SLC20A2

Protein-coding gene in the species Homo sapiens
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
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for SLC20A2
Genomic location for SLC20A2
Band8p11.21Start42,416,475 bp[1]
End42,541,926 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for SLC20A2
Genomic location for SLC20A2
Band8 A2|8 11.42 cMStart22,966,804 bp[2]
End23,059,628 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • left lobe of thyroid gland

  • right lobe of thyroid gland

  • popliteal artery

  • vena cava

  • corpus callosum

  • right coronary artery

  • gastrocnemius muscle

  • thoracic aorta

  • ascending aorta

  • right uterine tube
Top expressed in
  • molar

  • interventricular septum

  • extraocular muscle

  • masseter muscle

  • retinal pigment epithelium

  • lens

  • iris

  • myocardium of ventricle

  • digastric muscle

  • hair follicle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • sodium:phosphate symporter activity
  • symporter activity
  • virus receptor activity
  • inorganic phosphate transmembrane transporter activity
  • sodium:inorganic phosphate symporter activity
  • signaling receptor activity
Cellular component
  • integral component of membrane
  • plasma membrane
  • integral component of plasma membrane
  • extracellular exosome
  • membrane
Biological process
  • sodium ion transport
  • viral entry into host cell
  • phosphate ion transport
  • viral process
  • ion transport
  • sodium ion transmembrane transport
  • transmembrane transport
  • phosphate ion transmembrane transport
  • sodium-dependent phosphate transport
  • transport
Sources:Amigo / QuickGO
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

  • Garcia JV, Jones C, Miller AD (1991). "Localization of the amphotropic murine leukemia virus receptor gene to the pericentromeric region of human chromosome 8". J. Virol. 65 (11): 6316–9. doi:10.1128/JVI.65.11.6316-6319.1991. PMC 250343. PMID 1656098.
  • van Zeijl M, Johann SV, Closs E, et al. (1994). "A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family". Proc. Natl. Acad. Sci. U.S.A. 91 (3): 1168–72. Bibcode:1994PNAS...91.1168V. doi:10.1073/pnas.91.3.1168. PMC 521475. PMID 8302848.
  • Salaün C, Gyan E, Rodrigues P, Heard JM (2002). "Pit2 assemblies at the cell surface are modulated by extracellular inorganic phosphate concentration". J. Virol. 76 (9): 4304–11. doi:10.1128/JVI.76.9.4304-4311.2002. PMC 155110. PMID 11932396.
  • Bottger P, Pedersen L (2003). "Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function". J. Biol. Chem. 277 (45): 42741–7. doi:10.1074/jbc.M207096200. PMID 12205090.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Bøttger P, Pedersen L (2004). "The central half of Pit2 is not required for its function as a retroviral receptor". J. Virol. 78 (17): 9564–7. doi:10.1128/JVI.78.17.9564-9567.2004. PMC 506934. PMID 15308749.
  • Bøttger P, Pedersen L (2005). "Evolutionary and experimental analyses of inorganic phosphate transporter PiT family reveals two related signature sequences harboring highly conserved aspartic acids critical for sodium-dependent phosphate transport function of human PiT2". FEBS J. 272 (12): 3060–74. doi:10.1111/j.1742-4658.2005.04720.x. PMID 15955065. S2CID 25673076.
  • Ravera S, Virkki LV, Murer H, Forster IC (2007). "Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements" (PDF). Am. J. Physiol., Cell Physiol. 293 (2): C606–20. doi:10.1152/ajpcell.00064.2007. PMID 17494632. Archived from the original (PDF) on 2021-09-21. Retrieved 2019-12-10.
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By group
SLC1–10
(1):
(2):
(3):
(4):
(5):
(6):
(7):
(8):
  • Na+/Ca2+ exchanger
(9):
(10):
SLC11–20
(11):
(12):
(13):
(14):
(15):
(16):
(17):
(18):
(19):
(20):
  • type III Na+-phosphate cotransporter
SLC21–30
(21):
(22):
(23):
  • Na+-dependent ascorbic acid transporter
(24):
  • Na+/(Ca2+-K+) exchanger
(25):
(26):
(27):
(28):
(29):
(30):
SLC31–40
(31):
(32):
(33):
(34):
(35):
(36):
(37):
(38):
(39):
(40):
  • basolateral iron transporter
SLC41–48
(41):
(42):
(43):
  • Na+-independent, system-L like amino-acid transporter
(44):
(45):
(46):
(47):
(48):
SLCO1–4
Symporter, Cotransporter
  • Na+/K+,Cl
  • Na+/Pi3
  • Na+/Cl
  • Na+/glucose
  • Na+/I
  • Cl/K+
Antiporter (exchanger)
  • Na+/H+
  • Na+/Ca2+
    • Na+/(Ca2+-K+) - Cl/HCO
      3
      (Band 3)
  • Cl-formate
  • Cl-oxalate
see also solute carrier disorders


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