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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC20A2 Gene

protein-coding   GIFtS: 62
GCID: GC08M042291

solute carrier family 20 (phosphate transporter), member...


(Previous symbols: MLVAR, GLVR2)
 Explore 12 diseases affiliated with
SLC20A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC20A2    

Aliases
for SLC20A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 20 (Phosphate Transporter), Member 21 2     PIT-22
GLVR21 2 3 5     RAM12
MLVAR1 2 5     Murine Leukemia Virus, Amphotropic, Receptor For2
PiT-21 3     Sodium-Dependent Phosphate Transporter 22
Gibbon Ape Leukemia Virus Receptor 22 3     Pit23
GLVR-22 3     HPit21
PIT22 3     Phosphate Transporter 23
Glvr-21     Solute Carrier Family 20 Member 23
IBGC32     

External Ids:    HGNC: 109471   Entrez Gene: 65752   Ensembl: ENSG000001685757   OMIM: 1583785   UniProtKB: Q083573   

Export aliases for SLC20A2 gene to outside databases

Previous GC identifers: GC08P041568 GC08M042299 GC08M042014 GC08M042393 GC08M040797


Summaries
for SLC20A2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SLC20A2:
This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3
sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular
phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor.
Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced
transcript variants encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Mar 2012)

UniProtKB/Swiss-Prot: S20A2_HUMAN, Q08357
Function: 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

Gene Wiki entry for SLC20A2


Genomic Views
for SLC20A2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC20A2 gene promoter:
         Elk-1   AP-1   POU3F1   MEF-2   FOXD3   Cdc5   C/EBPalpha   Evi-1   MEF-2A   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SLC20A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC20A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p11.21   Ensembl cytogenetic band:  8p11.21   HGNC cytogenetic band: 8p11.21

SLC20A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC20A2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M042291:  view genomic region     (about GC identifiers)

Start:
 42,273,993 bp from pter      End:
 42,397,069 bp from pter
Size:
 123,077 bases      Orientation:
 minus strand

Proteins
for SLC20A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: S20A2_HUMAN, Q08357 (See protein sequence)
Recommended Name: Sodium-dependent phosphate transporter 2  
Size: 652 amino acids; 70392 Da
Subunit: Homodimer
Subcellular location: Cell membrane; Multi-pass membrane protein

Explore the universe of human proteins at neXtProt for SLC20A2: NX_Q08357

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q08357

    • SLC20A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001244109.1  NP_001244110.1  NP_006740.1  

    ENSEMBL proteins: 
     ENSP00000340465   ENSP00000429754   ENSP00000429712   ENSP00000429989   ENSP00000430166  
     ENSP00000427756   ENSP00000429299   ENSP00000430462  
    Reactome Protein details: Q08357
    Human Recombinant Protein Products: 
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    Novus Biologicals SLC20A2 Proteins
    Novus Biologicals SLC20A2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC20A2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8302848
    GO:0016020membrane TAS8302848


    SLC20A2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SLC20A2

    Protein Domains /
    Families
    for SLC20A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC20A2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001204 Phos_transporter

    Graphical View of Domain Structure for InterPro Entry Q08357

    ProtoNet protein and cluster: Q08357

    1 Blocks protein family: IPB001204 Phosphate transporter

    UniProtKB/Swiss-Prot: S20A2_HUMAN, Q08357
    Similarity: Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family


    Function
    for SLC20A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: S20A2_HUMAN, Q08357
    Function: 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
    Induction: Increased by phosphate depletion in osteosarcoma cell lines

         Genatlas biochemistry entry for SLC20A2:
    solute carrier family 20,member 2 (phosphate transport),Moloney murine leukemia virus receptor

    miRNA
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    hsa-miR-15a hsa-miR-199a-3p hsa-miR-503 hsa-let-7a-2* hsa-miR-624* hsa-miR-424 hsa-miR-9 hsa-miR-1244
    SwitchGear 3'UTR luciferase reporter plasmid: SLC20A2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for SLC20A2

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS8302848
    GO:0005315inorganic phosphate transmembrane transporter activity IEA--
    GO:0005436sodium:phosphate symporter activity TAS8302848


    SLC20A2 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for SLC20A2:
     Decreased viability of wild-ty  G0/1 arrest  Increased G1 DNA content 


    Pathways & Interactions
    for SLC20A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transmembrane transport of small molecules0.50
    2Type II Na+/Pi cotransporters
    		Sodium-coupled phosphate cotransporters0.60
    3Amino acid and oligopeptide SLC transporters
    		Transport of inorganic cations/anions and amino acids/oligopeptides0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for SLC20A2
        Sodium-coupled phosphate cotransporters
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of inorganic cations/anions and amino acids/oligopeptides



    SLC20A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC20A2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SLC20A2 (ENSP000003404654) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    AP3D1ENSP000003440554STRING: ENSP00000344055
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8302848
    GO:0006811ion transport TAS--
    GO:0019048virus-host interaction IEA--
    GO:0044419interspecies interaction between organisms ----
    GO:0055085transmembrane transport TAS--


    SLC20A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC20A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC20A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC20A2

    2 HMDB Compounds for SLC20A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    SodiumSodium (see all 2)7440-23-5--
    4 Novoseek chemical compound relationships for SLC20A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    foscarnet 67.7 4 15601852 (1), 20432454 (1)
    alanine 4.41 2 15184021 (1), 16734382 (1)
    arginine 4.37 1 11602698 (1)
    serine 0 2 15184021 (1), 9573264 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC20A2 / S20A2 

    Transcripts
    for SLC20A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SLC20A2 gene (3 alternative transcripts): 
    NM_001257180.1  NM_001257181.1  NM_006749.4  

    Unigene Cluster for SLC20A2:

    Solute carrier family 20 (phosphate transporter), member 2
    Hs.653173  [show with all ESTs]
    Unigene Representative Sequence: NM_001257180
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342228(uc011lcu.2 uc010lxl.3 uc010lxm.3 uc003xpe.3)
    ENST00000520262 ENST00000520179 ENST00000518660 ENST00000522401 ENST00000524211
    ENST00000518717 ENST00000517366 ENST00000522707 ENST00000518384 ENST00000524237
    ENST00000523340 ENST00000519463 ENST00000521455

    miRNA
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    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC20A2 (see all 42):
    hsa-miR-15a hsa-miR-199a-3p hsa-miR-503 hsa-let-7a-2* hsa-miR-624* hsa-miR-424 hsa-miR-9 hsa-miR-1244
    SwitchGear 3'UTR luciferase reporter plasmid: SLC20A2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC20A2 (see all 7)
    OriGene shRNA RFP: SLC20A2
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK291202.1 AK295952.1 AK314774.1 BC028600.2 L20852.1 

    12 DOTS entries:

    DT.445748  DT.115909  DT.95071778  DT.86845750  DT.95146353  DT.120638587  DT.40307187  DT.100819604 
    DT.120638685  DT.75168772  DT.75196991  DT.95146363 

    24/316 AceView cDNA sequences (see all 316):

    BU675717 W85709 AI086423 BM917263 AA452054 BX442594 AI336168 AI419473 
    BC028600 BI859978 AA360828 AA256398 BE465080 BQ024840 AV751519 AI792357 
    AL046778 BP352862 T05770 AI423130 CA312607 AL555863 BX444576 BM467092 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for SLC20A2 (see all 16)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13a · 13b · 13c · 13d ·
    SP1:        -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                             
    SP2:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                             
    SP3:                                                                                                                                                            
    SP4:                          -     -     -     -     -     -                 -     -     -     -     -     -     -                                             
    SP5:                                                                                                                                                            

    ExUns: 13e · 13f ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
    SP1:              -     -                 -                                                         
    SP2:              -     -                 -                                                         
    SP3:                                                                                                
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for SLC20A2

    Expression
    for SLC20A2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC20A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAAGTCCAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC20A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC20A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC20A2

    SOURCE GeneReport for Unigene cluster: Hs.653173

    UniProtKB/Swiss-Prot: S20A2_HUMAN, Q08357
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    Orthologs
    for SLC20A2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for SLC20A2 gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Slc20a21 , 5 solute carrier family 20, member 21, 5 83.38(n)1
    92.41(a)1    		   8 (11.42 cM)5
    205161  NM_011394.31  NP_035524.21 
     224767005 
    chicken
    (Gallus gallus)    		 Aves SLC20A21 solute carrier family 20 (phosphate transporter), member more 75.08(n)
    84.22(a)    		   422493  NM_001031133.1  NP_001026304.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC20A26
    		 --
    		 84(a)
    		 1 ↔ 1
    		 6(58755184-58788600)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1529901 zgc:152990 72(n)
    80(a)    		   558346  NM_001077546.1  NP_001071014.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG76283 phosphate transporter 54(a)     --
    worm
    (Caenorhabditis elegans)    		 Secernentea C48A7.23 phosphate permease 59(a)
    (best of 5)    		   IV(7394285-7396914)   --
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes PHO89(YBR296C)4
    PHO891    		 Na+/Pi cotransporter, active in early growth phase; more4
    Pho89p1    		 46.9(n)1
    38.21(a)1    		   2(798522-796798)4
    8525991, 4  NP_009855.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons PHT2;16
    		 inorganic phosphate transporter 2-1
    		 24(a)
    		 possible ortholog
    		 3(9756191-9758633)
    rice
    (Oryza sativa)    		 Liliopsida Os.95062 Oryza sativa (japonica cultivar-group) cDNA clone0 more 73.97(n)    AK067498.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria pitA6
    pitB6
    		 phosphate transporter
    		 16(a)
    15(a)
    		 possible ortholog
    possible ortholog
    		 Chromosome(3635665-3637164)
    Chromosome(3132894-3134393)


    ENSEMBL Gene Tree for SLC20A2 (if available)
    TreeFam Gene Tree for SLC20A2 (if available) 

    Paralogs
    for SLC20A2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC20A2 gene
    SLC20A12  
    1 SIMAP similar gene for SLC20A2 using alignment to 6 protein entries:     S20A2_HUMAN (see all proteins):
    SLC20A1

    SLC20A2 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC20A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2019 NCBI SNPs in SLC20A2 are shown (see all 2019)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs18036571,2
    		C,F,--40797978(-) GATTTG/TTTCAT 3 -- ut316Minor allele frequency- T:0.35NA WA CSA 128
    rs726432031,2
    		C,F,--40798168(+) CCATCG/AAAATA 3 -- ut311Minor allele frequency- A:0.03NA 120
    rs1147292861,2
    		C,F,--40798436(+) CTGGTC/AATGAG 3 -- ut311Minor allele frequency- A:0.05WA 118
    rs792693371,2
    		F,--40800374(+) AATATC/TAGCAC 3 -- int11Minor allele frequency- T:0.08WA 118
    rs761655161,2
    		--40800535(+) ACAAAC/TTGTCG 3 -- int10--------
    rs285351071,2
    		C,F,--40801925(+) CTCCTG/AAGTAG 3 -- int15Minor allele frequency- A:0.35WA CSA 126
    rs284482941,2
    		--40802348(+) CAGGAC/GAATTG 3 -- int10--------
    rs286364851,2
    		C,--40802559(+) CCCAAC/GTTGAG 3 -- int12Minor allele frequency- G:0.03WA 120
    rs772847001,2
    		C,--40804123(+) TCAGGT/CCTGTT 3 -- int12Minor allele frequency- C:0.16CSA WA 120
    rs132624791,2
    		C,F,H,--40804546(+) AAGAAG/CGGGGA 3 -- int1 trp318Minor allele frequency- C:0.05NA NS EA 1980

    HapMap Linkage Disequilibrium report for SLC20A2 (42273993 - 42397069 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC20A2
         1 CNV: 6616
    Human Gene Mutation Database (HGMD): SLC20A2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC20A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC20A2

    Disorders / Diseases
    for SLC20A2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC20A2 for disorders           About GeneDecksing

    OMIM gene information: 158378    OMIM disorders: --

    UniProtKB/Swiss-Prot: S20A2_HUMAN, Q08357
  • Defects in SLC20A2 are the cause of basal ganglia calcification, idiopathic, type 3 (IBGC3) [MIM:614540]. 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

    12 diseases for SLC20A2:    About MalaCards
    familial idiopathic basal ganglia calcification    basal ganglia calcification    leukemia    ankylosis
    hyperphosphatemia    hypophosphatemia    osteosarcoma    tuberculosis
    immunodeficiency    malaria    basal ganglia calcification, idiopathic    mycobacterium tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for SLC20A2:
    Generalized arterial calcification of infancy     Hypophosphatemia

    3 Novoseek disease relationships for SLC20A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia feline 76.1 4 10684313 (2), 11435563 (1), 11602698 (1)
    leukemia 64.6 16 9573264 (2), 10933951 (1), 9454686 (1), 9853528 (1) (see all 10)
    calcification 11.6 1 15955065 (1)

    Human Genome Epidemiology (HuGE) Navigator: SLC20A2 (2 documents)

    Export disorders for SLC20A2 gene to outside databases

    Publications
    for SLC20A2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC20A2 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with SLC20A2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of transport mechanisms and determinants critical for Na+-dependent Pi symport of the PiT family paralogs human PiT1 and PiT2. (PubMed id 16790504)1, 2, 3, 9 Boettger P....Pedersen L. (2006)
    2. 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. (PubMed id 15955065)1, 2, 9 Boettger P. and Pedersen L. (2005)
    3. A human amphotropic retrovirus receptor is a second member of the gibbon ape leukemia virus receptor family. (PubMed id 8302848)1, 2, 9 van Zeijl M.... O'Hara B. (1994)
    4. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. (PubMed id 22327515)1, 2 Wang C.... Liu J.Y. (2012)
    5. Two highly conserved glutamate residues critical for type III sodium-dependent phosphate transport revealed by uncoupling transport function from retroviral receptor function. (PubMed id 12205090)1, 2 Bottger P. and Pedersen L. (2002)
    6. The envelope glycoprotein of an amphotropic murine retrovirus binds specifically to the cellular receptor/phosphate transporter of susceptible species. (PubMed id 7745689)1, 3 Kozak S.L....Kabat D. (1995)
    7. Identification of envelope determinants of feline leukemia virus subgroup B that permit infection and gene transfer to cells expressing human Pit1 or Pit2. (PubMed id 11435563)2, 9 Sugai J....Overbaugh J. (2001)
    8. The amphotropic murine leukemia virus receptor gene encodes a 71-kilodalton protein that is induced by phosphate depletion. (PubMed id 9151850)2, 9 Chien M.L....Garcia J.V. (1997)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    External Searches for SLC20A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SLC20A2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6575 HGNC: 10947 AceView: SLC20A2 Ensembl:ENSG00000168575 euGenes: HUgn6575
    ECgene: SLC20A2 H-InvDB: SLC20A2

    Other Databases showing SLC20A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC20A2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC20A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC20A2 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for SLC20A2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC20A2 gene:
    Search GeneIP for patents involving SLC20A2

    GeneCards and IP:
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