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SLC20A2

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Identifiers
SymbolsSLC20A2 ; GLVR-2; GLVR2; IBGC1; IBGC3; MLVAR; PIT-2; PIT2; RAM1
External IDsOMIM158378 MGI97851 HomoloGene68531 IUPHAR: 1018 GeneCards: SLC20A2 Gene
RNA expression pattern
File:PBB GE SLC20A2 202744 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez657520516
EnsemblENSG00000168575ENSMUSG00000037656
UniProtQ08357Q80UP8
RefSeq (mRNA)NM_001257180NM_011394
RefSeq (protein)NP_001244109NP_035524
Location (UCSC)Chr 8:
42.27 – 42.4 Mb
Chr 8:
22.48 – 22.57 Mb
PubMed search[1][2]

Sodium-dependent phosphate transporter 2 is a protein that in humans is encoded by the SLC20A2 gene.[1][2][3]

Genomics

This gene is found on the short arm of chromosome 8 (8p12-p11) on the minus (Crick) strand. It is 123,077 bases in length. The encoded protein has 652 amino acids and the predicted molecular weight of the protein is 70.392 kiloDaltons.

Function

The protein acts as a homodimer and is involved 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.

Clinical significance

Mutations in the SLC20a2 gene are associated with idiopathic basal ganglia calcification (Fahr's syndrome). This association suggests that familial idiopathic basal ganglia calcification is caused by changes in phosphate homeostasis, since this gene encodes for PIT-2, an inorganic phosphate transporter.[4]

See also

References

  1. ^ Kozak SL, Siess DC, Kavanaugh MP, Miller AD, Kabat D (Jun 1995). "The envelope glycoprotein of an amphotropic murine retrovirus binds specifically to the cellular receptor/phosphate transporter of susceptible species". J Virol 69 (6): 3433–40. PMC 189055. PMID 7745689. 
  2. ^ Bottger P, Hede SE, Grunnet M, Hoyer B, Klaerke DA, Pedersen L (Nov 2006). "Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2". Am J Physiol Cell Physiol 291 (6): C1377–87. PMID 16790504. doi:10.1152/ajpcell.00015.2006. 
  3. ^ "Entrez Gene: SLC20A2 solute carrier family 20 (phosphate transporter), member 2". 
  4. ^ Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY (February 2012). "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis". Nat Genet 44 (3): 254–6. PMID 22327515. doi:10.1038/ng.1077. 

Further reading

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