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SLC34A2 Gene

protein-coding   GIFtS: 62
GCID: GC04P025657

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

(Previous names: solute carrier family 34 (sodium phosphate), member 2)
  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 34 (Type II Sodium/Phosphate Contransporter),
Member 21 2
     Type II Sodium-Dependent Phosphate Transporter 3b2
Solute Carrier Family 34 (Sodium Phosphate), Member 21 2     NaPi-2b3
Sodium/Phosphate Cotransporter 2B2 3     NaPi3b3
NAPI-3B2     Na(+)-Dependent Phosphate Cotransporter 2B3
NAPI-IIb2     Na(+)/Pi Cotransporter 2B3
NPTIIb2     Sodium-Phosphate Transport Protein 2B3
Sodium-Dependent Phosphate Transport Protein 2B2     Solute Carrier Family 34 Member 23

External Ids:    HGNC: 110201   Entrez Gene: 105682   Ensembl: ENSG000001577657   OMIM: 6042175   UniProtKB: O954363   

Export aliases for SLC34A2 gene to outside databases

Previous GC identifers: GC04P025772 GC04P025345 GC04P025408 GC04P025333 GC04P025266 GC04P024995


(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 SLC34A2 Gene:
The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is
increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript
variants encoding two different isoforms have been found for this gene. (provided by RefSeq, May 2010)

GeneCards Summary for SLC34A2 Gene:
SLC34A2 (solute carrier family 34 (type II sodium/phosphate contransporter), member 2) is a protein-coding gene. Diseases associated with SLC34A2 include testicular microlithiasis, and pulmonary alveolar microlithiasis. GO annotations related to this gene include phosphate ion binding and sodium-dependent phosphate transmembrane transporter activity. An important paralog of this gene is SLC34A1.

UniProtKB/Swiss-Prot: NPT2B_HUMAN, O95436
Function: May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main
phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of
surfactant in lungs' alveoli

Gene Wiki entry for SLC34A2 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_000004.12  NC_018915.2  NT_006316.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC34A2 gene promoter:
         ER-alpha   Sox5   AML1a   Lmo2   LCR-F1   E47   HSF2   c-Myb   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC34A2 promoter sequence
   Search Chromatin IP Primers for SLC34A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC34A2


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

Entrez Gene cytogenetic band: 4p15.2   Ensembl cytogenetic band:  4p15.2   HGNC cytogenetic band: 4p15.2

SLC34A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC34A2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P025657:  view genomic region     (about GC identifiers)

Start:
25,656,923 bp from pter      End:
25,680,370 bp from pter
Size:
23,448 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, 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: NPT2B_HUMAN, O95436 (See protein sequence)
Recommended Name: Sodium-dependent phosphate transport protein 2B  
Size: 690 amino acids; 75759 Da
Sequence caution: Sequence=BAC11354.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A5PL17 Q8N2K2 Q8WYA9 Q9P0V7
Alternative splicing: 2 isoforms:  O95436-1   O95436-2   

Explore the universe of human proteins at neXtProt for SLC34A2: NX_O95436

Explore proteomics data for SLC34A2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn295, Asn308, Asn313, Asn321, Asn340
  • Modification sites at PhosphoSitePlus

  • See SLC34A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001171469.1  NP_001171470.1  NP_006415.2  

    ENSEMBL proteins: 
     ENSP00000423038   ENSP00000425501   ENSP00000371483   ENSP00000423021   ENSP00000424266  
    Reactome Protein details: O95436

    SLC34A2 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 phosphate 2
    SLC34 family of sodium phosphate co-transporters

    1 InterPro protein domain:
     IPR003841 Na/Pi_transpt

    Graphical View of Domain Structure for InterPro Entry O95436

    ProtoNet protein and cluster: O95436

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

    UniProtKB/Swiss-Prot: NPT2B_HUMAN, O95436
    Similarity: Belongs to the SLC34A transporter family


    SLC34A2 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: NPT2B_HUMAN, O95436
    Function: May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main
    phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of
    surfactant in lungs' alveoli
    Biophysicochemical properties: pH dependence: Optimum pH is 6.6;
    Induction: Down-regulated by EGF

         Genatlas biochemistry entry for SLC34A2:
    solute carrier family 34 (sodium/phosphate cotransport) member A2, (brain)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005436sodium:phosphate symporter activity IDA10329428
    GO:0005524ATP binding ----
    GO:0015321sodium-dependent phosphate transmembrane transporter activity IDA10329428
    GO:0019904protein domain specific binding IEA--
    GO:0031402sodium ion binding IDA12488042
         
    SLC34A2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC34A2:
     Decreased Hepatitis C virus re 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Slc34a2):
     cardiovascular system  digestive/alimentary  embryogenesis  growth/size/body  homeostasis/metabolism 
     mortality/aging  renal/urinary system  respiratory system 

    SLC34A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SLC34A2: Slc34a2tm1Sega Slc34a2tm1Khan

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC34A2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC34A2
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    miRNA
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    hsa-mir-335-5p (MIRT017160), hsa-mir-26b-5p (MIRT029102)

    Block miRNA regulation of human, mouse, rat SLC34A2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC34A2 (see all 14):
    hsa-miR-300 hsa-miR-520d-5p hsa-miR-625* hsa-miR-381 hsa-let-7a-2* hsa-miR-410 hsa-miR-4287 hsa-miR-3150a-3p
    SwitchGear 3'UTR luciferase reporter plasmidSLC34A2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC34A2


    (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
    NPT2B_HUMAN, O95436: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane NAS10329428
    GO:0005903brush border ----
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS10610722

    SLC34A2 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 SLC34A2 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
    2Mineral absorption
    Mineral absorption

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC34A2
        Type II Na+/Pi cotransporters


    1 Kegg Pathway  (Kegg details for SLC34A2):
        Mineral absorption


    SLC34A2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC34A2: 
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC34A2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for SLC34A2 (ENSP000003714834) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDZD3ENSP000003271074STRING: ENSP00000327107
    PDZK1ENSP000003421434STRING: ENSP00000342143
    RGS3ENSP000002594064STRING: ENSP00000259406
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0006810transport ----
    GO:0006811ion transport TAS--
    GO:0006817phosphate ion transport IDA10329428
    GO:0007568aging IEA--

    SLC34A2 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 SLC34A2 (NPT2B)

    2 HMDB Compounds for SLC34A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    1 Novoseek inferred chemical compound relationship for SLC34A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actinomycin d 42.3 1 11832333 (1)



    SLC34A2 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 SLC34A2 gene (3 alternative transcripts): 
    NM_001177998.1  NM_001177999.1  NM_006424.2  

    Unigene Cluster for SLC34A2:

    Solute carrier family 34 (sodium phosphate), member 2
    Hs.479372  [show with all ESTs]
    Unigene Representative Sequence: NM_001177999
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513204 ENST00000504570 ENST00000382051(uc003grr.3 uc003grs.3 uc010iev.3)
    ENST00000503434 ENST00000507530 ENST00000510033
    miRNA
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    hsa-miR-300 hsa-miR-520d-5p hsa-miR-625* hsa-miR-381 hsa-let-7a-2* hsa-miR-410 hsa-miR-4287 hsa-miR-3150a-3p
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      QuantiFast Probe-based Assays in human, mouse, rat SLC34A2

    Additional mRNA sequence: 

    AB795243.1 AF111856.1 AF146796.1 AK075015.1 AK075045.1 AK075046.1 AK292675.1 AK314514.1 
    BC142704.1 BC146666.1 

    9 DOTS entries:

    DT.97801551  DT.446836  DT.100021521  DT.121238727  DT.97856100  DT.121238707  DT.92047417  DT.95371362 
    DT.121238716 

    Selected AceView cDNA sequences (see all 115):

    AW102841 AI701707 AA477820 AI620114 CA435368 AI686272 AA634679 AA291423 
    BE742577 BE740044 AI866635 AI537880 AK075045 AA459296 BE898768 AW470096 
    AW580274 NM_006424 AA482580 AF146796 AK075015 BE208180 AI189904 AL708905 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SLC34A2    About this scheme

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


    ECgene alternative splicing isoforms for SLC34A2

    (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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    SLC34A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGCCCCGC
    SLC34A2 Expression
    About this image


    SLC34A2 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
     
     Lung (Respiratory System)
             Alveolar type II cells
     
     Ovary (Reproductive System)
             Oviduct
     
     Thyroid (Endocrine System)
    SLC34A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC34A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.479372

    UniProtKB/Swiss-Prot: NPT2B_HUMAN, O95436
    Tissue specificity: Highly expressed in lung. Also detected in pancreas, kidney, small intestine, ovary, testis,
    prostate and mammary gland. In lung, it is found in alveolar type II cells but not in bronchiolar epithelium

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC34A2: 
              Polycomb & Trithorax Target Genes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC34A2

    (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 SLC34A2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc34a21 , 5 solute carrier family 34 (sodium phosphate), member more1, 5 80.72(n)1
    80.33(a)1
      5 (28.92 cM)5
    205311  NM_011402.31  NP_035532.21 
     530380825 
    chicken
    (Gallus gallus)
    Aves SLC34A21 solute carrier family 34 (sodium phosphate), member more 65.54(n)
    65.08(a)
      395131  NM_204474.1  NP_989805.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC34A26
    solute carrier family 34 (type II sodium/phosphate...
    64(a)
    1 ↔ 1
    GL343348.1(333719-372277)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.55962 Xenopus laevis transcribed sequence with weak similarity more 77.81(n)    BX847427.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc34a2b1 solute carrier family 34 (sodium phosphate), member more 64.25(n)
    63.15(a)
      359838  NM_182877.2  NP_878297.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK563.23 sodium-dependent phosphate transporter 40(a)   X(3404257-3408365)   --


    ENSEMBL Gene Tree for SLC34A2 (if available)
    TreeFam Gene Tree for SLC34A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC34A2 gene
    SLC34A12  SLC34A32  
    4 SIMAP similar genes for SLC34A2 using alignment to 3 protein entries:     NPT2B_HUMAN (see all proteins):
    SLC34A2-ROS1    SLC34A2/ROS1 fusion    SLC34A1    SLC34A3

    SLC34A2 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 SLC34A2 (see all 684)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0306774
    Pulmonary alveolar microlithiasis (PALM)4--see VAR_0306772 G R mis40--------
    rs1442397271,2
    Cuntested125606209(+) TTTTTC/TGTGTG 6 F syn10--------
    rs624094311,2
    C,F--25013357(+) GGCCTG/CACATG 3 -- int12Minor allele frequency- C:0.07NA EU 999
    rs624094361,2
    C--25013364(+) CATGTG/AGTCAC 3 -- int11Minor allele frequency- A:0.00NA 2
    rs1434907421,2
    C--25013364(+) ATGTA-/GGCCTT
    GAGGGATG
    GTCAC
    3 -- int10--------
    rs562114331,2
    C,F--25595929(+) AAATGA/GAAGCC 2 -- us2k14Minor allele frequency- G:0.11WA NA 242
    rs1489665611,2
    --25595982(+) AGACCC/TGCTCC 2 -- us2k10--------
    rs1907565101,2
    --25595994(+) GTGAAC/TCCCCA 2 -- us2k10--------
    rs1436291681,2
    --25596044(+) TTGCCA/GAATCC 2 -- us2k10--------
    rs1480891981,2
    --25596150(+) CAGTCC/TGCCTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC34A2 (25656923 - 25680370 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC34A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507156CNV Insertion20534489
    nsv526729CNV Loss19592680
    nsv878765CNV Gain21882294
    nsv878761CNV Gain21882294

    Human Gene Mutation Database (HGMD): SLC34A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC34A2
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC34A2

    (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: 604217   
    OMIM disorders: 265100  610441  
    UniProtKB/Swiss-Prot: NPT2B_HUMAN, O95436
  • Pulmonary alveolar microlithiasis (PALM) [MIM:265100]: Rare disease characterized by the deposition of
    calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for
    decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases
    with early-onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical
    diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and
    the disease follows a long-term, progressive course, resulting in a slow deterioration of lung functions.
    Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Note=A chromosomal aberration involving SLC34A2 is found in a glioblastoma multiforme cell line U-118MG.
    Results in the formation of a SLC34A2-ROS1 chimeric protein that retains a constitutive kinase activity

  • 9 diseases for SLC34A2:    
    About MalaCards
    testicular microlithiasis    pulmonary alveolar microlithiasis    gout    papillary thyroid carcinoma
    thyroiditis    multiple myeloma    myeloma    breast cancer
    prostatitis

    1 disease from the University of Copenhagen DISEASES database for SLC34A2:
    Pulmonary alveolar microlithiasis

    SLC34A2 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: SLC34A2 (1 document)

    Export disorders for SLC34A2 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 SLC34A2 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with SLC34A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, functional characterization, tissue distribution, and chromosomal localization of a human, small intestinal sodium- phosphate (Na+-Pi) transporter (SLC34A2). (PubMed id 10610722)1, 2, 3, 9 Xu H.... Ghishan F.K. (Genomics 1999)
    2. Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine. (PubMed id 10329428)1, 2, 3 Feild J.A.... Edwards R.M. (Biochem. Biophys. Res. Commun. 1999)
    3. Regulation of the human sodium-phosphate cotransporter NaPi-IIb gene promoter by epidermal growth factor. (PubMed id 11171583)1, 2, 9 Xu H.... Ghishan F.K. (Am. J. Physiol. 2001)
    4. Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. (PubMed id 16960801)1, 2 Corut A.... Tolun A. (Am. J. Hum. Genet. 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Regulation of intestinal NaPi-IIb cotransporter gene expression by estrogen. (PubMed id 12893629)1, 9 Xu H....Ghishan F.K. (Am. J. Physiol. Gastrointest. Liver Physiol. 2003)
    7. [A novel mutation of the SLC34A2 gene in a Chinese pedigree with pulmonary alveolar microlithiasis]. (PubMed id 20017296)1, 9 Zhong Y.Q....Nie H.P. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009)
    8. SLC34A2 Gene mutation of pulmonary alveolar microlithiasis: report of four cases and review of literatures. (PubMed id 23164546)1 Yin X....Dai Y. (Respir Med 2013)
    9. SLC34A2 gene mutation may explain comorbidity of pulmonary alveolar microlithiasis and aortic valve sclerosis. (PubMed id 22336687)1 JAPnsson A.8.L....Simonsen U. (Am. J. Respir. Crit. Care Med. 2012)
    10. In silico analysis and immunohistochemical characterization of NaPi2b protein expression in ovarian carcinoma with monoclonal antibody Mx35. (PubMed id 22553815)1 Soares I.C....Alves V.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 10568 HGNC: 11020 AceView: SLC34A2 Ensembl:ENSG00000157765 euGenes: HUgn10568
    ECgene: SLC34A2 Kegg: 10568 H-InvDB: SLC34A2

    (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 SLC34A2 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 SLC34A2 gene:
    Search GeneIP for patents involving SLC34A2

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



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