Property Summary

NCBI Gene PubMed Count 36
Grant Count 10
R01 Count 10
Funding $769,275.62
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 0.000
psoriasis -1.500 0.001
glioblastoma -1.200 0.000
interstitial cystitis -1.100 0.001
adult high grade glioma -1.200 0.003
ulcerative colitis -1.400 0.000

 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.
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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.
More...