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Protein

Sodium-dependent phosphate transporter 2

Gene

SLC20A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Sodium-phosphate symporter which seems to play a fundamental housekeeping role 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. In vitro, sodium-dependent phosphate uptake is not siginificantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants.5 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHost cell receptor for virus entry, Receptor
Biological processHost-virus interaction, Ion transport, Phosphate transport, Sodium transport, Symport, Transport
LigandSodium

Enzyme and pathway databases

ReactomeiR-HSA-427652 Sodium-coupled phosphate cotransporters
R-HSA-5619111 Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)

Protein family/group databases

TCDBi2.A.20.2.3 the inorganic phosphate transporter (pit) family

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium-dependent phosphate transporter 2
Alternative name(s):
Gibbon ape leukemia virus receptor 2
Short name:
GLVR-2
Phosphate transporter 2
Short name:
PiT-2
Short name:
Pit2
Short name:
hPit2
Solute carrier family 20 member 2
Gene namesi
Name:SLC20A2
Synonyms:GLVR2, PIT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000168575.9
HGNCiHGNC:10947 SLC20A2
MIMi158378 gene
neXtProtiNX_Q08357

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 5ExtracellularSequence analysis5
Transmembranei6 – 26HelicalSequence analysisAdd BLAST21
Topological domaini27 – 46CytoplasmicSequence analysisAdd BLAST20
Transmembranei47 – 67HelicalSequence analysisAdd BLAST21
Topological domaini68 – 86ExtracellularSequence analysisAdd BLAST19
Transmembranei87 – 107HelicalSequence analysisAdd BLAST21
Topological domaini108 – 109CytoplasmicSequence analysis2
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Topological domaini131 – 142ExtracellularSequence analysisAdd BLAST12
Transmembranei143 – 163HelicalSequence analysisAdd BLAST21
Topological domaini164 – 190CytoplasmicSequence analysisAdd BLAST27
Transmembranei191 – 211HelicalSequence analysisAdd BLAST21
Topological domaini212 – 213ExtracellularSequence analysis2
Transmembranei214 – 234HelicalSequence analysisAdd BLAST21
Topological domaini235 – 482CytoplasmicSequence analysisAdd BLAST248
Transmembranei483 – 503HelicalSequence analysisAdd BLAST21
Topological domaini504 – 530ExtracellularSequence analysisAdd BLAST27
Transmembranei531 – 551HelicalSequence analysisAdd BLAST21
Topological domaini552 – 571CytoplasmicSequence analysisAdd BLAST20
Transmembranei572 – 586HelicalSequence analysisAdd BLAST15
Topological domaini587 – 593ExtracellularSequence analysis7
Transmembranei594 – 609HelicalSequence analysisAdd BLAST16
Topological domaini610 – 621CytoplasmicSequence analysisAdd BLAST12
Transmembranei622 – 642HelicalSequence analysisAdd BLAST21
Topological domaini643 – 652ExtracellularSequence analysis10

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Basal ganglia calcification, idiopathic, 1 (IBGC1)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.
See also OMIM:213600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07225511I → L in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs201836672Ensembl.1
Natural variantiVAR_07225628D → N in IBGC1; Impairs phosphate transport; no effect on retroviral receptor function. 3 Publications1
Natural variantiVAR_06754542Missing in IBGC1; substantially impaired phosphate transport. 1 Publication1
Natural variantiVAR_07225751A → V in IBGC1. 1 Publication1
Natural variantiVAR_07225862L → P in IBGC1. 1 Publication1
Natural variantiVAR_07225971R → H in IBGC1. 1 Publication1
Natural variantiVAR_072260115T → M in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs775911275Ensembl.1
Natural variantiVAR_075396184P → L in IBGC1; unknown pathological significance. 1 Publication1
Natural variantiVAR_075397194N → S in IBGC1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748252183Ensembl.1
Natural variantiVAR_072261382R → Q in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs200010919Ensembl.1
Natural variantiVAR_072262434S → W in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs1357615935Ensembl.1
Natural variantiVAR_067546498G → R in IBGC1; substantially impaired phosphate transport. 1 Publication1
Natural variantiVAR_072263502H → Q in IBGC1. 1 Publication1
Natural variantiVAR_072264568P → L in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs763252801Ensembl.1
Natural variantiVAR_075398571G → S in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs1388992742Ensembl.1
Natural variantiVAR_067547575E → K in IBGC1; substantially impaired phosphate transport. 1 PublicationCorresponds to variant dbSNP:rs387906653EnsemblClinVar.1
Natural variantiVAR_067548595T → M in IBGC1; substantially impaired phosphate transport. 2 PublicationsCorresponds to variant dbSNP:rs387906654EnsemblClinVar.1
Natural variantiVAR_067549601S → L in IBGC1; substantially impaired phosphate transport. 2 PublicationsCorresponds to variant dbSNP:rs387906652EnsemblClinVar.1
Natural variantiVAR_067550601S → W in IBGC1; substantially impaired phosphate transport. 1 PublicationCorresponds to variant dbSNP:rs387906652EnsemblClinVar.1
Natural variantiVAR_072265637S → R in IBGC1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi55E → D or K: Abolishes sodium-dependent phosphate transport; no effect on retroviral receptor function. 2 Publications1
Mutagenesisi55E → Q: Abolishes phosphate but not sodium uptake; when associated with Q-91 and Q-575. 2 Publications1
Mutagenesisi81N → V: Abolishes N-glycosylation. 1 Publication1
Mutagenesisi91E → Q: Abolishes phosphate but not sodium uptake; when associated with Q-55 and Q-575. 1 Publication1
Mutagenesisi506D → N: Impairs phosphate transport; no effect on retroviral receptor function. 1 Publication1
Mutagenesisi575E → D or K: Abolishes sodium-dependent phosphate transport; no effect on retroviral receptor function. 2 Publications1
Mutagenesisi575E → Q: Abolishes phosphate but not sodium uptake; when associated with Q-55 and Q-91. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6575
GeneReviewsiSLC20A2
MalaCardsiSLC20A2
MIMi213600 phenotype
OpenTargetsiENSG00000168575
Orphaneti1980 Bilateral striopallidodentate calcinosis
PharmGKBiPA35834

Polymorphism and mutation databases

BioMutaiSLC20A2
DMDMi74735615

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003412681 – 652Sodium-dependent phosphate transporter 2Add BLAST652

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi81N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei253PhosphoserineBy similarity1
Modified residuei256PhosphoserineCombined sources1
Modified residuei259PhosphoserineCombined sources1
Modified residuei268PhosphoserineCombined sources1
Modified residuei316PhosphoserineCombined sources1
Modified residuei385PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ08357
MaxQBiQ08357
PaxDbiQ08357
PeptideAtlasiQ08357
PRIDEiQ08357
ProteomicsDBi58600

PTM databases

iPTMnetiQ08357
PhosphoSitePlusiQ08357

Expressioni

Tissue specificityi

Ubiquitously expressed.

Inductioni

Increased by phosphate depletion in osteosarcoma cell lines.1 Publication

Gene expression databases

BgeeiENSG00000168575 Expressed in 224 organ(s), highest expression level in amniotic fluid
CleanExiHS_SLC20A2
ExpressionAtlasiQ08357 baseline and differential
GenevisibleiQ08357 HS

Organism-specific databases

HPAiHPA026540

Interactioni

Subunit structurei

Homodimer.2 Publications

Protein-protein interaction databases

BioGridi112463, 15 interactors
IntActiQ08357, 4 interactors
STRINGi9606.ENSP00000340465

Structurei

3D structure databases

ProteinModelPortaliQ08357
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2493 Eukaryota
COG0306 LUCA
GeneTreeiENSGT00390000014879
HOGENOMiHOG000231892
HOVERGENiHBG053358
InParanoidiQ08357
KOiK14640
OMAiWMRRKIT
OrthoDBiEOG091G07J5
PhylomeDBiQ08357
TreeFamiTF314426

Family and domain databases

InterProiView protein in InterPro
IPR001204 Phos_transporter
PANTHERiPTHR11101 PTHR11101, 1 hit
PfamiView protein in Pfam
PF01384 PHO4, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q08357-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAMDEYLWMV ILGFIIAFIL AFSVGANDVA NSFGTAVGSG VVTLRQACIL
60 70 80 90 100
ASIFETTGSV LLGAKVGETI RKGIIDVNLY NETVETLMAG EVSAMVGSAV
110 120 130 140 150
WQLIASFLRL PISGTHCIVG STIGFSLVAI GTKGVQWMEL VKIVASWFIS
160 170 180 190 200
PLLSGFMSGL LFVLIRIFIL KKEDPVPNGL RALPVFYAAT IAINVFSIMY
210 220 230 240 250
TGAPVLGLVL PMWAIALISF GVALLFAFFV WLFVCPWMRR KITGKLQKEG
260 270 280 290 300
ALSRVSDESL SKVQEAESPV FKELPGAKAN DDSTIPLTGA AGETLGTSEG
310 320 330 340 350
TSAGSHPRAA YGRALSMTHG SVKSPISNGT FGFDGHTRSD GHVYHTVHKD
360 370 380 390 400
SGLYKDLLHK IHIDRGPEEK PAQESNYRLL RRNNSYTCYT AAICGLPVHA
410 420 430 440 450
TFRAADSSAP EDSEKLVGDT VSYSKKRLRY DSYSSYCNAV AEAEIEAEEG
460 470 480 490 500
GVEMKLASEL ADPDQPREDP AEEEKEEKDA PEVHLLFHFL QVLTACFGSF
510 520 530 540 550
AHGGNDVSNA IGPLVALWLI YKQGGVTQEA ATPVWLLFYG GVGICTGLWV
560 570 580 590 600
WGRRVIQTMG KDLTPITPSS GFTIELASAF TVVIASNIGL PVSTTHCKVG
610 620 630 640 650
SVVAVGWIRS RKAVDWRLFR NIFVAWFVTV PVAGLFSAAV MALLMYGILP

YV
Length:652
Mass (Da):70,392
Last modified:November 1, 1996 - v1
Checksum:iA0A870C7927DE39C
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RGG8E5RGG8_HUMAN
Sodium-dependent phosphate transpor...
SLC20A2
78Annotation score:
E5RGJ6E5RGJ6_HUMAN
Sodium-dependent phosphate transpor...
SLC20A2
70Annotation score:
E5RGM8E5RGM8_HUMAN
Sodium-dependent phosphate transpor...
SLC20A2
105Annotation score:
E5RIX1E5RIX1_HUMAN
Sodium-dependent phosphate transpor...
SLC20A2
47Annotation score:
E5RJW9E5RJW9_HUMAN
Sodium-dependent phosphate transpor...
SLC20A2
28Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07225511I → L in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs201836672Ensembl.1
Natural variantiVAR_07225628D → N in IBGC1; Impairs phosphate transport; no effect on retroviral receptor function. 3 Publications1
Natural variantiVAR_06754542Missing in IBGC1; substantially impaired phosphate transport. 1 Publication1
Natural variantiVAR_07225751A → V in IBGC1. 1 Publication1
Natural variantiVAR_07225862L → P in IBGC1. 1 Publication1
Natural variantiVAR_07225971R → H in IBGC1. 1 Publication1
Natural variantiVAR_072260115T → M in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs775911275Ensembl.1
Natural variantiVAR_075396184P → L in IBGC1; unknown pathological significance. 1 Publication1
Natural variantiVAR_075397194N → S in IBGC1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748252183Ensembl.1
Natural variantiVAR_072261382R → Q in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs200010919Ensembl.1
Natural variantiVAR_072262434S → W in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs1357615935Ensembl.1
Natural variantiVAR_067546498G → R in IBGC1; substantially impaired phosphate transport. 1 Publication1
Natural variantiVAR_072263502H → Q in IBGC1. 1 Publication1
Natural variantiVAR_072264568P → L in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs763252801Ensembl.1
Natural variantiVAR_075398571G → S in IBGC1. 1 PublicationCorresponds to variant dbSNP:rs1388992742Ensembl.1
Natural variantiVAR_067547575E → K in IBGC1; substantially impaired phosphate transport. 1 PublicationCorresponds to variant dbSNP:rs387906653EnsemblClinVar.1
Natural variantiVAR_067548595T → M in IBGC1; substantially impaired phosphate transport. 2 PublicationsCorresponds to variant dbSNP:rs387906654EnsemblClinVar.1
Natural variantiVAR_067549601S → L in IBGC1; substantially impaired phosphate transport. 2 PublicationsCorresponds to variant dbSNP:rs387906652EnsemblClinVar.1
Natural variantiVAR_067550601S → W in IBGC1; substantially impaired phosphate transport. 1 PublicationCorresponds to variant dbSNP:rs387906652EnsemblClinVar.1
Natural variantiVAR_072265637S → R in IBGC1. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L20852 mRNA Translation: AAA18018.1
AK291202 mRNA Translation: BAF83891.1
BC028600 mRNA Translation: AAH28600.1
CCDSiCCDS6132.1
PIRiA37000
RefSeqiNP_001244109.1, NM_001257180.1
NP_001244110.1, NM_001257181.1
NP_006740.1, NM_006749.4
XP_005273670.1, XM_005273613.3
XP_016869237.1, XM_017013748.1
UniGeneiHs.653173
Hs.654763

Genome annotation databases

EnsembliENST00000342228; ENSP00000340465; ENSG00000168575
ENST00000520179; ENSP00000429712; ENSG00000168575
ENST00000520262; ENSP00000429754; ENSG00000168575
GeneIDi6575
KEGGihsa:6575
UCSCiuc003xpe.5 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L20852 mRNA Translation: AAA18018.1
AK291202 mRNA Translation: BAF83891.1
BC028600 mRNA Translation: AAH28600.1
CCDSiCCDS6132.1
PIRiA37000
RefSeqiNP_001244109.1, NM_001257180.1
NP_001244110.1, NM_001257181.1
NP_006740.1, NM_006749.4
XP_005273670.1, XM_005273613.3
XP_016869237.1, XM_017013748.1
UniGeneiHs.653173
Hs.654763

3D structure databases

ProteinModelPortaliQ08357
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112463, 15 interactors
IntActiQ08357, 4 interactors
STRINGi9606.ENSP00000340465

Protein family/group databases

TCDBi2.A.20.2.3 the inorganic phosphate transporter (pit) family

PTM databases

iPTMnetiQ08357
PhosphoSitePlusiQ08357

Polymorphism and mutation databases

BioMutaiSLC20A2
DMDMi74735615

Proteomic databases

EPDiQ08357
MaxQBiQ08357
PaxDbiQ08357
PeptideAtlasiQ08357
PRIDEiQ08357
ProteomicsDBi58600

Protocols and materials databases

DNASUi6575
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342228; ENSP00000340465; ENSG00000168575
ENST00000520179; ENSP00000429712; ENSG00000168575
ENST00000520262; ENSP00000429754; ENSG00000168575
GeneIDi6575
KEGGihsa:6575
UCSCiuc003xpe.5 human

Organism-specific databases

CTDi6575
DisGeNETi6575
EuPathDBiHostDB:ENSG00000168575.9
GeneCardsiSLC20A2
GeneReviewsiSLC20A2
HGNCiHGNC:10947 SLC20A2
HPAiHPA026540
MalaCardsiSLC20A2
MIMi158378 gene
213600 phenotype
neXtProtiNX_Q08357
OpenTargetsiENSG00000168575
Orphaneti1980 Bilateral striopallidodentate calcinosis
PharmGKBiPA35834
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2493 Eukaryota
COG0306 LUCA
GeneTreeiENSGT00390000014879
HOGENOMiHOG000231892
HOVERGENiHBG053358
InParanoidiQ08357
KOiK14640
OMAiWMRRKIT
OrthoDBiEOG091G07J5
PhylomeDBiQ08357
TreeFamiTF314426

Enzyme and pathway databases

ReactomeiR-HSA-427652 Sodium-coupled phosphate cotransporters
R-HSA-5619111 Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)

Miscellaneous databases

ChiTaRSiSLC20A2 human
GeneWikiiSLC20A2
GenomeRNAii6575
PROiPR:Q08357
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168575 Expressed in 224 organ(s), highest expression level in amniotic fluid
CleanExiHS_SLC20A2
ExpressionAtlasiQ08357 baseline and differential
GenevisibleiQ08357 HS

Family and domain databases

InterProiView protein in InterPro
IPR001204 Phos_transporter
PANTHERiPTHR11101 PTHR11101, 1 hit
PfamiView protein in Pfam
PF01384 PHO4, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiS20A2_HUMAN
AccessioniPrimary (citable) accession number: Q08357
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: November 1, 1996
Last modified: October 10, 2018
This is version 146 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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