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SLC34A1 Gene

protein-coding   GIFtS: 60
GCID: GC05P176812

Solute Carrier Family 34 (Type II Sodium/Phosphate Contransporter),...

(Previous names: solute carrier family 34 (sodium phosphate), member 1)
(Previous symbols: NPT2, SLC17A2)
  See SLC34A1-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 34 (Type II Sodium/Phosphate Contransporter),
Member 11 2
     NPHLOP12 5
NPT21 2 3 5     Member 21
SLC17A21 2 3 5     Solute Carrier Family 17 (Sodium Phosphate)1
Solute Carrier Family 34 (Sodium Phosphate), Member 11 2     NAPI-32
Na+-Phosphate Cotransporter Type II1 2     NPTIIa2
Sodium/Phosphate Co-Transporter1 2     SLC112
Sodium-Phosphate Transport Protein 2A2 3     naPi-2a2
Sodium/Phosphate Cotransporter 2A2 3     Renal Sodium-Dependent Phosphate Transporter2
Solute Carrier Family 34 Member 12 3     Sodium-Dependent Phosphate Transport Protein 2A2
Na(+)-Dependent Phosphate Cotransporter 2A2 3     Solute Carrier Family 17 (Sodium Phosphate), Member 22
Na(+)/Pi Cotransporter 2A2 3     NaPi-2a3
FRTS22 5     NaPi-33

External Ids:    HGNC: 110191   Entrez Gene: 65692   Ensembl: ENSG000001311837   OMIM: 1823095   UniProtKB: Q064953   

Export aliases for SLC34A1 gene to outside databases

Previous GC identifers: GC05P177184 GC05P177653 GC05P176747 GC05P176792 GC05P176744 GC05P171732


(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 SLC34A1 Gene:
This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are
associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Nov 2009)

GeneCards Summary for SLC34A1 Gene:
SLC34A1 (solute carrier family 34 (type II sodium/phosphate contransporter), member 1) is a protein-coding gene. Diseases associated with SLC34A1 include hypophosphatemic nephrolithiasis/osteoporosis, 1, and fanconi renotubular syndrome. GO annotations related to this gene include sodium-dependent phosphate transmembrane transporter activity and symporter activity. An important paralog of this gene is SLC34A3.

UniProtKB/Swiss-Prot: NPT2A_HUMAN, Q06495
Function: May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush
border membrane. Probably mediates 70-80% of the apical influx




(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_000005.9  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC34A1 gene promoter:
         c-Fos   p53   AP-1   JunB   FosB   Fra-1   STAT5A   YY1   JunD   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC34A1 promoter sequence
   Search Chromatin IP Primers for SLC34A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC34A1


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

Entrez Gene cytogenetic band: 5q35   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

SLC34A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC34A1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P176812:  view genomic region     (about GC identifiers)

Start:
176,806,236 bp from pter      End:
176,825,849 bp from pter
Size:
19,614 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: NPT2A_HUMAN, Q06495 (See protein sequence)
Recommended Name: Sodium-dependent phosphate transport protein 2A  
Size: 639 amino acids; 68937 Da
Subunit: Interacts via its C-terminal region with PDZK2 (By similarity). Interacts with SLC9A3R1
Secondary accessions: B4DPE3
Alternative splicing: 2 isoforms:  Q06495-1   Q06495-2   

Explore the universe of human proteins at neXtProt for SLC34A1: NX_Q06495

Explore proteomics data for SLC34A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn298, Asn323, Asn330
  • Modification sites at PhosphoSitePlus

  • See SLC34A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161051.1  NP_003043.3  

    ENSEMBL proteins: 
     ENSP00000423733   ENSP00000423022   ENSP00000321424  
    Reactome Protein details: Q06495

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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 1
    SLC34 family of sodium phosphate co-transporters

    1 InterPro protein domain:
     IPR003841 Na/Pi_transpt

    Graphical View of Domain Structure for InterPro Entry Q06495

    ProtoNet protein and cluster: Q06495

    1 Blocks protein domain: IPB003841 Na+/Pi-cotransporter

    UniProtKB/Swiss-Prot: NPT2A_HUMAN, Q06495
    Similarity: Belongs to the SLC34A transporter family


    Find genes that share domains with SLC34A1           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: NPT2A_HUMAN, Q06495
    Function: May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush
    border membrane. Probably mediates 70-80% of the apical influx

         Genatlas biochemistry entry for SLC34A1:
    solute carrier family 34 (sodium/phosphate cotransport) member 1,expressed in kidney

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17895247
    GO:0015293symporter activity IEA--
    GO:0015321sodium-dependent phosphate transmembrane transporter activity IDA8327470
    GO:0030165PDZ domain binding IEA--
    GO:0032403protein complex binding IEA--
         
    Find genes that share ontologies with SLC34A1           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slc34a1):
     behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging  muscle 
     no phenotypic analysis  renal/urinary system  reproductive system  skeleton 

    Find genes that share phenotypes with SLC34A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc34a1tm1Hten for SLC34A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC34A1
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    miRNA
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    miRTarBase miRNAs that target SLC34A1:
    hsa-mir-335-5p (MIRT019007)

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    hsa-miR-4254 hsa-miR-4308 hsa-miR-1912
    SwitchGear 3'UTR luciferase reporter plasmidSLC34A1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC34A1


    (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
    NPT2A_HUMAN, Q06495: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane NAS8327470
    GO:0009986cell surface IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with SLC34A1           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 SLC34A1 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
    Type II Na+/Pi cotransporters0.00
    Transmembrane transport of small molecules0.47
    Sodium-coupled phosphate cotransporters0.00
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38


    Find genes that share SuperPaths with SLC34A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC34A1
        Type II Na+/Pi cotransporters


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC34A1
    Interactions:

        GeneGlobe Interaction Network for SLC34A1

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

    Selected Interacting proteins for SLC34A1 (Q064953 ENSP000003214244) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC9A3R1O147453, ENSP000002626134I2D: score=4 STRING: ENSP00000262613
    BSPRYQ5W0U43, ENSP000003632984I2D: score=3 STRING: ENSP00000363298
    RGS3P497963, ENSP000002594064I2D: score=2 STRING: ENSP00000259406
    HPCAL1P372353, ENSP000003107494I2D: score=1 STRING: ENSP00000310749
    PEX19P408553, ENSP000003570514I2D: score=2 STRING: ENSP00000357051
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IEA--
    GO:0001822kidney development IEA--
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport IEA--
    GO:0006817phosphate ion transport IDA8327470

    Find genes that share ontologies with SLC34A1           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 SLC34A1 (NPT2A)

    8 Novoseek inferred chemical compound relationships for SLC34A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    foscarnet 78.5 7 11009570 (1), 15569318 (1), 11576919 (1), 15648030 (1) (see all 5)
    calcitriol 62 2 12674325 (1), 15256067 (1)
    1,25 dihydroxy vitamin d3 42.6 1 9210418 (1)
    vitamin d 37.9 4 9210418 (2), 19844248 (1)
    calcium 36.7 6 15569318 (2), 11009570 (1), 11576919 (1), 15648030 (1)
    sodium 22.4 2 20031638 (1), 17686957 (1)
    phosphorus 19.4 1 15569318 (1)
    chloride 15 1 15021200 (1)



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    (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 SLC34A1 gene (2 alternative transcripts): 
    NM_001167579.1  NM_003052.4  

    Unigene Cluster for SLC34A1:

    Solute carrier family 34 (sodium phosphate), member 1
    Hs.936  [show with all ESTs]
    Unigene Representative Sequence: BC034756
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504577 ENST00000512593(uc021yis.1) ENST00000324417(uc003mgk.4)
    ENST00000507685 ENST00000513614
    miRNA
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    hsa-miR-4254 hsa-miR-4308 hsa-miR-1912
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    Additional mRNA sequence: 

    AK096088.1 AK298299.1 BC034756.1 BC050385.1 BC053349.1 L13258.1 

    5 DOTS entries:

    DT.40105987  DT.101980508  DT.433340  DT.99935742  DT.75179193 

    Selected AceView cDNA sequences (see all 28):

    BU177234 AW271315 BF434488 BI759164 BC050385 BC053349 NM_003052 BC034756 
    AA887569 AK096088 BM924499 AW295295 BF509660 AI800251 BI761631 BC035294 
    BI759783 L13258 AW235644 BI518398 AI916543 AW237484 AI650347 BI762265 

    GeneLoc Exon Structure


    (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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    SLC34A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGGGGGTG
    SLC34A1 Expression
    About this image


    SLC34A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Endochondral Facial Bones
     
     Kidney (Urinary System)
             Metanephros
     
     Eye (Sensory Organs)
             Retina
    SLC34A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC34A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.936

    UniProtKB/Swiss-Prot: NPT2A_HUMAN, Q06495
    Tissue specificity: Kidney and lung

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    In Situ
    Assay Products:
     

     
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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 animals.

    Orthologs for SLC34A1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc34a11 , 5 solute carrier family 34 (sodium phosphate), member more1, 5 86.24(n)1
    91.21(a)1
      13 (29.81 cM)5
    205051  NM_011392.21  NP_035522.21 
     553996485 
    chicken
    (Gallus gallus)
    Aves SLC34A11 solute carrier family 34 (sodium phosphate), member more 77.08(n)
    77.88(a)
      395402  XM_425204.4  XP_425204.4 
    lizard
    (Anolis carolinensis)
    Reptilia SLC34A16
    solute carrier family 34 (type II sodium/phosphate...
    64(a)
    1 ↔ 1
    2(145958443-145985116)
    zebrafish
    (Danio rerio)
    Actinopterygii slc34a2b2 solute carrier family 34 (sodium phosphate), member more 78.34(n)   359838  AF297180.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK563.21 , 3 sodium-dependent phosphate transporter3
    ZK563.21
    38(a)3
    43.11(n)1
    34.17(a)1
      X(3404257-3408365)3
    1913511  NM_076180.41  NP_508581.21 


    ENSEMBL Gene Tree for SLC34A1 (if available)
    TreeFam Gene Tree for SLC34A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC34A1 gene
    SLC34A32  SLC34A22  
    3 SIMAP similar genes for SLC34A1 using alignment to 5 protein entries:     NPT2A_HUMAN (see all proteins):
    SLC34A2    SLC34A2-ROS1    SLC34A3

    Find genes that share paralogs with SLC34A1           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 SLC34A1 (see all 475)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0247664
    Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)4--see VAR_0247662 V M mis40--------
    VAR_0247654
    Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)4--see VAR_0247652 A F mis40--------
    rs106250021,2
    C--176819466(+) TCTCA-/AAAT  
            
    AAATA
    1 -- int10--------
    rs98000591,2
    C,F--176823489(+) GGTCCG/TCTCTC 1 -- int1 trp32Minor allele frequency- T:0.50NA WA 4
    rs608019341,2
    C--176824697(+) CGGGG-/GGTTCCT 1 -- int10--------
    rs558532411,2
    C,F--177033873(+) ACAGAG/CCACTT 2 -- us2k12Minor allele frequency- C:0.15WA EA 238
    rs1835993821,2
    --177033904(+) CAGGGA/GAGATG 2 -- us2k10--------
    rs1480254791,2
    --177034007(+) GAGTTA/GGAAAC 2 -- us2k10--------
    rs77083141,2
    C,F,A,H--177034012(+) ggaaaC/Tgagga 2 -- us2k1 tfbs320Minor allele frequency- T:0.11NS EA NA WA 2578
    rs1417274551,2
    --177034013(+) GAAACA/GAGGAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC34A1 (176806236 - 176825849 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC34A1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4214CNV Deletion18987735
    esv2675618CNV Deletion23128226
    esv1007597CNV Deletion20482838
    esv2731189CNV Deletion23290073
    esv2731190CNV Deletion23290073
    nsv509103CNV Insertion20534489
    dgv6382n71CNV Loss21882294
    nsv471057CNV Loss18288195
    nsv883167CNV Loss21882294
    nsv883164CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC34A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC34A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC34A1

    (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

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    OMIM gene information: 182309   
    OMIM disorders: 612286  613388  
    UniProtKB/Swiss-Prot: NPT2A_HUMAN, Q06495
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) [MIM:612286]: A disease characterized by
    decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia,
    hypercalciuria, nephrolithiasis and osteoporosis. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Fanconi renotubular syndrome 2 (FRTS2) [MIM:613388]: A disease due to a generalized dysfunction of the
    proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and
    polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or
    osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for SLC34A1:    
    About MalaCards
    hypophosphatemic nephrolithiasis/osteoporosis, 1    fanconi renotubular syndrome    fanconi renotubular syndrome 2    hereditary hypophosphatemic rickets
    pulmonary alveolar microlithiasis    hypophosphatemic rickets with hypercalciuria    hereditary hypophosphatemic rickets with hypercalciuria    hypophosphatemia
    nephrolithiasis    hyperphosphatemia    sotos syndrome    x-linked hypophosphatemia
    nephrocalcinosis    rickets    osteoporosis

    3 diseases from the University of Copenhagen DISEASES database for SLC34A1:
    Hypophosphatemia     X-linked hypophosphatemia     Nephrolithiasis

    Find genes that share disorders with SLC34A1           About GenesLikeMe

    7 Novoseek inferred disease relationships for SLC34A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rickets hypophosphatemic 85.8 2 8691720 (1)
    hypophosphatemia 83.1 1 20031638 (1)
    hyperphosphatemia 82.3 5 20031638 (3), 19329835 (1)
    hypercalciuria 67 4 12674325 (1), 9560283 (1), 15021200 (1)
    calcification 63.3 15 16527991 (2), 15577061 (1), 16408509 (1), 19329835 (1) (see all 12)
    nephrocalcinosis 47.7 2 12674325 (1)
    renal stone 46.4 1 12674325 (1)

    Genetic Association Database (GAD): SLC34A1
    Human Genome Epidemiology (HuGE) Navigator: SLC34A1 (2 documents)

    Export disorders for SLC34A1 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)
    About This Section

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    PubMed articles for SLC34A1 gene, integrated from 10 sources (see all 96):
    (articles sorted by number of sources associating them with SLC34A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression cloning of human and rat renal cortex Na/Pi cotransport. (PubMed id 8327470)1, 2, 3, 9 Magagnin S.... Murer H. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    2. Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2). (PubMed id 8693007)1, 3, 9 Hartmann C.M.... Tenenhouse H.S. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    3. A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism. (PubMed id 22506049)1, 2 Courbebaisse M.... Prie D. (PLoS ONE 2012)
    4. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. (PubMed id 20335586)1, 2 Magen D.... Skorecki K. (N. Engl. J. Med. 2010)
    5. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1, 4 KAPttgen A....Fox C.S. (Nat. Genet. 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. (PubMed id 12324554)1, 2 Prie D.... Friedlander G. (N. Engl. J. Med. 2002)
    8. Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2. (PubMed id 12674325)1, 9 Chau H....Tenenhouse H.S. (J. Bone Miner. Res. 2003)
    9. Phosphate transport by the human renal cotransporter NaPi-3 expressed in HEK-293 cells. (PubMed id 9530108)1, 9 Timmer R.T. and Gunn R.B. (Am. J. Physiol. 1998)
    10. Gene structure and functional analysis of the human Na+/phosphate co-transporter. (PubMed id 9210418)1, 9 Taketani Y....Takeda E. (Biochem. J. 1997)

    (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)
    About This Section

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    Entrez Gene: 6569 HGNC: 11019 AceView: SLC34A1 Ensembl:ENSG00000131183 euGenes: HUgn6569
    ECgene: SLC34A1 H-InvDB: SLC34A1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for SLC34A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SLC34A1 gene:
    Search GeneIP for patents involving SLC34A1

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



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