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SLC9A3 Gene

protein-coding   GIFtS: 62
GCID: GC05M000473

Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton...

(Previous names: solute carrier family 9 (sodium/hydrogen exchanger), isoform...)
(Previous symbol: NHE3)
  See SLC9A3-related disease
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 9, Subfamily A (NHE3, Cation Proton Antiporter
3), Member 31 2
     Na(+)/H(+) Exchanger 32 3
NHE31 2 3 5     Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 31
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 31 2     Sodium/Hydrogen Exchanger 32
Solute Carrier Family 9 Member 32 3     Solute Carrier Family 9 (Sodium/Hydrogen Exchanger)2
NHE-32 3     

External Ids:    HGNC: 110731   Entrez Gene: 65502   Ensembl: ENSG000000662307   OMIM: 1823075   UniProtKB: P487643   

Export aliases for SLC9A3 gene to outside databases

Previous GC identifers: GC05M000647 GC05M000513 GC05M000526 GC05M000460


(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 SLC9A3 Gene:
SLC9A3 (solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3) is a protein-coding gene. Diseases associated with SLC9A3 include meconium ileus. GO annotations related to this gene include PDZ domain binding and sodium:hydrogen antiporter activity. An important paralog of this gene is SLC9A6.

UniProtKB/Swiss-Prot: SL9A3_HUMAN, P48764
Function: Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse
environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays
an important role in signal transduction

Gene Wiki entry for SLC9A3 (Sodiumâ€"hydrogen antiporter 3) 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 at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_006576.17  NT_187550.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC9A3 gene promoter:
         AP-2alpha isoform 3   STAT3   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC9A3 promoter sequence
   Search Chromatin IP Primers for SLC9A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC9A3


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

Entrez Gene cytogenetic band: 5p15.3   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15.3

SLC9A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC9A3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M000473:  view genomic region     (about GC identifiers)

Start:
473,334 bp from pter      End:
524,549 bp from pter
Size:
51,216 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: SL9A3_HUMAN, P48764 (See protein sequence)
Recommended Name: Sodium/hydrogen exchanger 3  
Size: 834 amino acids; 92855 Da
Subunit: Binds SLC9A3R1 and SLC9A3R2. Interacts with CHP1, CHP2 and SHANK2. Interacts with PDZK1 (via C-terminal
PDZ domain) (By similarity). Interacts with PDZD3 and interactions decrease in response to elevated calcium ion
levels
Caution: The number, localization and denomination of hydrophobic domains in the Na(+)/H(+) exchangers vary among
authors
Secondary accessions: Q3MIW3

Explore the universe of human proteins at neXtProt for SLC9A3: NX_P48764

Explore proteomics data for SLC9A3 at MOPED

Post-translational modifications: 

  • Phosphorylated by PKA, which inhibits activity (By similarity). Phosphorylation at Ser-663 by SGK1 is associated
    with increased abundance at the cell membrane (By similarity)1
  • Glycosylation2 at Asn241, Asn326
  • Modification sites at PhosphoSitePlus

  • See SLC9A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001271280.1  NP_004165.2  

    ENSEMBL proteins: 
     ENSP00000264938   ENSP00000422983  
    Reactome Protein details: P48764

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
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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/hydrogen exchanger 3
    SLC9 family of sodium/hydrogen exchangers

    4 InterPro protein domains:
     IPR018410 Na/H_exchanger_3/5
     IPR006153 Cation/H_exchanger
     IPR018422 Cation/H_exchanger_CPA1
     IPR004709 NaH_exchanger

    Graphical View of Domain Structure for InterPro Entry P48764

    ProtoNet protein and cluster: P48764

    4 Blocks protein domains:
    IPB001118 Na+/H+ exchanger isoform 3 (NHE3) signature
    IPB001680 G-protein beta WD-40 repeat signature
    IPB004709 Na+/H+ exchanger signature
    IPB006153 Sodium/hydrogen exchanger


    UniProtKB/Swiss-Prot: SL9A3_HUMAN, P48764
    Similarity: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family


    Find genes that share domains with SLC9A3           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: SL9A3_HUMAN, P48764
    Function: Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse
    environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays
    an important role in signal transduction

         Genatlas biochemistry entry for SLC9A3:
    solute carrier protein family 9 (sodium/hydrogen exchange),member 3,involved in intracellular pH regulation and
    cell volume,isoform 3B,apical epithelium,expressed in kidney,gastrointestinal tract (amiloride insensitive)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16159897
    GO:0015299solute:hydrogen antiporter activity ----
    GO:0015385sodium:hydrogen antiporter activity ISS--
    GO:0030165PDZ domain binding ISS--
         
    Find genes that share ontologies with SLC9A3           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc9a3):
     cardiovascular system  digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism  renal/urinary system 
     reproductive system 

    Find genes that share phenotypes with SLC9A3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc9a3tm1Ges for SLC9A3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC9A3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC9A3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC9A3

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    Browse Sino Biological Human cDNA Clones
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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
    SL9A3_HUMAN, P48764: Apical cell membrane; Multi-pass membrane protein. Note=In intestinal epithelial cells,
    localizes to the ileal brush border. Phosphorylation at Ser-663 by SGK1 is associated with increased abundance at
    the cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1
    endosome1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005903brush border ISS--
    GO:0009986cell surface ISS--
    GO:0016021integral component of membrane IEA--
    GO:0016324apical plasma membrane IEA--

    Find genes that share ontologies with SLC9A3           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 SLC9A3 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Sodium/Proton exchangers0.00
    2CREB Pathway
    Intracellular Calcium Signaling0.50
    3TCR Signaling (Qiagen)
    PDGF Pathway0.39
    4ADP signalling through P2Y purinoceptor 12
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.34
    5SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways


    Find genes that share SuperPaths with SLC9A3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SLC9A3
        G12-G13 in Cellular Signaling
    Intracellular Calcium Signaling
    PDGF Pathway

    3 BioSystems Pathways for SLC9A3
        SIDS Susceptibility Pathways
    Endothelins
    RhoA signaling pathway

    1 Reactome Pathway for SLC9A3
        Sodium/Proton exchangers

    1 PharmGKB Pathway for SLC9A3
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics

    4 Kegg Pathways  (Kegg details for SLC9A3):
        Proximal tubule bicarbonate reclamation
    Protein digestion and absorption
    Bile secretion
    Mineral absorption

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC9A3: 
              Circadian Rhythms in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat
              Osmotic Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC9A3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for SLC9A3 (P487641, 2, 3 ENSP000002649384) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAST2Q6P0Q81, 2, 3, ENSP000003546714EBI-7816923,EBI-493777 MINT-1892413 MINT-1892385 I2D: score=2 STRING: ENSP00000354671
    CHP1Q996533, ENSP000003356324I2D: score=2 STRING: ENSP00000335632
    SLC9A3R1O147453, ENSP000002626134I2D: score=2 STRING: ENSP00000262613
    CHP2O437453, ENSP000003001134I2D: score=2 STRING: ENSP00000300113
    LRP2P981643, ENSP000002638164I2D: score=1 STRING: ENSP00000263816
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    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport TAS--
    GO:0006812cation transport ----
    GO:0006814sodium ion transport ----
    GO:0006885regulation of pH IEA--
    GO:0035725sodium ion transmembrane transport ISS--

    Find genes that share ontologies with SLC9A3           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 SLC9A3 (SL9A3)

    1 HMDB Compound for SLC9A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    Selected Novoseek inferred chemical compound relationships for SLC9A3 gene (see all 60)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hoe 694 88.3 5 16564041 (2), 8743940 (1), 9560454 (1), 11698229 (1)
    eipa 84.9 20 7631739 (2), 9421479 (1), 12911544 (1), 14586169 (1) (see all 11)
    sulfosuccinimidyl acetate 79 4 11133512 (1), 15942046 (1)
    glycylsarcosine 73.9 9 16415530 (3), 17182800 (1)
    hoe-642 71.2 3 12911544 (1)
    amiloride 68.9 16 8415663 (2), 8246907 (2), 11408268 (2), 9425602 (1) (see all 9)
    sodium 59.9 41 18785066 (3), 12955677 (2), 16103375 (2), 10966919 (2) (see all 26)
    cariporide 56.7 4 12911544 (1), 19302267 (1)
    bicarbonate 55.7 11 17882150 (1), 11875004 (1), 16715296 (1), 15365806 (1) (see all 8)
    nacl 49.9 13 18785066 (2), 10428871 (1), 16715296 (1), 11181400 (1) (see all 11)



    Find genes that share compounds with SLC9A3           About GenesLikeMe



    (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 SLC9A3 gene (2 alternative transcripts): 
    NM_001284351.1  NM_004174.2  

    Unigene Cluster for SLC9A3:

    Solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
    Hs.658120  [show with all ESTs]
    Unigene Representative Sequence: NM_004174
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264938(uc003jbe.2 uc011clx.1) ENST00000514375 ENST00000507407

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      QuantiTect SYBR Green Assays in human, mouse, rat SLC9A3
      QuantiFast Probe-based Assays in human, mouse, rat SLC9A3

    Additional mRNA sequence: 

    BC011555.1 BC101669.1 BC101671.1 BC143328.1 S83545.1 U28043.1 

    4 DOTS entries:

    DT.106162  DT.95249311  DT.99971018  DT.97822279 

    7 AceView cDNA sequences:

    AA295852 NM_004174 BG333089 BC011555 S83545 U28043 AW963753 

    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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    SLC9A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SLC9A3 Expression
    About this image


    SLC9A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Loop of Henle Cells Loop of Henle
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Colon (Gastrointestinal Tract)
    SLC9A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC9A3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.658120
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC9A3: 
              Circadian Rhythms in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat
              Osmotic Stress in human mouse rat

    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC9A3

    (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 and fungi.

    Orthologs for SLC9A3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc9a31 , 5 solute carrier family 9 (sodium/hydrogen exchanger), more1, 5 84.26(n)1
    91.56(a)1
      13 (40.15 cM)5
    1052431  NM_001081060.11  NP_001074529.11 
     741215155 
    chicken
    (Gallus gallus)
    Aves SLC9A31 solute carrier family 9, subfamily A (NHE3, cation more 71.26(n)
    82.96(a)
      420801  XM_004935075.1  XP_004935132.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC9A36
    solute carrier family 9, subfamily A (NHE3, cation...
    75(a)
    1 ↔ 1
    6(56341685-56400690)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004928701 sodium/hydrogen exchanger 3-like 66.04(n)
    76.95(a)
      100492870  XM_004915318.1  XP_004915375.1 
    zebrafish
    (Danio rerio)
    Actinopterygii slc9a3.11 solute carrier family 9 (sodium/hydrogen exchanger), more 61.55(n)
    56.23(a)
      568258  NM_001113473.1  NP_001106944.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nhx-93 Na(+)/H(+) antiporter 45(a)
    (best of 5)
      IV(11931047-11935802)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NHX16
    Na+/H+ and K+/H+ exchanger, required for intracell...
    22(a)
    1 → many
    IV(1367485-1369386) YDR456W


    ENSEMBL Gene Tree for SLC9A3 (if available)
    TreeFam Gene Tree for SLC9A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC9A3 gene
    SLC9A62  SLC9A82  SLC9A12  SLC9A92  SLC9A52  SLC9A22  SLC9A72  SLC9A42  
    6 SIMAP similar genes for SLC9A3 using alignment to 3 protein entries:     SL9A3_HUMAN (see all proteins):
    Na+/H+ exchanger isoform NHE-3    SLC9A5    SLC9A4    SLC9A2    SLC9A1    SLC9A8

    Find genes that share paralogs with SLC9A3           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for SLC9A3
    PGOHUM00000238486 PGOHUM00000238776 PGOHUM00000238793 PGOHUM00000246416


    (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 SLC9A3 (see all 1505)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1157541241,2
    C,F--481579(+) CTGGAC/TTCAAA 1 -- int12Minor allele frequency- T:0.03WA EA 238
    rs68725101,2
    C,A,H--481610(+) TCTGGC/TTCTTC 1 -- int111Minor allele frequency- T:0.22NA WA CSA EA 373
    rs615542421,2
    C,F--481659(+) CCGCCG/AGGGCC 1 -- int13Minor allele frequency- A:0.00CSA WA EU 1415
    rs2004749841,2
    C--481703(+) TGCCCG/AATCTG 2 /I syn11Minor allele frequency- A:0.00EU 1323
    rs1464336211,2
    C,F--481730(+) ATGGCC/TGAGAG 2 S syn11Minor allele frequency- T:0.00NA 4552
    rs1490282151,2
    C--481776(+) TGAGCA/GTCTCG 1 -- int10--------
    rs2005739591,2
    C--481781(+) GTCTCA/GGGGCG 1 -- int10--------
    rs68598521,2
    C,F,A--481859(+) CACCAC/TGCCCC 1 -- int11Minor allele frequency- T:0.05WA 118
    rs1809348311,2
    --481860(+) ACCACA/GCCCCT 1 -- int10--------
    rs560333401,2
    C--481945(+) CCCCAA/GACCAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for SLC9A3 (473334 - 524549 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC9A3 (see all 69):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1354613CNV Deletion17803354
    esv2729312CNV Deletion23290073
    esv2729313CNV Deletion23290073
    esv2729310CNV Deletion23290073
    nsv821281CNV Deletion20802225
    esv990425CNV Deletion20482838
    esv2729311CNV Deletion23290073
    esv1638372CNV Deletion17803354
    esv1337538CNV Deletion17803354
    esv4866CNV Deletion18987735

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC9A3
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC9A3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 182307    OMIM disorders: --

    1 disease for SLC9A3:    
    About MalaCards
    meconium ileus


    Find genes that share disorders with SLC9A3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SLC9A3 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metabolic acidosis 31 6 12027224 (2), 9261983 (2), 8743473 (1)
    cystic fibrosis 26.7 7 16421216 (2), 17504921 (1), 19447883 (1), 11875260 (1) (see all 6)
    acidosis 25.5 2 15496145 (1), 9690205 (1)
    hypokalemia 20.3 2 10069999 (1), 14752245 (1)
    adenoma 18.9 7 10428871 (1), 16715296 (1), 19447883 (1), 12369822 (1) (see all 6)
    inflammatory bowel diseases 17.5 1 16760259 (1)
    diabetic nephropathies 15.9 1 18238849 (1)
    renal failure 0 1 17487471 (1)
    proteinuria 0 1 12799307 (1)
    colon cancer 0 2 11193592 (1), 8626628 (1)

    Genetic Association Database (GAD): SLC9A3
    Human Genome Epidemiology (HuGE) Navigator: SLC9A3 (9 documents)

    Export disorders for SLC9A3 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 SLC9A3 gene, integrated from 10 sources (see all 283):
    (articles sorted by number of sources associating them with SLC9A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, tissue distribution, and functional analysis of the human Na+/N+ exchanger isoform, NHE3. (PubMed id 7631746)1, 2, 9 Brant S.R.... Tse C.-M. (Am. J. Physiol. 1995)
    2. Physical and genetic mapping of a human apical epithelial Na+/H+ exchanger (NHE3) isoform to chromosome 5p15.3. (PubMed id 8096830)1, 3, 9 Brant S.R....Tse C.M. (Genomics 1993)
    3. Impact of sodium/proton exchanger 3 gene variants on sudden infant death syndrome. (PubMed id 19772970)1, 4, 9 Poetsch M....Bajanowski T. (J. Pediatr. 2010)
    4. Molecular variants of the sodium/hydrogen exchanger type 3 gene and essential hypertension. (PubMed id 15201541)1, 4, 9 Zhu H....MacGregor G.A. (J. Hypertens. 2004)
    5. Genetic susceptibility to febrile seizures: case-control association studies. (PubMed id 19854014)1, 4 Kira R....Hara T. (amp 2010)
    6. Genetic variation in solute carrier genes is associated with preeclampsia. (PubMed id 20691413)1, 4 Morrison A.C....Puschett J.B. (Am. J. Obstet. Gynecol. 2010)
    7. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Elevated intracellular calcium stimulates NHE3 activity by an IKEPP (NHERF4) dependent mechanism. (PubMed id 19088451)1, 2 Zachos N.C.... Donowitz M. (Cell. Physiol. Biochem. 2008)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6550 HGNC: 11073 AceView: SLC9A3 Ensembl:ENSG00000066230 euGenes: HUgn6550
    ECgene: SLC9A3 Kegg: 6550 H-InvDB: SLC9A3

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SLC9A3 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 SLC9A3 gene:
    Search GeneIP for patents involving SLC9A3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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