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SLC20A2 Gene

protein-coding   GIFtS: 66
GCID: GC08M042291

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


(Previous symbols: MLVAR, GLVR2)
  See 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 21 2     RAM12
GLVR21 2 3 5     Murine Leukemia Virus, Amphotropic, Receptor For2
MLVAR1 2 5     Sodium-Dependent Phosphate Transporter 22
Gibbon Ape Leukemia Virus Receptor 22 3     PiT-23
GLVR-22 3     Pit23
PIT22 3     hPit23
IBGC12 5     Phosphate Transporter 23
IBGC32     Solute Carrier Family 20 Member 23
PIT-22     

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


(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 SLC20A2 Gene:
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)

GeneCards Summary for SLC20A2 Gene:
SLC20A2 (solute carrier family 20 (phosphate transporter), member 2) is a protein-coding gene. Diseases associated with SLC20A2 include familial idiopathic basal ganglia calcification, and primary familial brain calcification 3. GO annotations related to this gene include sodium:phosphate symporter activity and receptor activity. An important paralog of this gene is SLC20A1.

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 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:
NC_000008.11  NT_167187.2  NC_018919.2  
Regulatory elements:
   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 Chromatin IP Primers for SLC20A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: S20A2_HUMAN, Q08357 (See protein sequence)
Recommended Name: Sodium-dependent phosphate transporter 2  
Size: 652 amino acids; 70392 Da
Subunit: Homodimer

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

Explore proteomics data for SLC20A2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys272
  • Glycosylation2 at Asn81
  • Modification sites at PhosphoSitePlus

  • See SLC20A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    SLC20A2 Human Recombinant Protein Products:

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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 2
    SLC20 family of sodium-dependent phosphate transporters

    1 InterPro protein domain:
     IPR001204 Phos_transporter

    Graphical View of Domain Structure for InterPro Entry Q08357

    ProtoNet protein and cluster: Q08357

    1 Blocks protein domain: IPB001204 Phosphate transporter

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


    SLC20A2 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001618virus receptor activity IEA--
    GO:0004872receptor activity TAS8302848
    GO:0005315inorganic phosphate transmembrane transporter activity IEA--
    GO:0005436sodium:phosphate symporter activity TAS8302848
         
    SLC20A2 for ontologies           About GeneDecksing


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

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc20a2):
     craniofacial  growth/size/body  homeostasis/metabolism  skeleton  vision/eye 

    SLC20A2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC20A2
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    miRNA
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    miRTarBase miRNAs that target SLC20A2:
    hsa-mir-877-3p (MIRT036941)

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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 plasmidSLC20A2 3' UTR sequence
    Inhib. RNA
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    (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
    S20A2_HUMAN, Q08357: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1

    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 TAS8302848
    GO:0016020membrane TAS8302848
    GO:0070062extracellular vesicular exosome IDA19199708

    SLC20A2 for ontologies           About GeneDecksing


    (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 SLC20A2 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC20A2
        Sodium-coupled phosphate cotransporters



    SLC20A2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC20A2
    Interactions:

        Search GeneGlobe Interaction Network for SLC20A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for SLC20A2 (ENSP000003404654) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC13A3ENSP000002790274STRING: ENSP00000279027
    AP3D1ENSP000003440554STRING: ENSP00000344055
    DYNC1LI1ENSP000002731304STRING: ENSP00000273130
    DYNC1LI2ENSP000002581984STRING: ENSP00000258198
    GSPT1ENSP000003981314STRING: ENSP00000398131
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8302848
    GO:0006811ion transport TAS--
    GO:0006817phosphate ion transport ----
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----

    SLC20A2 for ontologies           About GeneDecksing



    (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 SLC20A2 (S20A2)

    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 inferred 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)



    SLC20A2 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    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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    Selected qRT-PCR 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
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC20A2
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    Additional mRNA sequence: 

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

    8 DOTS entries:

    DT.445748  DT.115909  DT.95071778  DT.95146353  DT.120638587  DT.100819604  DT.75196991  DT.95146363 

    Selected AceView cDNA sequences (see all 316):

    BE048086 W45150 AI318062 AV751519 BE743809 BX098280 BC028600 BU736108 
    W85709 BP366284 BU754144 AI086423 AA703178 BQ024840 CD108769 BM701719 
    BX486881 BM669684 BU625194 BM974460 NM_006749 BM982953 AI419067 BM969474 

    GeneLoc Exon Structure

    Selected 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

    (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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    SLC20A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAGTCCAG
    SLC20A2 Expression
    About this image


    SLC20A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Thyroid (Endocrine System)
    SLC20A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC20A2 Protein Expression

    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 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 SLC20A2 gene from Selected species (see all 18)    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 2 less 75.05(n)
    83.89(a)
      422493  NM_001031133.1  NP_001026304.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC20A26
    solute carrier family 20 (phosphate transporter), ...
    83(a)
    1 ↔ 1
    6(58752966-58788600)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slc20a21 solute carrier family 20 (phosphate transporter), member 2 less 72.66(n)
    82.18(a)
      549658  NM_001016904.2  NP_001016904.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc20a21 solute carrier family 20 (phosphate transporter), member 2 less 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
    B0222.21
    phosphate permease3
    B0222.21
    59(a)
    (best of 5)3
    55.59(n)1
    51.25(a)1
      IV(7394285-7396914)3
    1818571  NM_072969.21  NP_505370.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PHO89(YBR296C)4
    PHO891
    Na+/Pi cotransporter, active in early growth phase; similar to phosphate transporters of Neurospora crassa; transcription regulated by inorganic phosphate concentrations and Pho4p less4
    PHO891
    46.73(n)1
    38.46(a)1
      2(798522-796798)4
    8525991, 4  NP_009855.11, 4 
    rice
    (Oryza sativa)
    Liliopsida Os.95062 Oryza sativa (japonica cultivar-group) cDNA clone002-154-A06, full insert sequence less 73.97(n)    AK067498.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    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



    (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 SLC20A2 (see all 2499)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0675484
    Basal ganglia calcification, idiopathic, 1 (IBGC1)4--see VAR_0675482 T M mis40--------
    VAR_0675504
    Basal ganglia calcification, idiopathic, 1 (IBGC1)4--see VAR_0675502 S W mis40--------
    VAR_0675494
    Basal ganglia calcification, idiopathic, 1 (IBGC1)4--see VAR_0675492 S L mis40--------
    VAR_0675464
    Basal ganglia calcification, idiopathic, 1 (IBGC1)4--see VAR_0675462 G R mis40--------
    VAR_0675474
    Basal ganglia calcification, idiopathic, 1 (IBGC1)4--see VAR_0675472 E K mis40--------
    rs715485821,2
    C--40835408(+) AAAAAAT/-ATATA 3 -- int11Minor allele frequency- -:0.50NA 2
    rs797593181,2
    C--40835425(+) ATATAT/GAGAGA 3 -- int11Minor allele frequency- G:0.00NA 2
    rs723496861,2
    C--40862811(+) AAAAC-/TGTATTT 3 -- int10--------
    rs354069961,2
    C--40862812(+) AAACT-/GTATTTG 3 -- int10--------
    rs346658931,2
    C--40885991(+) GTATT-/TTTA  
            
    TTATT
    2 -- int10--------

    HapMap Linkage Disequilibrium report for SLC20A2 (42273993 - 42397069 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SLC20A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657146CNV Deletion23128226
    esv2656668CNV Deletion23128226
    esv2736937CNV Deletion23290073
    esv988619CNV Insertion20482838
    nsv6170CNV Insertion18451855
    nsv831301CNV Loss17160897
    nsv396084CNV Loss16902084

    Human Gene Mutation Database (HGMD): SLC20A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC20A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC20A2

    (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: 158378   
    OMIM disorders: 213600  
    UniProtKB/Swiss-Prot: S20A2_HUMAN, Q08357
  • Basal ganglia calcification, idiopathic, 1 (IBGC1) [MIM:213600]: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SLC20A2 (see all 21):    
    About MalaCards
    familial idiopathic basal ganglia calcification    primary familial brain calcification 3    primary familial brain calcification    basal ganglia cancification, idiopathic, 1
    arterial calcification of infancy    generalized arterial calcification of infancy    ankylosis    hyperphosphatemia
    hypophosphatemia    leukemia    headache    tremor
    dementia    osteosarcoma    ataxia    tuberculosis
    multiple myeloma    myeloma    thyroiditis    cerebritis

    1 disease from the University of Copenhagen DISEASES database for SLC20A2:
    Generalized arterial calcification of infancy

    SLC20A2 for disorders           About GeneDecksing

    3 Novoseek inferred 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)

    Genetic Association Database (GAD): SLC20A2
    Human Genome Epidemiology (HuGE) Navigator: SLC20A2 (2 documents)

    Export disorders for SLC20A2 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 SLC20A2 gene, integrated from 10 sources (see all 64):
    (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. (Am. J. Physiol. 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. (FEBS J. 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. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    4. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. (PubMed id 22327515)1, 2 Wang C.... Liu J.Y. (Nat. Genet. 2012)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. 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 Boettger P. and Pedersen L. (J. Biol. Chem. 2002)
    7. 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. (J. Virol. 1995)
    8. 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. (J. Virol. 2001)
    9. 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. (J. Virol. 1997)
    10. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. (PubMed id 24065723)1 Nicolas G....Hannequin D. (Brain 2013)

    (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: 6575 HGNC: 10947 AceView: SLC20A2 Ensembl:ENSG00000168575 euGenes: HUgn6575
    ECgene: SLC20A2 H-InvDB: SLC20A2

    (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 SLC20A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC20A2 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 SLC20A2 gene:
    Search GeneIP for patents involving SLC20A2

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



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