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SLC17A2 Gene

protein-coding   GIFtS: 55
GCID: GC06M025912

Solute Carrier Family 17, Member 2

(Previous names: solute carrier family 17 (sodium phosphate), member 2)
  See SLC17A2-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 17, Member 21 2     Sodium Phosphate Transporter 32
NPT32 3 5     Sodium-Dependent Phosphate Transport Protein 32
Sodium/Phosphate Cotransporter 32 3     Solute Carrier Family 17 (Vesicular Glutamate Transporter), Member 22
Na(+)/PI Cotransporter 32 3     Solute Carrier Family 17 Member 23
Solute Carrier Family 17 (Sodium Phosphate), Member 21     

External Ids:    HGNC: 109301   Entrez Gene: 102462   Ensembl: ENSG000001123377   OMIM: 6110495   UniProtKB: O006243   

Export aliases for SLC17A2 gene to outside databases

Previous GC identifers: GC06M025970 GC06M026020 GC06M025856


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SLC17A2 Gene:
SLC17A2 (solute carrier family 17, member 2) is a protein-coding gene. Diseases associated with SLC17A2 include fanconi renotubular syndrome 2, and hypophosphatemic nephrolithiasis/osteoporosis, 1. GO annotations related to this gene include sodium:phosphate symporter activity. An important paralog of this gene is SLC17A7.

UniProtKB/Swiss-Prot: NPT3_HUMAN, O00624
Function: May be involved in actively transporting phosphate into cells via Na(+) cotransport (By similarity)




(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_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC17A2 gene promoter:
         Pbx1a   MEF-2   C/EBPalpha   MEF-2A   POU2F1   POU2F1a   IRF-7A   aMEF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC17A2 promoter sequence
   Search Chromatin IP Primers for SLC17A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC17A2


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p22.2   HGNC cytogenetic band: 6p22.2

SLC17A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC17A2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M025912:  view genomic region     (about GC identifiers)

Start:
25,912,982 bp from pter      End:
25,930,946 bp from pter
Size:
17,965 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, 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: NPT3_HUMAN, O00624 (See protein sequence)
Recommended Name: Sodium-dependent phosphate transport protein 3  
Size: 439 amino acids; 47277 Da
Secondary accessions: A6NLD6 Q5TB84 Q76P85
Alternative splicing: 2 isoforms:  O00624-1   O00624-2   

Explore the universe of human proteins at neXtProt for SLC17A2: NX_O00624

Explore proteomics data for SLC17A2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn47, Asn56, Asn68, Asn69
  • Modification sites at PhosphoSitePlus

  • See SLC17A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001273052.1  NP_001273054.1  NP_005826.1  

    ENSEMBL proteins: 
     ENSP00000353677   ENSP00000265425   ENSP00000367081  

    SLC17A2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SLC17A2

     
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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/phosphate cotransporter 3
    Type I sodium-phosphate co-transporters

    3 InterPro protein domains:
     IPR011701 MFS
     IPR020846 MFS_dom
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry O00624

    ProtoNet protein and cluster: O00624

    UniProtKB/Swiss-Prot: NPT3_HUMAN, O00624
    Similarity: Belongs to the major facilitator superfamily. Sodium/anion cotransporter family


    Find genes that share domains with SLC17A2           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: NPT3_HUMAN, O00624
    Function: May be involved in actively transporting phosphate into cells via Na(+) cotransport (By similarity)

         Genatlas biochemistry entry for SLC17A2:
    solute carrier family 17 (sodium/phosphate cotransport) member 2,predominantly expressed in muscle and heart

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005436sodium:phosphate symporter activity TAS9149941
         
    Find genes that share ontologies with SLC17A2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC17A2:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC17A2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC17A2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC17A2

    miRNA
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    miRTarBase miRNAs that target SLC17A2:
    hsa-mir-335-5p (MIRT019007)

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    1 qRT-PCR Assays for microRNA that regulate SLC17A2:
    hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidSLC17A2 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
    NPT3_HUMAN, O00624: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS9149941
    GO:0016020membrane TAS9149941
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with SLC17A2           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 SLC17A2 About    
    See pathways by source

    SuperPathContained pathways About
    1Osteoblast Signaling
    Osteoblast Signaling


    1 BioSystems Pathway for SLC17A2
        Osteoblast Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC17A2
    Interactions:

        Search GeneGlobe Interaction Network for SLC17A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for SLC17A2 (O006243 ENSP000003536774) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    BSPRYENSP000003632984STRING: ENSP00000363298
    FHL2ENSP000003229094STRING: ENSP00000322909
    MAST2ENSP000003546714STRING: ENSP00000354671
    MPDZENSP000003704104STRING: ENSP00000370410
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    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006796phosphate-containing compound metabolic process TAS9149941
    GO:0006814sodium ion transport TAS9149941
    GO:0035435phosphate ion transmembrane transport TAS9149941
    GO:0035725sodium ion transmembrane transport TAS9149941
    GO:0055085transmembrane transport ----

    Find genes that share ontologies with SLC17A2           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 SLC17A2 (NPT3)

    1 HMDB Compound for SLC17A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--



    (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 SLC17A2 gene (3 alternative transcripts): 
    NM_001286123.1  NM_001286125.1  NM_005835.3  

    Unigene Cluster for SLC17A2:

    Solute carrier family 17 (sodium phosphate), member 2
    Hs.591802  [show with all ESTs]
    Unigene Representative Sequence: NM_005835
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360488(uc011dkc.2) ENST00000265425 ENST00000377850(uc011dkb.2 uc003nfl.3)

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate SLC17A2:
    hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidSLC17A2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC17A2
      QuantiFast Probe-based Assays in human, mouse, rat SLC17A2

    Additional mRNA sequence: 

    BC104822.1 BC112033.1 BC143317.1 BC143323.1 U90544.1 Y10505.1 Z83946.1 

    4 DOTS entries:

    DT.209014  DT.100728794  DT.121363350  DT.121363351 

    17 AceView cDNA sequences:

    U90544 NM_005835 CR598602 C21035 AA344831 AV653531 BX402791 BX382934 
    AV650042 AU098925 Z83946 Z83938 BX330773 H60423 H60468 AV650079 
    AU103847 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC17A2    About this scheme

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


    ECgene alternative splicing isoforms for SLC17A2

    (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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    SLC17A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAAATAAA
    SLC17A2 Expression
    About this image

    SLC17A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC17A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591802

    UniProtKB/Swiss-Prot: NPT3_HUMAN, O00624
    Tissue specificity: Expressed in the small intestine, kidney, spleen and testis. Not detected in fetal brain, bone
    marrow, and mammary gland

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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 chordates.

    Orthologs for SLC17A2 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc17a21 , 5 solute carrier family 17 (sodium phosphate), member more1, 5 85.94(n)1
    88.02(a)1
      13 (9.94 cM)5
    2181031  NM_144836.21  NP_659085.11 
     238069935 
    zebrafish
    (Danio rerio)
    Actinopterygii CU929219.16
    Uncharacterized protein
    29(a)
    1 → many
    19(44811733-44829601) ENSDARG00000086739


    ENSEMBL Gene Tree for SLC17A2 (if available)
    TreeFam Gene Tree for SLC17A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC17A2 gene
    SLC17A72  SLC17A82  SLC17A62  SLC17A32  SLC17A42  SLC17A12  SLC17A52  SLC17A92  
    7 SIMAP similar genes for SLC17A2 using alignment to 2 protein entries:     NPT3_HUMAN (see all proteins):
    SLC17A4    SLC17A1    SLC17A5    SLC17A3    SLC17A6    SLC17A7
    SLC17A8

    Find genes that share paralogs with SLC17A2           About GenesLikeMe



    (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 SLC17A2 (see all 495)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1995824501,2
    Cuntested125921244(+) CCTGCA/C/TATGGT 2 I syn11EU 1287
    rs1813480491,2
    --25912539(+) TAAGAA/CAAATA 1 -- ds50010--------
    rs37993691,2
    C--25912634(+) TTTCTA/GTGCCT 1 -- ds50014Minor allele frequency- G:0.03EA NA 1724
    rs1481095821,2
    --25912703(+) TGAAAC/GTGTCT 1 -- ds50010--------
    rs1418547941,2
    C--25912704(+) GAAAGC/TGTCTC 1 -- ds50010--------
    rs1864243761,2
    --25912758(+) GCTATC/TCCTTC 1 -- ds50010--------
    rs37993701,2
    C,F--25912778(+) CTACAT/GTGCCT 1 -- ds50011Minor allele frequency- G:0.04EA 120
    rs1907707441,2
    --25912815(+) ACAAGC/GCTTCC 1 -- ds50010--------
    rs37993711,2
    C,F,A,H--25912816(+) CAAGCC/TTTCCA 1 -- ds500125Minor allele frequency- T:0.41NS EA NA WA CSA 2768
    rs1830066781,2
    --25912875(+) TCTTGG/TATTGG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC17A2 (25912982 - 25930946 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SLC17A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5229CNV Loss18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC17A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC17A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611049    OMIM disorders: --

    2 diseases for SLC17A2:    
    About MalaCards
    fanconi renotubular syndrome 2    hypophosphatemic nephrolithiasis/osteoporosis, 1


    Find genes that share disorders with SLC17A2           About GenesLikeMe

    Genetic Association Database (GAD): SLC17A2
    Human Genome Epidemiology (HuGE) Navigator: SLC17A2 (5 documents)

    Export disorders for SLC17A2 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 SLC17A2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SLC17A2)
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    1. A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PubMed id 9149941)1, 2, 3 Ruddy D.A.... Feder J.N. (Genome Res. 1997)
    2. Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease. (PubMed id 19890391)1, 4 Stark K....Hengstenberg C. (PLoS ONE 2009)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    4. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PubMed id 19850743)1 Vanderwerf S.M....Bagby G.C. (Blood 2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. [Role of the type 3 sodium-dependent phosphate transporter in the calcification of growth plate chondrocytes]. (PubMed id 17012827)9 Sugita A....Yoneda T. (Clin Calcium 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10246 HGNC: 10930 AceView: SLC17A2 Ensembl:ENSG00000112337 euGenes: HUgn10246
    ECgene: SLC17A2 H-InvDB: SLC17A2

    (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 SLC17A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC17A2 gene:
    Search GeneIP for patents involving SLC17A2

    GeneCards and IP:
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