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

SLC34A3 Gene

protein-coding   GIFtS: 59
GCID: GC09P140125

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

(Previous names: solute carrier family 34 (sodium phosphate), member 3)
  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)
About This Section

Aliases
Solute Carrier Family 34 (Type II Sodium/Phosphate Contransporter),
Member 31 2
     NPTIIc2
Solute Carrier Family 34 (Sodium Phosphate), Member 31 2     naPi-2c2
Sodium-Phosphate Transport Protein 2C2 3     Sodium-Dependent Phosphate Transport Protein 2C2
Sodium/Inorganic Phosphate Cotransporter IIC2 3     Type IIc Na+/Pi Cotransporter2
Na(+)-Dependent Phosphate Cotransporter 2C2 3     NPT2C3
Na(+)/Pi Cotransporter 2C2 3     NaPi-2c3
HHRH2 5     Sodium/Phosphate Cotransporter 2C3
NPTIIC3 5     Solute Carrier Family 34 Member 33

External Ids:    HGNC: 203051   Entrez Gene: 1426802   Ensembl: ENSG000001985697   OMIM: 6098265   UniProtKB: Q8N1303   

Export aliases for SLC34A3 gene to outside databases

Previous GC identifers: GC09U900363 GC09P137401 GC09P139245 GC09P109584


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC34A3 Gene:
This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It
is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and
contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are
associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript
variants varying in the 5' UTR have been found for this gene.(provided by RefSeq, Apr 2010)

GeneCards Summary for SLC34A3 Gene: 
SLC34A3 (solute carrier family 34 (type II sodium/phosphate contransporter), member 3) is a protein-coding gene. Diseases associated with SLC34A3 include hypophosphatemic rickets with hypercalciuria, and hereditary hypophosphatemic rickets, and among its related super-pathways are Sodium-coupled phosphate cotransporters and Transmembrane transport of small molecules. GO annotations related to this gene include sodium:phosphate symporter activity and sodium-dependent phosphate transmembrane transporter activity. An important paralog of this gene is SLC34A1.

UniProtKB/Swiss-Prot: NPT2C_HUMAN, Q8N130
Function: May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush
border membrane. Probably mediates 20-30% of the apical influx

Gene Wiki entry for SLC34A3 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_024000.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC34A3 gene promoter:
         RP58   FOXF2   SREBP-1c   E47   SREBP-1b   Roaz   SREBP-1a   HOXA5   c-Myb   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC34A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC34A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC34A3


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

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

SLC34A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC34A3 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P140125:  view genomic region     (about GC identifiers)

Start:
140,125,209 bp from pter      End:
140,131,006 bp from pter
Size:
5,798 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NPT2C_HUMAN, Q8N130 (See protein sequence)
Recommended Name: Sodium-dependent phosphate transport protein 2C  
Size: 599 amino acids; 63550 Da
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: A 2:1 stoichiometry to Na(+)/Pi is observed at pH 7.4
Secondary accessions: A2BFA1

Explore the universe of human proteins at neXtProt for SLC34A3: NX_Q8N130

Explore proteomics data for SLC34A3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N130

  • SLC34A3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC34A3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001170787.1  NP_001170788.1  NP_543153.1  

    ENSEMBL proteins: 
     ENSP00000355353   ENSP00000442397  
    Reactome Protein details: Q8N130
    Human Recombinant Protein Products for SLC34A3: 
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    Cloud-Clone Corp. Proteins for SLC34A3 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005903brush border IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--
    GO:0016324apical plasma membrane ISS11880379

    SLC34A3 for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Sodium phosphate 3 
    SLC34 family of sodium phosphate co-transporters

    1 InterPro protein domain:
     IPR003841 Na/Pi_transpt

    Graphical View of Domain Structure for InterPro Entry Q8N130

    ProtoNet protein and cluster: Q8N130

    2 Blocks protein domains:
    IPB000847 Bacterial regulatory protein LysR
    IPB003841 Na+/Pi-cotransporter


    UniProtKB/Swiss-Prot: NPT2C_HUMAN, Q8N130
    Similarity: Belongs to the SLC34A transporter family


    SLC34A3 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NPT2C_HUMAN, Q8N130
    Function: May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush
    border membrane. Probably mediates 20-30% of the apical influx
    Biophysicochemical properties: Kinetic parameters: KM=79 uM for phosphate;

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005436sodium:phosphate symporter activity IDA11880379
    GO:0015321sodium-dependent phosphate transmembrane transporter activity IDA11880379
         
    SLC34A3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SLC34A3:
     Decreased viability with pacli  Increased circadian period len 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc34a3):
     digestive/alimentary  growth/size  homeostasis/metabolism  renal/urinary system  skeleton 

    SLC34A3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slc34a3tm1Kimi for SLC34A3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC34A3 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC34A3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC34A3 

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    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC34A3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Type II Na+/Pi cotransporters
    Sodium-coupled phosphate cotransporters0.60
    Type II Na+/Pi cotransporters0.60
    2SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transmembrane transport of small molecules0.50
    3Amino acid and oligopeptide SLC transporters
    Transport of inorganic cations/anions and amino acids/oligopeptides0.52

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for SLC34A3
        Sodium-coupled phosphate cotransporters
    SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of inorganic cations/anions and amino acids/oligopeptides
    Type II Na+/Pi cotransporters



    SLC34A3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC34A3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for SLC34A3 (Q8N1303 ENSP000003553534) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDZK1Q5T2W13, ENSP000003421434I2D: score=1 STRING: ENSP00000342143
    KCNMA1Q127913I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006814sodium ion transport IDA11880379
    GO:0006817phosphate ion transport IDA11880379
    GO:0030643cellular phosphate ion homeostasis IDA16358214
    GO:0044341sodium-dependent phosphate transport ----

    SLC34A3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC34A3 (NPT2C)

    1 HMDB Compound for SLC34A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about SLC34A3 / NPT2C

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC34A3 gene (3 alternative transcripts): 
    NM_001177316.1  NM_001177317.1  NM_080877.2  

    Unigene Cluster for SLC34A3:

    Solute carrier family 34 (sodium phosphate), member 3
    Hs.432442  [show with all ESTs]
    Unigene Representative Sequence: AL832449
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361134(uc004cmc.1 uc004cmf.1) ENST00000538474(uc022bqf.1 uc011met.2)

    miRNA
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    Additional mRNA sequence: 

    AB055000.1 AK095999.1 AL832449.1 BC029942.1 

    3 DOTS entries:

    DT.99927286  DT.99998152  DT.91741886 

    13 AceView cDNA sequences:

    AL832449 BI759725 BF512117 BI767804 AB055000 AK095999 BI764498 BC029942 
    NM_080877 BM924836 BI052039 AW194758 AW016894 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SLC34A3 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14
    SP1:                                                                                                                                -         
    SP2:                    -     -                                                                                                               
    SP3:                    -     -                                         -     -                                                               
    SP4:                    -     -                                                                                                               
    SP5:                          -                                                                                                               


    ECgene alternative splicing isoforms for SLC34A3

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

    SLC34A3 expression in normal human tissues (normalized intensities)      SLC34A3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGTCGGGG
    SLC34A3 Expression
    About this image


    SLC34A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)
             Proximal Tubule Cells Proximal Tubule
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter

    See SLC34A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC34A3

    SOURCE GeneReport for Unigene cluster: Hs.432442
        SABiosciences Custom PCR Arrays for SLC34A3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC34A3

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

    This gene was present in the common ancestor of animals.

    Orthologs for SLC34A3 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc34a31 , 5 solute carrier family 34 (sodium phosphate), member more1, 5 80.04(n)1
    80.27(a)1
      2 (17.09 cM)5
    1426811  NM_080854.31  NP_543130.21 
     252288985 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK563.26
    Protein ZK563.2
    28(a)
    1 → many
    X(3368959-3373217)


    ENSEMBL Gene Tree for SLC34A3 (if available)
    TreeFam Gene Tree for SLC34A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC34A3 gene
    SLC34A12  SLC34A22  
    3 SIMAP similar genes for SLC34A3 using alignment to 2 protein entries:     NPT2C_HUMAN (see all proteins):
    SLC34A2    SLC34A2-ROS1    SLC34A1

    SLC34A3 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/323 SNPs in SLC34A3 are shown (see all 323)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0257134
    Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)4--see VAR_0257132 R L mis40--------
    VAR_0257074
    Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)4--see VAR_0257072 S F mis40--------
    VAR_0257094
    Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)4--see VAR_0257092 S L mis40--------
    VAR_0257144
    Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)4--see VAR_0257142 A E mis40--------
    VAR_0257104
    Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)4--see VAR_0257102 G R mis40--------
    VAR_0257154
    Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)4--see VAR_0257152 R W mis40--------
    rs1219182391,2
    Cpathogenic1140164875(+) GTGCAA/GGTGAG 6 Q syn10--------
    rs1219182361,2
    Cpathogenic1140165193(+) CAGCCA/GGTGAG 6 P syn10--------
    rs1219182341,2
    C,Fpathogenic1140165712(+) CGGCCG/TCGTGG 6 R L mis12Minor allele frequency- T:0.00NA EU 4591
    rs1219182351,2
    Cpathogenic1140166105(+) CCGGGA/C/TGTACC 6 E A mis10--------

    HapMap Linkage Disequilibrium report for SLC34A3 (140125209 - 140131006 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/30 variations for SLC34A3 (see all 30):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422220CNV Deletion17116639
    nsv894640CNV Loss21882294
    dgv8416n71CNV Loss21882294
    dgv8445n71CNV Loss21882294
    dgv8441n71CNV Loss21882294
    dgv8428n71CNV Loss21882294
    dgv8456n71CNV Loss21882294
    nsv894521CNV Loss21882294
    dgv8450n71CNV Loss21882294
    dgv8423n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): SLC34A3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC34A3
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609826   
    OMIM disorders: 241530  
    UniProtKB/Swiss-Prot: NPT2C_HUMAN, Q8N130
  • Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]: Autosomal recessive form of
    hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of
    1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 9 diseases for SLC34A3:    About MalaCards
    hypophosphatemic rickets with hypercalciuria    hereditary hypophosphatemic rickets    hereditary hypophosphatemic rickets with hypercalciuria    x-linked hypophosphatemia
    rickets    hypophosphatemia    nephrolithiasis    nephrocalcinosis
    osteomalacia

    6 diseases from the University of Copenhagen DISEASES database for SLC34A3:
    X-linked hypophosphatemia     Hypophosphatemia     Rickets     Osteomalacia
    Nephrocalcinosis     Nephrolithiasis

    SLC34A3 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for SLC34A3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rickets hypophosphatemic 90.3 4 19820004 (1), 18996815 (1), 16849419 (1), 20074341 (1)
    hypophosphatemia 89.5 1 18996815 (1)
    rickets 88.4 2 17872384 (1), 18446382 (1)
    hypercalciuria 86.1 5 19820004 (2), 18996815 (1), 16849419 (1), 20074341 (1)
    nephrolithiasis 68.9 1 17872384 (1), 18446382 (1)


    Export disorders for SLC34A3 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

    PubMed articles for SLC34A3 gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with SLC34A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. (PubMed id 16358215)1, 2, 3, 9 Lorenz-Depiereux B.... Strom T.M. (2006)
    2. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium- phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. (PubMed id 16358214)1, 2, 3 Bergwitz C....Jueppner H. (2006)
    3. Growth-related renal type II Na/Pi cotransporter. (PubMed id 11880379)1, 2, 3 Segawa H.... Miyamoto K. (2002)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Hypophosphatemic rickets with hypercalciuria due to m utation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hyp ercalciuria and nephrolithiasis. (PubMed id 19820004)1, 9 Tencza A.L....Levine M.A. (2009)
    6. Novel SLC34A3 mutation causing hereditary hypophosphat aemic rickets with hypercalciuria in a Gambian family. (PubMed id 23246670)1 Braithwaite V....Prentice A. (2013)
    7. Hereditary hypophosphatemic rickets with hypercalciuri a: case report. (PubMed id 22806288)1 Areses-Trapote R....Saez-Villaverde R. (2012)
    8. Novel NaPi-IIc mutations causing HHRH and idiopathic h ypercalciuria in several unrelated families: long-term follow-up in one kindred. (PubMed id 22387237)1 Yu Y....Bergwitz C. (2012)
    9. SLC34A3 intronic deletion in a new kindred with heredi tary hypophosphatemic rickets with hypercalciuria. (PubMed id 22672866)1 Hasani-Ranjbar S....Larijani B. (2012)
    10. Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic r ickets with hypercalciuria. (PubMed id 22159077)1 Haito-Sugino S....Miyamoto K. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 142680 HGNC: 20305 AceView: SLC34A3 Ensembl:ENSG00000198569 euGenes: HUgn142680
    ECgene: SLC34A3 H-InvDB: SLC34A3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC34A3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC34A3 gene:
    Search GeneIP for patents involving SLC34A3

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



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