Recombinant Human Sodium-dependent phosphate transporter 2 (SLC20A2), partial

1. A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients PMID: 29578123
2. This study demonstrated that the frequently mutated gene is SLC20A2 caused primary familial brain calcifications where mutations can affect any domain of the protein. PMID: 29325620
3. The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers. PMID: 29034894
4. SLC20A2 expression is reduced in the primary brain familiar calcification patients carrying SLC20A2 mutation. PMID: 28578517
5. This review showed that SLC20A2 was the most common gene involved with 75 out of 137 cases included with brain calcification. PMID: 28162874
6. Deletion of 5' noncoding region of SLC20A2 was associated with primary familial brain calcification in a Finnish family with three affected memebers. PMID: 27726124
7. The identified SLC20A2 mutation resolves the genetic cause of primary familial brain calcification in the 'IBGC2' kindred, collapsing 'IBGC2' into IBGC1. PMID: 27671522
8. Report sub-cellular expression analysis of mutant PiT-2 in primary cultured fibroblasts from a primary familial brain calcification patient, showing that p.Trp626_Thr629dup in SLC20A2 alters PiT-2 sub-cellular localization and reduces Pi-uptake, leading to onset of PFBC in our patient. PMID: 28722801
9. Deletions of exon 2 of SLC20A2 identified in two unrelated patients segregated with primary brain calcification. PMID: 27245298
10. In mouse cells, the SLC20A2 brain calcification causal missense mutations exert their effect in a dominant negative manner resulting in decreased wild-type PiT2 Pi transport. PMID: 27943094
11. This study presented the Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation. PMID: 26860091
12. SLC20A2 variant was identified in a family with CHRNB2 mutation, brain calcifications and generalized tonic-clonic seizures. PMID: 26475232
13. Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Three causative genes have been identified: SLC20A2, PDGFRB and, recently, PDGFB, whose associated phenotype has not yet been extensively studied. PMID: 26129893
14. A summary of SLC20A2 variants reported in patients with primary familial brain calcification (review). PMID: 25726928
15. Currently, mutations in SLC20A2 gene have been identified as pathogenic for Familial idiopathic basal ganglia calcification. PMID: 25906927
16. The SLC20A2 mutation leading to the accumulation of calcium salts in the brain. PMID: 25686613
17. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. PMID: 25958344
18. clinical, neuroimaging and genetic findings in an Italian family with idiopathic basal ganglia calcification; 2 affected family members harbored a novel missense mutation, G1618A leading to gly540-to-arg (G540R) substitution in a highly conserved residue PMID: 25348593
19. This molecular analysis expands the mutational spectrum of SLC20A2, which remains the major causative gene of primary familial brain calcification. PMID: 25284758
20. Familial idiopathic basal ganglia calcification caused by the SLC20A2 gene mutation can manifest as juvenile onset paroxysmal kinesigenic dyskinesia. PMID: 25636102
21. The mutation of SLC20A2 cause primary familial brain calcifications. PMID: 25212438
22. deletion of SLC20A2 and THAP1 may have a role in familial basal ganglia calcification with dystonia [case report and family study] PMID: 24135862
23. SLC20A2 mutations are a major cause of familial idiopathic basal ganglia calcification in Japan PMID: 24463626
24. SLC20A2 and PDGFRB mutations result in different idiopathic basal ganglia calcification phenotypes. PMID: 24065723
25. Our study supports the hypothesis that SLC20A2 is a causative gene of Idiopathic basal ganglia calcification. PMID: 23939468
26. This finding reinforces the relevance of the SLC20A2 gene to the etiopathogeny of familial idiopathic basal ganglia calcification PMID: 23406454
27. we identified a novel SLC20A2 mutation, which causes a significant decrease in SLC20A2 mRNA expression. PMID: 23437308
28. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. PMID: 23334463
29. Mutations in the underlying disease genes ENPP1, ABCC6, NT5E, and SLC20A2, respectively, lead to arterial media calcification. PMID: 23122642
30. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. PMID: 22327515
31. forms assemblies at cell surface PMID: 11932396
32. structure activity relationship of deletion mutants of Pit2 retroviral receptor [Pit2] PMID: 15308749
33. the presence of an aspartic acid in either of the PiT family signature sequences is critical for the Na+-dependent P(i) transport function of human PiT2 PMID: 15955065
34. Analysis of kinetics and substrate specificity of SLC20A2. PMID: 17494632

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HGNC: 10947

OMIM: 158378

KEGG: hsa:6575

STRING: 9606.ENSP00000340465

UniGene: Hs.653173