmed publisher
    ..by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations...
  18. Zhang X, Ma G, Zhao Z, Zhu M. SCL20A2 mutation presenting with acute ischemic stroke: a case report. BMC Neurol. 2018;18:11 pubmed publisher
    ..However, cerebrovascular attack was rarely reported in PFBC patients. We here reported a SLC20A2 mutation patient presenting with acute ischemic stroke...
  19. Wallingford M, Gammill H, Giachelli C. Slc20a2 deficiency results in fetal growth restriction and placental calcification associated with thickened basement membranes and novel CD13 and lamininα1 expressing cells. Reprod Biol. 2016;16:13-26 pubmed publisher
    ..parameters for placental phosphate transport match those of the type III phosphate transporters, Slc20a1 and Slc20a2. Both members are expressed in human placenta, and their altered expression is linked to preeclampsia...
  20. Jensen N, Autzen J, Pedersen L. Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid. Neurogenetics. 2016;17:125-30 pubmed publisher
    Mutations in the SLC20A2-gene encoding the inorganic phosphate (Pi) transporter PiT2 can explain approximately 40% of the familial cases of the rare neurodegenerative disorder primary familial brain calcification (Fahr's disease)...
  21. Wallingford M, Chia J, Leaf E, Borgeia S, Chavkin N, Sawangmake C, et al. SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification. Brain Pathol. 2017;27:64-76 pubmed publisher
    ..has been genetically linked to autosomal dominant mutations in the sodium-dependent phosphate co-transporter, SLC20A2. The mechanisms whereby deficiency of Slc20a2 leads to basal ganglion calcification are unknown...
  22. KNOWLES J, Santoro J, Porter B, Baumer F. Refractory focal epilepsy in a paediatric patient with primary familial brain calcification. Seizure. 2018;56:50-52 pubmed publisher
    ..The patient was found to have a SLC20A2 mutation known to be pathogenic in PFBC, as well as a variant of unknown significance in SCN2A...
  23. Kostić V, Petrović I. Brain Calcification and Movement Disorders. Curr Neurol Neurosci Rep. 2017;17:2 pubmed publisher
    ..Heterozygous mutations in four genes (SLC20A2, PDGFRB, PDGFB, XPR1) have recently proved to be the causes of the autosomal dominant forms of PFBC, also ..
  24. Bon N, Frangi G, Sourice S, Guicheux J, Beck Cormier S, Beck L. Phosphate-dependent FGF23 secretion is modulated by PiT2/Slc20a2. Mol Metab. 2018;11:197-204 pubmed publisher
    ..We recently showed in vitro that the two high-affinity Na+-Pi co-transporters PiT1/Slc20a1 and PiT2/Slc20a2 were required for mediating Pi-dependent signaling...
  25. Keasey M, Lemos R, Hagg T, Oliveira J. Vitamin-D receptor agonist calcitriol reduces calcification in vitro through selective upregulation of SLC20A2 but not SLC20A1 or XPR1. Sci Rep. 2016;6:25802 pubmed publisher
    ..expression of two phosphate transporters which we have found to be associated with primary brain calcification (SLC20A2, whose promoter has a predicted vitamin D receptor binding site, and XPR1), and one unassociated (SLC20A1), in an ..
  26. Yao X, Wang C, Su H, Guo X, Lü Y, Zhao M, et al. Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification. Gene. 2016;: pubmed publisher
    Until recently, primary familial brain calcification (PFBC) has been determined by four genes, SLC20A2, PDGFRB, PDGFB and XPR1. No studies have been carried out to analyze the gene mutation of PDGFB in Chinese population...
  27. Aniteli T, de Siqueira F, dos Reis L, Dominguez W, de Oliveira E, Castelucci P, et al. Effect of variations in dietary Pi intake on intestinal Pi transporters (NaPi-IIb, PiT-1, and PiT-2) and phosphate-regulating factors (PTH, FGF-23, and MEPE). Pflugers Arch. 2018;470:623-632 pubmed publisher
    ..Uremia may be a determining factor that explains the expressional modulation of the cotransporters in the small intestine segments. ..
  28. Wang C, Yao X, Chen H, Lai J, Guo X, Su H, et al. Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families. J Hum Genet. 2017;62:697-701 pubmed publisher
    Four causative genes, including solute carrier family 20 member 2 (SLC20A2), platelet-derived growth factor receptor b (PDGFRB), platelet-derived growth factor b (PDGFB)and xenotropic and polytropic retrovirus receptor 1 (XPR1), have ..
  29. Quintans B, Oliveira J, Sobrido M. Primary familial brain calcifications. Handb Clin Neurol. 2018;147:307-317 pubmed publisher
    ..In the past years PFBC causal mutations have been discovered in genes related to calcium phosphate homeostasis (SLC20A2, XPR1) and in genes involved with endothelial function and integrity (PDGFB, PDGFRB)...
  30. Inden M, Iriyama M, Zennami M, Sekine S, Hara A, Yamada M, et al. The type III transporters (PiT-1 and PiT-2) are the major sodium-dependent phosphate transporters in the mice and human brains. Brain Res. 2016;1637:128-136 pubmed publisher
    PiT-1/SLC20A1 and PiT-2/SLC20A2 are members of the mammalian type-III inorganic phosphate (Pi) transporters encoded by the SLC20 genes...
  31. Paiva D, Keasey M, Oliveira J. MiR-9-5p Down-Regulates PiT2, but not PiT1 in Human Embryonic Kidney 293 Cells. J Mol Neurosci. 2017;62:28-33 pubmed publisher
    Inorganic phosphate (Pi) is an essential component for structure and metabolism. PiT1 (SLC20A1) and PiT2 (SLC20A2) are members of the mammalian type-III inorganic phosphate transporters...
  32. Wagner C, Rubio Aliaga I, Hernando N. Renal phosphate handling and inherited disorders of phosphate reabsorption: an update. Pediatr Nephrol. 2019;34:549-559 pubmed publisher
    ..located in the brush border membrane of the proximal tubule: NaPi-IIa (SLC34A1), NaPi-IIc (SLC34A3), and Pit-2 (SLC20A2)...
  33. Moura D, Oliveira J. XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders. J Mol Neurosci. 2015;57:519-21 pubmed publisher
    ..Four genes were confirmed as causative of PFBC: SLC20A2, PDGFB, PDGFRB, and XPR1...
  34. Anheim M, López Sánchez U, Giovannini D, Richard A, Touhami J, N Guyen L, et al. XPR1 mutations are a rare cause of primary familial brain calcification. J Neurol. 2016;263:1559-64 pubmed publisher
    ..Using Sanger sequencing, we screened XPR1 in 18 unrelated patients with PFBC and no SLC20A2, PDGFB, or PDGFRB mutation...
  35. Deng H, Zheng W, Jankovic J. Genetics and molecular biology of brain calcification. Ageing Res Rev. 2015;22:20-38 pubmed publisher
    ..The aim of the review is to highlight clinical disorders associated with brain calcification and provide summary of current knowledge of diagnosis, genetics, and pathogenesis of brain calcification. ..
  36. David S, Ferreira J, Quenez O, Rovelet Lecrux A, Richard A, Verin M, et al. Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing. Eur J Hum Genet. 2016;24:1630-1634 pubmed publisher
    Primary brain calcification (PBC) is a dominantly inherited calcifying disorder of the brain. SLC20A2 loss-of-function variants account for the majority of families...
  37. Ravera S, Virkki L, Murer H, Forster I. Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements. Am J Physiol Cell Physiol. 2007;293:C606-20 pubmed
    ..Significantly, in contrast to type II Na(+)-P(i) cotransporters, the transport inhibitor phosphonoformic acid did not inhibit PiT-1 or PiT-2 activity...
  38. Nicolas G, Pottier C, Charbonnier C, Guyant Marechal L, Le Ber I, Pariente J, et al. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain. 2013;136:3395-407 pubmed publisher
    ..The first causal genes, SLC20A2 and PDGFRB, have recently been reported...
  39. Fjaer R, Brodtkorb E, Øye A, Sheng Y, Vigeland M, Kvistad K, et al. Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2. Eur J Med Genet. 2015;58:624-8 pubmed publisher
    ..brain calcification (PFBC) has increased considerably in recent years due to the finding of causal genes like SLC20A2, PDGFRB and PDGFB. The phenotype of PFBC is complex and has as of yet been poorly delineated...
  40. Nitschke Y, Rutsch F. Genetics in arterial calcification: lessons learned from rare diseases. Trends Cardiovasc Med. 2012;22:145-9 pubmed publisher
    ..of GACI, PXE, CALJA, and IBGC, it can be speculated that the underlying disease genes-ENPP1, ABCC6, NT5E, and SLC20A2, respectively-drive a cohesive molecular pathophysiology system modulated by ATP metabolism, inorganic ..
  41. Batla A, Tai X, Schottlaender L, Erro R, Balint B, Bhatia K. Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes. Parkinsonism Relat Disord. 2017;37:1-10 pubmed publisher
    ..b>SLC20A2 was the most common gene involved with 75 out of 137 cases included with PFBC (55%) followed by PDGFB (31%) and ..
  42. Yamada S, Wallingford M, Borgeia S, Cox T, Giachelli C. Loss of PiT-2 results in abnormal bone development and decreased bone mineral density and length in mice. Biochem Biophys Res Commun. 2018;495:553-559 pubmed publisher
  43. Chen W, Yao X, Zhang Q, Ni W, He J, Li H, et al. Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. Gene. 2013;529:159-62 pubmed publisher
    ..Recently, SLC20A2 was identified as a causative gene for familial IBGC, and three mutations were reported in a northern Chinese ..
  44. Zhu M, Fang C, Li X, Zhou M, Wan H, Hong D. [Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32:64-8 pubmed publisher
    ..Chinese family with familial idiopathic basal ganglia calcification 3 (IBGC-3) caused by a novel mutation in the SLC20A2 gene. Clinical data was collected from a family with familial IBGC-3...
  45. Lemos R, Ramos E, Legati A, Nicolas G, Jenkinson E, Livingston J, et al. Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. Hum Mutat. 2015;36:489-95 pubmed publisher
    ..So far, variants in three genes have been linked to PFBC: SLC20A2, PDGFRB, and PDGFB...
  46. Bon N, Couasnay G, Bourgine A, Sourice S, Beck Cormier S, Guicheux J, et al. Phosphate (Pi)-regulated heterodimerization of the high-affinity sodium-dependent Pi transporters PiT1/Slc20a1 and PiT2/Slc20a2 underlies extracellular Pi sensing independently of Pi uptake. J Biol Chem. 2018;293:2102-2114 pubmed publisher
    ..study, we investigated the involvement of the high-affinity, sodium-dependent Pi transporters PiT1 and PiT2 in mediating Pi signaling in skeletal cells...
  47. Nicolas G, Charbonnier C, Campion D, Veltman J. Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification. Am J Med Genet B Neuropsychiatr Genet. 2017;: pubmed publisher
    ..Four causal genes have been identified so far: SLC20A2, PDGFB, PDGFRB, and XPR1, with pathogenic, probably pathogenic or missense variants of unknown significance found ..
  48. Taglia I, Formichi P, Battisti C, Peppoloni G, Barghigiani M, Tessa A, et al. Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization. J Cell Physiol. 2017;: pubmed publisher
    ..Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB, and XPR1...
  49. Zhang Y, Guo X, Wu A. Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification. PLoS ONE. 2013;8:e57060 pubmed publisher
    ..from the peripheral blood of available family members, and both exonic and flanking intronic sequences of the SLC20A2 gene were amplified by PCR and then sequenced...
  50. Kozak S, Siess D, Kavanaugh M, Miller A, Kabat D. The envelope glycoprotein of an amphotropic murine retrovirus binds specifically to the cellular receptor/phosphate transporter of susceptible species. J Virol. 1995;69:3433-40 pubmed
    ..We conclude that amphotropic gp70 binds more strongly to rRam-1 than to the homologous hamster protein and that this stable attachment is necessary for infection, interference, membrane fusion, and pathogenesis. ..
  51. Koyama S, Sato H, Kobayashi R, Kawakatsu S, Kurimura M, Wada M, et al. Clinical and radiological diversity in genetically confirmed primary familial brain calcification. Sci Rep. 2017;7:12046 pubmed publisher
    ..This condition is typically transmitted in an autosomal dominant fashion. To date, mutations in SLC20A2, PDGFRB, PDGFB, and XPR1 have been reported to cause PFBC...
  52. Yamada M, Tanaka M, Takagi M, Kobayashi S, Taguchi Y, Takashima S, et al. Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan. Neurology. 2014;82:705-12 pubmed publisher
    ..Mutational analysis of SLC20A2 was performed...
  53. Larsen F, Jensen N, Autzen J, Kongsfelt I, Pedersen L. Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells. J Mol Neurosci. 2017;61:215-220 pubmed publisher
    ..In recent years, monoallelic variants in SLC20A2, which encodes the type III sodium-dependent inorganic phosphate (Pi) transporter 2 (PiT2), have been ..
  54. Nicolas G, Charbonnier C, de Lemos R, Richard A, Guillin O, Wallon D, et al. Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Am J Med Genet B Neuropsychiatr Genet. 2015;168:586-94 pubmed publisher
    ..Three causative genes have been identified: SLC20A2, PDGFRB and, recently, PDGFB, whose associated phenotype has not yet been extensively studied...
  55. Taglia I, Mignarri A, Olgiati S, Menci E, Petrocelli P, Breedveld G, et al. Primary familial brain calcification: Genetic analysis and clinical spectrum. Mov Disord. 2014;29:1691-5 pubmed publisher
    ..So far, three causative genes have been discovered: SLC20A2, PDGFRB and PDGFB, accounting for approximately 50% of cases...
  56. Sekine S, Kondo T, Murakami N, Imamura K, Enami T, Shibukawa R, et al. Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene. Stem Cell Res. 2017;24:40-43 pubmed publisher
    ..The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p...
  57. Salaun C, Gyan E, Rodrigues P, Heard J. Pit2 assemblies at the cell surface are modulated by extracellular inorganic phosphate concentration. J Virol. 2002;76:4304-11 pubmed
    b>Pit2 is a type III sodium-dependent phosphate transporter and the cell surface receptor for amphotropic murine leukemia virus...
  58. Pasanen P, Makinen J, Myllykangas L, Guerreiro R, Bras J, Valori M, et al. Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. Acta Neurol Scand. 2017;136:59-63 pubmed publisher
    ..Mutations in four genes (SLC20A2, PDGFB, PDGFRB, and XPR1) have been reported in patients with PFBC...
  59. Frei P, Gao B, Hagenbuch B, Mate A, Biber J, Murer H, et al. Identification and localization of sodium-phosphate cotransporters in hepatocytes and cholangiocytes of rat liver. Am J Physiol Gastrointest Liver Physiol. 2005;288:G771-8 pubmed
    ..We conclude that NaPi-IIb is most probably involved in the reabsorption of P(i) from primary hepatic bile and thus might play an important role in the regulation of biliary P(i) concentration...
  60. Hsu S, Sears R, Lemos R, Quintans B, Huang A, Spiteri E, et al. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013;14:11-22 pubmed publisher
    ..We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC...
  61. Taglia I, Bonifati V, Mignarri A, Dotti M, Federico A. Primary familial brain calcification: update on molecular genetics. Neurol Sci. 2015;36:787-94 pubmed publisher
    ..To date, three causative genes have been found: SLC20A2, PDGFRB and PDGFB...
  62. Yao X, Zhao M, Wang C, Guo X, Su H, Dong E, et al. Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification. Cell Tissue Res. 2017;370:267-273 pubmed publisher
    ..the distribution and basic function of XPR1 and its interaction with the other three pathogenic genes for PFBC (SLC20A2, PDGFRB and PDGFB). The aim of this study was to further clarify the role of XPR1 in PFBC brain pathology...
  63. Gagliardi M, Morelli M, Annesi G, Nicoletti G, Perrotta P, Pustorino G, et al. A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. Gene. 2015;568:109-11 pubmed publisher
    ..Three causative genes have been reported: SLC20A2, PDGFRB and PDGFB. We screened three PFBC Italian families for mutations in the SLC20A2, PDGFRB and PDGFB genes...
  64. Brighina L, Saracchi E, Ferri F, Gagliardi M, Tarantino P, Morzenti S, et al. Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia. Neurodegener Dis. 2014;14:133-8 pubmed publisher
    ..The recently identified IBGC gene, SLC20A2, encodes for type III sodium-dependent phosphate transporter 2 and its loss-of-function mutations may lead to the ..
  65. Westenberger A, Klein C. The genetics of primary familial brain calcifications. Curr Neurol Neurosci Rep. 2014;14:490 pubmed publisher
    ..In the past 2 years, 3 genes have been identified to cause PFBC, (ie, SLC20A2, PDGFRB, and PDGFB)...
  66. Baker M, Strongosky A, Sanchez Contreras M, Yang S, Ferguson W, Calne D, et al. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics. 2014;15:23-30 pubmed publisher
    ..In this study, we set out to determine the frequency of the recently identified IBGC gene SLC20A2 in 27 IBGC cases from the Mayo Clinic Florida Brain Bank using both Sanger sequencing and TaqMan copy number ..
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    ..So far, four genes have been reported with variations associated with PFBC, SLC20A2, PDGFβ, PDGFRβ, and XPR1...
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  70. Grütz K, Volpato C, Domingo A, Alvarez Fischer D, Gebert U, Schifferle G, et al. Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. Mov Disord. 2016;31:1901-1904 pubmed publisher
    ..Recently, SLC20A2 mutations were found in the IBGC1 and IBGC3 families, merging these 2 loci...
  71. Takase N, Inden M, Sekine S, Ishii Y, Yonemitsu H, Iwashita W, et al. Neuroprotective effect of 5-aminolevulinic acid against low inorganic phosphate in neuroblastoma SH-SY5Y cells. Sci Rep. 2017;7:5768 pubmed publisher
    PiT-1 (encoded by SLC20A1) and PiT-2 (encoded by SLC20A2) are type-III sodium-dependent phosphate cotransporters (NaPiTs)...