SLC20A2

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
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; ; 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; ; mirror; ; iris; ; myocardium of ventricle; ; digastric muscle; ; hair follicle;
	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

Last updated October 26, 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]

Related Research Articles

Primary familial brain calcification (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Through the use of CT scans, calcifications are seen primarily in the basal ganglia and in other areas such as the cerebral cortex.

The sodium/phosphate cotransporter is a member of the phosphate:Na⁺ symporter (PNaS) family within the TOG Superfamily of transport proteins as specified in the Transporter Classification Database (TCDB).

Thiamine transporter 2 (ThTr-2), also known as solute carrier family 19 member 3, is a protein that in humans is encoded by the SLC19A3 gene. SLC19A3 is a thiamine transporter.

Importin subunit alpha-7 is a protein that in humans is encoded by the KPNA6 gene.

G2/mitotic-specific cyclin-B2 is a protein that in humans is encoded by the CCNB2 gene.

Poliovirus receptor-related 2 (PVRL2), also known as nectin-2 and CD112, is a human plasma membrane glycoprotein.

G protein-coupled receptor 1, also known as GPR1, is a protein that in humans is encoded by the GPR1 gene.

Interferon-induced GTP-binding protein Mx1 is a protein that in humans is encoded by the MX1 gene.

Protein kinase C eta type is an enzyme that in humans is encoded by the PRKCH gene.

Poliovirus receptor-related 1 (PVRL1), also known as nectin-1 and CD111 (formerly herpesvirus entry mediator C, HVEC) is a human protein of the immunoglobulin superfamily (IgSF), also considered a member of the nectins. It is a membrane protein with three extracellular immunoglobulin domains, a single transmembrane helix and a cytoplasmic tail. The protein can mediate Ca²⁺-independent cellular adhesion further characterizing it as IgSF cell adhesion molecule (IgSF CAM).

Solute carrier family 22 member 2 is a protein that in humans is encoded by the SLC22A2 gene.

Transcription initiation factor TFIID subunit 10 is a protein that in humans is encoded by the TAF10 gene.

TATA-binding protein-associated factor 2N is a protein that in humans is encoded by the TAF15 gene.

Sodium-dependent phosphate transporter 1 is a protein that in humans is encoded by the SLC20A1 gene.

Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene.

Solute carrier family 26 member 6 is a protein that in humans is encoded by the SLC26A6 gene. It is an anion-exchanger expressed in the apical membrane of the kidney proximal tubule, the apical membranes of the duct cells in the pancreas, and the villi of the duodenum.

Feline leukemia virus subgroup C receptor-related protein 1 is a protein that in humans is encoded by the FLVCR1 gene (SLC49A1).

Solute carrier family 13 member 3 also called sodium-dependent dicarboxylate transporter (NaDC3) is a protein that in humans is encoded by the SLC13A3 gene.

Eukaryotic translation initiation factor 3, subunit M (eIF3m) also known as PCI domain containing 1 (herpesvirus entry mediator) (PCID1), is a protein that in humans is encoded by the EIF3M gene.

Interferon alpha-16, also known as IFN-alpha-16, is a protein that in humans is encoded by theIFNA16 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000168575 - Ensembl, May 2017
1 2 3 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000168575 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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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SLC20A2

Contents

Genomics

Function

Clinical significance

See also

Related Research Articles

References

Further reading