SLC20A2: Difference between revisions

SLC20A2
Identifiers
Aliases	SLC20A2, GLVR-2, GLVR2, IBGC1, IBGC3, MLVAR, PIT-2, PIT2, RAM1, Ram-1, solute carrier family 20 member 2, IBGC2
External IDs	OMIM: 158378; MGI: 97851; HomoloGene: 68531; GeneCards: SLC20A2; OMA:SLC20A2 - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	42,541,926 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	23,059,628 bp
RNA expression pattern
	Top expressed in
	left lobe of thyroid gland; ; right lobe of thyroid gland; ; popliteal artery; ; muscle of thigh; ; tibial arteries; ; right auricle; ; vena cava; ; corpus callosum; ; olfactory zone of nasal mucosa; ; C1 segment;
	Top expressed in
	molar; ; interventricular septum; ; extraocular muscle; ; masseter muscle; ; retinal pigment epithelium; ; lens; ; iris; ; myocardium of ventricle; ; muscle of thigh; ; digastric muscle;
	More reference expression data
	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
	6575
	20516
	ENSG00000168575
	ENSMUSG00000037656
	Q08357
	Q80UP8
	NM_001257180; NM_001257181; NM_006749
	NM_011394
	NP_001244109; NP_001244110; NP_006740
	NP_035524
	Wikidata
View/Edit Human	View/Edit Mouse

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Latest revision as of 04:54, 12 November 2023

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000168575 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037656 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: SLC20A2 solute carrier family 20 (phosphate transporter), member 2".
^ 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.

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.

This membrane protein–related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000168575 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid7745689-5] 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.

[pmid16790504-6] 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.

[entrez-7] "Entrez Gene: SLC20A2 solute carrier family 20 (phosphate transporter), member 2".

[pmid22327515-8] 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.

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@@ Line 1: / Line 1: @@
+{{Short description|Protein-coding gene in the species Homo sapiens}}
-{{PBB|geneid=6575}}
+{{Infobox_gene}}
-'''Solute carrier family 20 (phosphate transporter), member 2''', also known as '''SLC20A2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC20A2 solute carrier family 20 (phosphate transporter), member 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6575| accessdate = }}</ref>
+'''Sodium-dependent phosphate transporter 2''' is a [[protein]] that in humans is encoded by the ''SLC20A2'' [[gene]].<ref name="pmid7745689">{{cite journal | vauthors = Kozak SL, Siess DC, Kavanaugh MP, Miller AD, Kabat D | title = The envelope glycoprotein of an amphotropic murine retrovirus binds specifically to the cellular receptor/phosphate transporter of susceptible species | journal = J Virol | volume = 69 | issue = 6 | pages = 3433–40 |date=Jun 1995 | pmid = 7745689 | pmc = 189055 | doi =  10.1128/JVI.69.6.3433-3440.1995}}</ref><ref name="pmid16790504">{{cite journal | vauthors = Bottger P, Hede SE, Grunnet M, Hoyer B, Klaerke DA, Pedersen L | title = Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2 | journal = Am J Physiol Cell Physiol | volume = 291 | issue = 6 | pages = C1377–87 |date=Nov 2006 | pmid = 16790504 | doi = 10.1152/ajpcell.00015.2006 | s2cid = 6459667 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC20A2 solute carrier family 20 (phosphate transporter), member 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6575}}</ref>
+==Genomics==
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
-{{PBB_Summary
+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.
-| section_title =
-| summary_text =
+== 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.<ref name="pmid22327515">{{cite journal | vauthors = 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 | title = Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis | journal = Nat Genet | volume = 44| issue = 3| pages = 254–6|date=February 2012 | pmid = 22327515 | doi = 10.1038/ng.1077 | s2cid = 2515200 }}</ref>
 ==See also==
@@ Line 16: / Line 23: @@
 ==Further reading==
 {{refbegin | 2}}
+*{{cite journal  | vauthors=Garcia JV, Jones C, Miller AD |title=Localization of the amphotropic murine leukemia virus receptor gene to the pericentromeric region of human chromosome 8. |journal=J. Virol. |volume=65 |issue= 11 |pages= 6316–9 |year= 1991 |pmid= 1656098 |doi=  10.1128/JVI.65.11.6316-6319.1991| pmc=250343  }}
-{{PBB_Further_reading
+*{{cite journal   |vauthors=van Zeijl M, Johann SV, Closs E, etal |title=A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 3 |pages= 1168–72 |year= 1994 |pmid= 8302848 |doi=10.1073/pnas.91.3.1168  | pmc=521475  |bibcode=1994PNAS...91.1168V |doi-access=free }}
-| citations =
-*{{cite journal  | author=Garcia JV, Jones C, Miller AD |title=Localization of the amphotropic murine leukemia virus receptor gene to the pericentromeric region of human chromosome 8. |journal=J. Virol. |volume=65 |issue= 11 |pages= 6316–9 |year= 1991 |pmid= 1656098 |doi=  }}
+*{{cite journal  | vauthors=Salaün C, Gyan E, Rodrigues P, Heard JM |title=Pit2 assemblies at the cell surface are modulated by extracellular inorganic phosphate concentration. |journal=J. Virol. |volume=76 |issue= 9 |pages= 4304–11 |year= 2002 |pmid= 11932396 |doi=10.1128/JVI.76.9.4304-4311.2002  | pmc=155110  }}
-*{{cite journal  | author=Kozak SL, Siess DC, Kavanaugh MP, ''et al.'' |title=The envelope glycoprotein of an amphotropic murine retrovirus binds specifically to the cellular receptor/phosphate transporter of susceptible species. |journal=J. Virol. |volume=69 |issue= 6 |pages= 3433–40 |year= 1995 |pmid= 7745689 |doi=  }}
+*{{cite journal  | vauthors=Bottger P, Pedersen L |title=Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function. |journal=J. Biol. Chem. |volume=277 |issue= 45 |pages= 42741–7 |year= 2003 |pmid= 12205090 |doi= 10.1074/jbc.M207096200 |doi-access= free }}
-*{{cite journal  | author=van Zeijl M, Johann SV, Closs E, ''et al.'' |title=A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 3 |pages= 1168–72 |year= 1994 |pmid= 8302848 |doi=  }}
+*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
-*{{cite journal  | author=Salaün C, Gyan E, Rodrigues P, Heard JM |title=Pit2 assemblies at the cell surface are modulated by extracellular inorganic phosphate concentration. |journal=J. Virol. |volume=76 |issue= 9 |pages= 4304–11 |year= 2002 |pmid= 11932396 |doi=  }}
+*{{cite journal  | vauthors=Bøttger P, Pedersen L |title=The central half of Pit2 is not required for its function as a retroviral receptor. |journal=J. Virol. |volume=78 |issue= 17 |pages= 9564–7 |year= 2004 |pmid= 15308749 |doi= 10.1128/JVI.78.17.9564-9567.2004  | pmc=506934 }}
-*{{cite journal  | author=Bottger P, Pedersen L |title=Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function. |journal=J. Biol. Chem. |volume=277 |issue= 45 |pages= 42741–7 |year= 2003 |pmid= 12205090 |doi= 10.1074/jbc.M207096200 }}
+*{{cite journal  | vauthors=Bøttger P, Pedersen L |title=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. |journal=FEBS J. |volume=272 |issue= 12 |pages= 3060–74 |year= 2005 |pmid= 15955065 |doi= 10.1111/j.1742-4658.2005.04720.x |s2cid=25673076 |doi-access=free }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal |vauthors= Ravera S, Virkki LV, Murer H, Forster IC |title= Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements. |journal= Am. J. Physiol., Cell Physiol. |volume= 293 |issue= 2 |pages= C606–20 |year= 2007 |pmid= 17494632 |doi= 10.1152/ajpcell.00064.2007 |url= https://www.zora.uzh.ch/id/eprint/2870/2/Ravera_2007V.pdf |access-date= 2019-12-10 |archive-date= 2021-09-21 |archive-url= https://web.archive.org/web/20210921150038/https://www.zora.uzh.ch/id/eprint/2870/2/Ravera_2007V.pdf |url-status= dead }}
-*{{cite journal  | author=Bøttger P, Pedersen L |title=The central half of Pit2 is not required for its function as a retroviral receptor. |journal=J. Virol. |volume=78 |issue= 17 |pages= 9564–7 |year= 2004 |pmid= 15308749 |doi= 10.1128/JVI.78.17.9564-9567.2004 }}
-*{{cite journal  | author=Bøttger P, Pedersen L |title=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. |journal=FEBS J. |volume=272 |issue= 12 |pages= 3060–74 |year= 2005 |pmid= 15955065 |doi= 10.1111/j.1742-4658.2005.04720.x }}
-*{{cite journal  | author=Bøttger P, Hede SE, Grunnet M, ''et al.'' |title=Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2. |journal=Am. J. Physiol., Cell Physiol. |volume=291 |issue= 6 |pages= C1377–87 |year= 2007 |pmid= 16790504 |doi= 10.1152/ajpcell.00015.2006 }}
-*{{cite journal  | author=Ravera S, Virkki LV, Murer H, Forster IC |title=Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements. |journal=Am. J. Physiol., Cell Physiol. |volume=293 |issue= 2 |pages= C606–20 |year= 2007 |pmid= 17494632 |doi= 10.1152/ajpcell.00064.2007 }}
-}}
 {{refend}}
-{{membrane-protein-stub}}
 {{Membrane transport proteins}}
 [[Category:Solute carrier family]]
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