SLC20A2

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.

solute carrier family 20 (phosphate transporter), member 2

Sodium-phosphate symporter which seems to play a fundamental housekeeping role in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. In vitro, sodium-dependent phosphate uptake is not significantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants.

Biological Process ion transportTAS:Reactome
Biological Process phosphate ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central

Cell membrane

Basal ganglia calcification, idiopathic, 1 (IBGC1):
A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

Extracellular: 1-5
Helical: 6-26
Cytoplasmic: 27-46
Helical: 47-67
Extracellular: 68-86
Helical: 87-107
Cytoplasmic: 108-109
Helical: 110-130
Extracellular: 131-142
Helical: 143-163
Cytoplasmic: 164-190
Helical: 191-211
Extracellular: 212-213
Helical: 214-234
Cytoplasmic: 235-482
Helical: 483-503
Extracellular: 504-530
Helical: 531-551
Cytoplasmic: 552-571
Helical: 572-586
Extracellular: 587-593
Helical: 594-609
Cytoplasmic: 610-621
Helical: 622-642
Extracellular: 643-652