SLC20A2
Identifiers
AliasesSLC20A2, GLVR-2, GLVR2, IBGC1, IBGC3, MLVAR, PIT-2, PIT2, RAM1, Ram-1, solute carrier family 20 member 2, IBGC2
External IDsOMIM: 158378 MGI: 97851 HomoloGene: 68531 GeneCards: SLC20A2
Orthologs
SpeciesHumanMouse
Entrez

6575

20516

Ensembl

ENSG00000168575

ENSMUSG00000037656

UniProt

Q08357

Q80UP8

RefSeq (mRNA)

NM_001257180
NM_001257181
NM_006749

NM_011394

RefSeq (protein)

NP_001244109
NP_001244110
NP_006740

NP_035524

Location (UCSC)Chr 8: 42.42 – 42.54 MbChr 8: 22.97 – 23.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium-dependent phosphate transporter 2 is a protein that in humans is encoded by the SLC20A2 gene.[5][6][7]

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.[8]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168575 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037656 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. doi:10.1128/JVI.69.6.3433-3440.1995. PMC 189055. PMID 7745689.
  6. ^ 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. doi:10.1152/ajpcell.00015.2006. PMID 16790504. S2CID 6459667.
  7. ^ "Entrez Gene: SLC20A2 solute carrier family 20 (phosphate transporter), member 2".
  8. ^ 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. doi:10.1038/ng.1077. PMID 22327515. S2CID 2515200.

Further reading


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