Property Summary

NCBI Gene PubMed Count 36
PubMed Score 165.34
PubTator Score 98.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
posterior fossa group B ependymoma 1.600 5.4e-14
psoriasis -1.500 1.2e-03
glioblastoma -1.200 3.3e-05
interstitial cystitis -1.100 5.5e-04
adult high grade glioma -1.200 3.1e-03
ulcerative colitis -1.400 3.5e-06

 GO Process (2)

Gene RIF (27)

PMID Text
26475232 SLC20A2 variant was identified in a family with CHRNB2 mutation, brain calcifications and generalized tonic-clonic seizures.
26129893 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.
25958344 Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
25906927 Currently, mutations in SLC20A2 gene have been identified as pathogenic for Familial idiopathic basal ganglia calcification.
25726928 A summary of SLC20A2 variants reported in patients with primary familial brain calcification (review).
25686613 The SLC20A2 mutation leading to the accumulation of calcium salts in the brain.
25636102 Familial idiopathic basal ganglia calcification caused by the SLC20A2 gene mutation can manifest as juvenile onset paroxysmal kinesigenic dyskinesia.
25348593 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
25284758 This molecular analysis expands the mutational spectrum of SLC20A2, which remains the major causative gene of primary familial brain calcification.
25212438 The mutation of SLC20A2 cause primary familial brain calcifications.
24463626 SLC20A2 mutations are a major cause of familial idiopathic basal ganglia calcification in Japan
24135862 deletion of SLC20A2 and THAP1 may have a role in familial basal ganglia calcification with dystonia [case report and family study]
24065723 SLC20A2 and PDGFRB mutations result in different idiopathic basal ganglia calcification phenotypes.
23939468 Our study supports the hypothesis that SLC20A2 is a causative gene of Idiopathic basal ganglia calcification.
23437308 we identified a novel SLC20A2 mutation, which causes a significant decrease in SLC20A2 mRNA expression.
23406454 This finding reinforces the relevance of the SLC20A2 gene to the etiopathogeny of familial idiopathic basal ganglia calcification
23334463 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.
23122642 Mutations in the underlying disease genes ENPP1, ABCC6, NT5E, and SLC20A2, respectively, lead to arterial media calcification.
22327515 Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
21586110 the human PiT2 histidine, H(502), and the human PiT1 glutamate, E(70),--both conserved in eukaryotic PiT family members--are critical for P(i) transport function
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
17494632 Analysis of kinetics and substrate specificity of SLC20A2.
16790504 Results describe the characterization of transport mechanisms and determinants critical for sodium-dependent phosphate symport of the PiT family paralogs human PiT1 and PiT2.
15955065 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
15308749 structure activity relationship of deletion mutants of Pit2 retroviral receptor [Pit2]
12205090 Two highly conserved glutamate residues critical for sodium-dependent phosphate transport are revealed by uncoupling transport function from retroviral receptor function.
11932396 forms assemblies at cell surface

AA Sequence

MAMDEYLWMVILGFIIAFILAFSVGANDVANSFGTAVGSGVVTLRQACILASIFETTGSVLLGAKVGETI      1 - 70
RKGIIDVNLYNETVETLMAGEVSAMVGSAVWQLIASFLRLPISGTHCIVGSTIGFSLVAIGTKGVQWMEL     71 - 140
VKIVASWFISPLLSGFMSGLLFVLIRIFILKKEDPVPNGLRALPVFYAATIAINVFSIMYTGAPVLGLVL    141 - 210
PMWAIALISFGVALLFAFFVWLFVCPWMRRKITGKLQKEGALSRVSDESLSKVQEAESPVFKELPGAKAN    211 - 280
DDSTIPLTGAAGETLGTSEGTSAGSHPRAAYGRALSMTHGSVKSPISNGTFGFDGHTRSDGHVYHTVHKD    281 - 350
SGLYKDLLHKIHIDRGPEEKPAQESNYRLLRRNNSYTCYTAAICGLPVHATFRAADSSAPEDSEKLVGDT    351 - 420
VSYSKKRLRYDSYSSYCNAVAEAEIEAEEGGVEMKLASELADPDQPREDPAEEEKEEKDAPEVHLLFHFL    421 - 490
QVLTACFGSFAHGGNDVSNAIGPLVALWLIYKQGGVTQEAATPVWLLFYGGVGICTGLWVWGRRVIQTMG    491 - 560
KDLTPITPSSGFTIELASAFTVVIASNIGLPVSTTHCKVGSVVAVGWIRSRKAVDWRLFRNIFVAWFVTV    561 - 630
PVAGLFSAAVMALLMYGILPYV                                                    631 - 652
//

Text Mined References (43)

PMID Year Title
26475232 2015 Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
26129893 2015 Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
25958344 2015 A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.
25906927 2015 Genetics and molecular biology of brain calcification.
25726928 2015 Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
25686613 2015 Primary familial brain calcification: update on molecular genetics.
25636102 2015 [Clinical features of familial idiopathic basal ganglia calcification caused by a novel mutation in the SLC20A2 gene].
25348593 2014 Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia.
25284758 2014 Primary familial brain calcification: Genetic analysis and clinical spectrum.
25212438 2014 The genetics of primary familial brain calcifications.
24463626 2014 Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24135862 2014 SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.
24065723 2013 Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
23939468 2013 Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.
23437308 2013 Association between a novel mutation in SLC20A2 and familial idiopathic basal ganglia calcification.
23406454 2013 Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification.
23334463 2013 Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23122642 2012 Genetics in arterial calcification: lessons learned from rare diseases.
22327515 2012 Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
21586110 2011 Mapping of the minimal inorganic phosphate transporting unit of human PiT2 suggests a structure universal to PiT-related proteins from all kingdoms of life.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
17494632 2007 Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements.
16790504 2006 Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15955065 2005 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.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15308749 2004 The central half of Pit2 is not required for its function as a retroviral receptor.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12205090 2002 Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function.
11435563 2001 Identification of envelope determinants of feline leukemia virus subgroup B that permit infection and gene transfer to cells expressing human Pit1 or Pit2.
11356966 2001 Transmembrane topology of PiT-2, a phosphate transporter-retrovirus receptor.
9151850 1997 The amphotropic murine leukemia virus receptor gene encodes a 71-kilodalton protein that is induced by phosphate depletion.
8302848 1994 A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family.
8041748 1994 Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters.
7966619 1994 A family of retroviruses that utilize related phosphate transporters for cell entry.
7745689 1995 The envelope glycoprotein of an amphotropic murine retrovirus binds specifically to the cellular receptor/phosphate transporter of susceptible species.
1656098 1991 Localization of the amphotropic murine leukemia virus receptor gene to the pericentromeric region of human chromosome 8.