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SLC20A1 Gene

protein-coding   GIFtS: 63
GCID: GC02P113403

Solute Carrier Family 20 (Phosphate Transporter), Member...


(Previous symbol: GLVR1)
  See SLC20A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 20 (Phosphate Transporter), Member 11 2     PiT-12 3
GLVR11 2 3 5     Glvr-12
Gibbon Ape Leukemia Virus Receptor 11 2 3     Sodium-Dependent Phosphate Transporter 12
Leukemia Virus Receptor 1 Homolog2 3     GLVR-13
Solute Carrier Family 20 Member 12 3     Phosphate Transporter 13
PIT12 3     

External Ids:    HGNC: 109461   Entrez Gene: 65742   Ensembl: ENSG000001441367   OMIM: 1375705   UniProtKB: Q8WUM93   

Export aliases for SLC20A1 gene to outside databases

Previous GC identifers: GC02P110609 GC02P111324 GC02P113310 GC02P113498 GC02P113119 GC02P105859


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC20A1 Gene:
The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid
for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The
encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape
leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia
virus.(provided by RefSeq, Mar 2011)

GeneCards Summary for SLC20A1 Gene:
SLC20A1 (solute carrier family 20 (phosphate transporter), member 1) is a protein-coding gene. Diseases associated with SLC20A1 include leukemia, and aortic valve disease. GO annotations related to this gene include sodium:phosphate symporter activity and signal transducer activity. An important paralog of this gene is SLC20A2.

UniProtKB/Swiss-Prot: S20A1_HUMAN, Q8WUM9
Function: Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport, such as
absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal
transduction, and nucleic acid and lipid synthesis. May play a role in extracellular matrix and cartilage
calcification as well as in vascular calcification. May function as a retroviral receptor as it confers human
cells susceptibility to infection to Gibbon Ape Leukemia Virus (GaLV), Simian sarcoma-associated virus (SSAV) and
Feline leukemia virus subgroup B (FeLV-B) as well as 10A1 murine leukemia virus (10A1 MLV)

Gene Wiki entry for SLC20A1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC20A1 gene promoter:
         E2F-4   E2F-3a   E2F-5   p53   POU3F2 (N-Oct-5b)   E2F-2   E47   E2F   E2F-1   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC20A1 promoter sequence
   Search Chromatin IP Primers for SLC20A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC20A1


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

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q13

SLC20A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC20A1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P113403:  view genomic region     (about GC identifiers)

Start:
113,403,434 bp from pter      End:
113,421,404 bp from pter
Size:
17,971 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S20A1_HUMAN, Q8WUM9 (See protein sequence)
Recommended Name: Sodium-dependent phosphate transporter 1  
Size: 679 amino acids; 73700 Da
Secondary accessions: Q08344 Q6DHX8 Q9UQ82

Explore the universe of human proteins at neXtProt for SLC20A1: NX_Q8WUM9

Explore proteomics data for SLC20A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys389, Lys394
  • Modification sites at PhosphoSitePlus

  • See SLC20A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005406.3  
    ENSEMBL proteins: 
     ENSP00000272542   ENSP00000392050   ENSP00000390021   ENSP00000403763   ENSP00000413393  
    Reactome Protein details: Q8WUM9

    SLC20A1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Sodium-dependent phosphate transporter 1
    SLC20 family of sodium-dependent phosphate transporters

    1 InterPro protein domain:
     IPR001204 Phos_transporter

    Graphical View of Domain Structure for InterPro Entry Q8WUM9

    ProtoNet protein and cluster: Q8WUM9

    1 Blocks protein domain: IPB001204 Phosphate transporter

    UniProtKB/Swiss-Prot: S20A1_HUMAN, Q8WUM9
    Domain: Region A confers human cells susceptibility to infection by Gibbon Ape Leukemia Virus (GaLV) and Feline
    leukemia virus subgroup B (FeLV-B). Substitution of Human SLC20A1 region A by region A of murine SLC20A1 prevents
    viral infection
    Similarity: Belongs to the inorganic phosphate transporter (PiT) (TC 2.A.20) family


    Find genes that share domains with SLC20A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S20A1_HUMAN, Q8WUM9
    Function: Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport, such as
    absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal
    transduction, and nucleic acid and lipid synthesis. May play a role in extracellular matrix and cartilage
    calcification as well as in vascular calcification. May function as a retroviral receptor as it confers human
    cells susceptibility to infection to Gibbon Ape Leukemia Virus (GaLV), Simian sarcoma-associated virus (SSAV) and
    Feline leukemia virus subgroup B (FeLV-B) as well as 10A1 murine leukemia virus (10A1 MLV)
    Biophysicochemical properties: Kinetic parameters: KM=24.1 uM for phosphate; Vmax=1.9 nmol/min/mg enzyme (in the
    presence of 0.05-2 mM phosphate); Note=With an increase in pH, a decrease in phosphate uptake is observed; pH
    dependence: Optimum pH is 6.5 and 7.5;
    Induction: By phosphate deprivation as well as by IL8/interleukin-8 in hypertrophic chondrocytes

         Genatlas biochemistry entry for SLC20A1:
    solute carrier family 20,member 1 (phosphate transport),putatively involved in the regulation of Pi handling in
    bone forming cells

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IMP12761501
    GO:0004872receptor activity TAS8041748
    GO:0005315inorganic phosphate transmembrane transporter activity IEA--
    GO:0005316high affinity inorganic phosphate:sodium symporter activity IEA--
    GO:0005436sodium:phosphate symporter activity TAS8041748
         
    Find genes that share ontologies with SLC20A1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for SLC20A1:
     Decreased viability of wild-ty  Increased S DNA content  Lamellipodia cells 

         12 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Slc20a1):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     normal  skeleton 

    Find genes that share phenotypes with SLC20A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SLC20A1: Slc20a1tm1.2Cmg Slc20a1tm1.2Lbek

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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC20A1 (see all 31):
    hsa-let-7d hsa-miR-539 hsa-miR-513a-5p hsa-miR-200a hsa-let-7a-2* hsa-let-7c hsa-miR-4299 hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidSLC20A1 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for SLC20A1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC20A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S20A1_HUMAN, Q8WUM9: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    chloroplast1
    cytosol1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8041748
    GO:0016020membrane TAS8041748
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with SLC20A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC20A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Sodium-coupled phosphate cotransporters0.00
    2Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with SLC20A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SLC20A1
        Glucose / Energy Metabolism

    1 Reactome Pathway for SLC20A1
        Sodium-coupled phosphate cotransporters


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC20A1
    Interactions:

        Search GeneGlobe Interaction Network for SLC20A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for SLC20A1 (Q8WUM93 ENSP000002725424) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP3D1O146173, ENSP000003440554I2D: score=1 STRING: ENSP00000344055
    GSPT2Q8IYD13, ENSP000003412474I2D: score=1 STRING: ENSP00000341247
    RPL3P390233, ENSP000003460014I2D: score=1 STRING: ENSP00000346001
    LMBR1LQ6UX013I2D: score=5 
    PIGTQ969N23I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006796phosphate-containing compound metabolic process TAS8041748
    GO:0006810transport TAS8041748
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport ----
    GO:0006817phosphate ion transport ----

    Find genes that share ontologies with SLC20A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC20A1 (S20A1)

    2 HMDB Compounds for SLC20A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    SodiumSodium (see all 2)7440-23-5--

    3 Novoseek inferred chemical compound relationships for SLC20A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    foscarnet 78.2 1 16734382 (1)
    calcium 19.4 7 17989650 (1), 17565274 (1), 15569318 (1), 19546357 (1)
    arginine 0 1 11602698 (1)



    Find genes that share compounds with SLC20A1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC20A1 gene: 
    NM_005415.4  

    Unigene Cluster for SLC20A1:

    Solute carrier family 20 (phosphate transporter), member 1
    Hs.187946  [show with all ESTs]
    Unigene Representative Sequence: NM_005415
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272542(uc002tic.1 uc002tib.3) ENST00000423633 ENST00000498224
    ENST00000433924 ENST00000456264 ENST00000413135 ENST00000480984 ENST00000492076
    ENST00000490674
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC20A1
      QuantiFast Probe-based Assays in human, mouse, rat SLC20A1

    Additional mRNA sequence: 

    AK123420.1 AK312738.1 BC019944.1 BC075818.1 BX647555.1 L20859.1 

    15 DOTS entries:

    DT.97780721  DT.95362319  DT.117410  DT.95182976  DT.410647  DT.101957042  DT.100728454  DT.100878559 
    DT.91752393  DT.95182974  DT.95182981  DT.100657856  DT.120990515  DT.86837161  DT.95182975 

    Selected AceView cDNA sequences (see all 347):

    BP344638 AA468602 BE388271 CR610552 BI868928 BU191696 BQ224706 AV726973 
    W94946 BU156557 BE408629 BQ213616 AU105562 CA488546 BU154822 BQ669841 
    BQ671754 BQ447787 BQ933611 CR619726 BQ224397 AW009358 AL039560 BQ950013 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC20A1 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for SLC20A1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC20A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCATTTGTC
    SLC20A1 Expression
    About this image


    SLC20A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Midgut
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
    SLC20A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC20A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.187946

    UniProtKB/Swiss-Prot: S20A1_HUMAN, Q8WUM9
    Tissue specificity: Ubiquitously expressed

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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SLC20A1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc20a11 , 5 solute carrier family 20, member 11, 5 89.63(n)1
    92.87(a)1
      2 (62.79 cM)5
    205151  NM_015747.21  NP_056562.11 
     1291987645 
    chicken
    (Gallus gallus)
    Aves SLC20A11 solute carrier family 20 (phosphate transporter), member more 75.08(n)
    85.64(a)
      426250  XM_003642557.2  XP_003642605.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684962 hypothetical protein MGC68496 79.16(n)    BC059957.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa05g122 Danio rerio cDNA clone MGC66257 IMAGE3820608, complete more 76.92(n)    BC057497.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG76283 phosphate transporter 53(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea C48A7.21 , 3 phosphate permease3
    C48A7.21
    57(a)
    (best of 5)3
    53.57(n)1
    49.21(a)1
      IV(7394285-7396914)3
    1775121  NM_068779.41  NP_501180.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PHO896
    Na+/Pi cotransporter, active in early growth phase...
    29(a)
    1 → many
    II(796798-798522) YBR296C
    wheat
    (Triticum aestivum)
    Liliopsida Ta.40012 Triticum aestivum phosphate transporter 2-1 (PT2-1) more 76.85(n)    AY293827.1 


    ENSEMBL Gene Tree for SLC20A1 (if available)
    TreeFam Gene Tree for SLC20A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC20A1 gene
    SLC20A22  
    1 SIMAP similar gene for SLC20A1 using alignment to 6 protein entries:     S20A1_HUMAN (see all proteins):
    SLC20A2

    Find genes that share paralogs with SLC20A1           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for SLC20A1
    PGOHUM00000262892 PGOHUM00000247980 PGOHUM00000246612


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC20A1 (see all 497)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs340948561,2
    C--105865749(+) CTCTC-/TTTTTT 1 -- int10--------
    rs797209381,2
    C--105865758(+) TTTTT-/CYTTAA 1 -- int10--------
    rs58334531,2
    C--105868834(+) CAGTT-/AACGAT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs113955441,2
    C--105868835(+) AGTTA-/A/GCGATC 1 -- int13NA CSA 6
    rs606826051,2
    C--105872947(+) GTCTTTACTT/
            
    GGGAG
    1 -- int11Minor allele frequency- -:0.50NA 2
    rs1819860251,2
    --112915316(+) GGGCTA/GTACCC 1 -- us2k10--------
    rs1848258091,2
    --112915319(+) CTGTAC/TCCTAC 1 -- us2k10--------
    rs1510503821,2
    --112915493(+) GAATTC/TCTTTG 1 -- us2k10--------
    rs1896213501,2
    --112915522(+) TCCCTA/GCAAAC 1 -- us2k10--------
    rs67370941,2
    C,F,A,H--112915549(+) GGAGAA/GTGCTC 1 -- us2k114Minor allele frequency- G:0.23NA WA CSA EA 559

    HapMap Linkage Disequilibrium report for SLC20A1 (113403434 - 113421404 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC20A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv470480CNV Gain18288195
    nsv458997CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC20A1
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    (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.)
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    OMIM gene information: 137570    OMIM disorders: --

    3 diseases for SLC20A1:    
    About MalaCards
    leukemia    aortic valve disease    isolated growth hormone deficiency


    Find genes that share disorders with SLC20A1           About GenesLikeMe

    5 Novoseek inferred disease relationships for SLC20A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperphosphatemia 78.5 2 16384827 (2)
    leukemia feline 75.7 7 11435563 (2), 9343161 (1), 8411376 (1), 19717569 (1)
    calcification 61.2 20 16527991 (5), 17565274 (3), 19655218 (3), 18179800 (2) (see all 9)
    leukemia 60.1 21 9271190 (2), 10933951 (1), 9454686 (1), 9853528 (1) (see all 14)
    tumors 0 2 12362974 (1), 17565274 (1)

    Genetic Association Database (GAD): SLC20A1
    Human Genome Epidemiology (HuGE) Navigator: SLC20A1 (7 documents)

    Export disorders for SLC20A1 gene to outside databases

    (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)
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    PubMed articles for SLC20A1 gene, integrated from 10 sources (see all 99):
    (articles sorted by number of sources associating them with SLC20A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters. (PubMed id 8041748)1, 2, 3 Kavanaugh M.P....Miller A.D. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    2. Role of interleukin-8 in PiT-1 expression and CXCR1-mediated inorganic phosphate uptake in chondrocytes. (PubMed id 15641067)1, 2, 9 Cecil D.L.... Liu-Bryan R. (Arthritis Rheum. 2005)
    3. GLVR1, a receptor for gibbon ape leukemia virus, is homologous to a phosphate permease of Neurospora crassa and is expressed at high levels in the brain and thymus. (PubMed id 1531369)1, 2, 9 Johann S.V.... O'Hara B. (J. Virol. 1992)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers. (PubMed id 18095154)1, 4 Walker L.C....Spurdle A.B. (Breast Cancer Res. Treat. 2008)
    6. Genetic variations associated with echocardiographic left ventricular traits in hypertensive blacks. (PubMed id 17339538)1, 4 Meyers K.J....Kardia S.L. (Hypertension 2007)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Reassessing the role of region A in Pit1-mediated viral entry. (PubMed id 12097582)1, 2 Farrell K.B.... Eiden M.V. (J. Virol. 2002)
    10. Phosphate regulation of vascular smooth muscle cell calcification. (PubMed id 11009570)1, 2 Jono S.... Giachelli C.M. (Circ. Res. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6574 HGNC: 10946 AceView: SLC20A1 Ensembl:ENSG00000144136 euGenes: HUgn6574
    ECgene: SLC20A1 H-InvDB: SLC20A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC20A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC20A1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC20A1 gene:
    Search GeneIP for patents involving SLC20A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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