Disease-gene associations mined from literature

Literature associating SLC20A2 and childhood hypophosphatasia

SLC20A2 [ENSP00000340465]

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 siginificantly 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; Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family.

Synonyms:  SLC20A2,  SLC20A2p,  hSLC20A2,  E5RGG8,  E5RGJ6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM