Gene: SLC20A2

Alternate names for this Gene: GLVR-2|GLVR2|IBGC1|IBGC2|IBGC3|MLVAR|PIT-2|PIT2|RAM1|Ram-1

Gene Summary: This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8p11.21

Description of this Gene: solute carrier family 20 member 2

Type of Gene: protein-coding

rs12542076 in SLC20A2 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1357615935 in SLC20A2 gene and Idiopathic basal ganglia calcification 1 PMID 23334463 2013 Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

PMID 25284758 2014 Primary familial brain calcification: Genetic analysis and clinical spectrum.

PMID 23406454 2013 Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification.

PMID 23939468 2013 Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.

PMID 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.

PMID 24463626 2014 Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.

PMID 22327515 2012 Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

PMID 24065723 2013 Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

rs4737048 in SLC20A2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs2923427 in SLC20A2 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2978456 in SLC20A2 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.