SLCtables

SLC20A2

Protein name: PiT-2 Aliases: amphotropic murine leukemia virus receptor 2, GLVR2, Glvr-2, MLVAR Substrates: inorganic phosphate (monovalent) Transport type: Cotransporter / Na+, H2PO4- Tissue and cellular expression: widely expressed, kidney (proximal tubule) Subcellular expression: apical membrane (kidney) Disease: idiopathic basal ganglia calcification (genetic defect) Locus: 8p111 Sequence ID: NP_001244109.1, NM_001257180.1 NP_001244110.1, NM_001257181.1 NP_006740.1, NM_006749.4 Gene ID: 6575 Splice variants: N/D

S20A2_HUMAN (UniProt)

Gene names: SLC20A2, GLVR2, PIT2
Protein names and data: S20A2_HUMAN, Full=Sodium-dependent phosphate transporter 2, Full=Gibbon ape leukemia virus receptor 2;Short=GLVR-2;Full=Phosphate transporter 2;Short=PiT-2;Short=Pit2;Short=hPit2;Full=Solute carrier family 20 member 2; Length: 652 a.a., Mass: 70392 Da,
fasta formatted sequence
Function: 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
Disease: (OMIM: 158378 614540) Defects in SLC20A2 are the cause of basal ganglia calcification, idiopathic, type 3 (IBGC3) [MIM:614540]. 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
Cellular location: Cell membrane; Multi-pass membrane protein
Tissue specificity: Ubiquitously expressed

Database cross-references

UniProt: Q08357
NextBio: 25583
OMIM: 158378 614540
Ensembl: ENST00000520262
GeneCard: GC08M042393
TCDB: 2.A.20.2.3
PharmGenUCSF: SLC20A2
Guide to Pharmacology: SLC20A2 (1018)
SLC20 family of sodium-dependent phosphate transporters (1018)
HGNC: HGNC:10947

Genetic variants

See also Ensembl:ENST00000520262

42 - 42 Missing (in IBGC3; substantially impaired phosphate transport). VAR_067545
498 - 498 G -> R (in IBGC3; substantially impaired phosphate transport). VAR_067546
575 - 575 E -> K (in IBGC3; substantially impaired phosphate transport). VAR_067547
595 - 595 T -> M (in IBGC3; substantially impaired phosphate transport). VAR_067548
601 - 601 S -> L (in IBGC3; substantially impaired phosphate transport). VAR_067549
601 - 601 S -> W (in IBGC3; substantially impaired phosphate transport). VAR_067550