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

SLC9A3R2 Gene

protein-coding   GIFtS: 59
GCID: GC16P002075

solute carrier family 9, subfamily A (NHE3, cation proton...

(Previous names: solute carrier family 9 (sodium/hydrogen exchanger), isoform...)
 Explore 16 diseases affiliated with
SLC9A3R2 via our new
 Human Malady Compendium 
Biological research products
for SLC9A3R2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3),
Member 3 Regulator 21 2
     Tyrosine Kinase Activator Protein 12 3
NHERF-21 2 3     NHE3 Kinase A Regulatory Protein E3KARP2 3
SIP-11 2 3     SRY-Interacting Protein 12 3
TKA-11 2 3     SIP12 5
NHERF22 3 5     NHE3RF22
E3KARP1 2     OCTS22
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 21 2     Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF22
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory
Factor 21 2
     NHE3 Regulatory Factor 22
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 21 2     Sodium/Hydrogen Exchanger 3 Kinase A Regulatory Protein2
Solute Carrier Family 9 Isoform A3 Regulatory Factor 22 3     Sodium-Hydrogen Exchanger Regulatory Factor 23

External Ids:    HGNC: 110761   Entrez Gene: 93512   Ensembl: ENSG000000650547   OMIM: 6065535   UniProtKB: Q155993   

Export aliases for SLC9A3R2 gene to outside databases

Previous GC identifers: GC16P002094 GC16P002103 GC16P002016 GC16P002076 GC16P002001


(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 SLC9A3R2:
This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular
processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors
and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of
the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel.
Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided by
RefSeq, Nov 2011)

UniProtKB/Swiss-Prot: NHRF2_HUMAN, Q15599
Function: Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and
thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for
cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus

Gene Wiki entry for SLC9A3R2 (Sodium-hydrogen exchange regulatory cofactor 2)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC9A3R2 gene promoter:
         Egr-3   NF-1   STAT3   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC9A3R2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC9A3R2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC9A3R2


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

SLC9A3R2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC9A3R2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P002075:  view genomic region     (about GC identifiers)

Start:
2,075,357 bp from pter      End:
2,089,027 bp from pter
Size:
13,671 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NHRF2_HUMAN, Q15599 (See protein sequence)
Recommended Name: Na(+)/H(+) exchange regulatory cofactor NHE-RF2  
Size: 337 amino acids; 37414 Da
Subunit: Homodimer, and heterodimer with SLC9A3R1. Binds PDZK1. Found in a complex with EZR, PODXL and SLC9A3R2 (By
similarity). Interacts (via the PDZ domains) with PODXL (via the C-terminal PDZ-binding motif DTHL); interaction is
detected in glomerular epithelium cells (By similarity). Binds ADRB2, SLC9A3, P2RY1, P2YR2, SRY, RDX and LPAR2.
Interacts with MCC and PODXL. Interacts with SGK1 and KCNJ1/ROMK1
Subcellular location: Endomembrane system; Peripheral membrane protein. Nucleus. Apical cell membrane (By similarity).
Note=Localizes with EZR and PODXL at the apical cell membrane of glomerular epithelium cells and the sides of the food
processes (By similarity). Nuclear, in a punctate pattern
Sequence caution: Sequence=AAH14513.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAA90511.1; Type=Frameshift; Positions=309;
3 PDB 3D structures from and Proteopedia for SLC9A3R2:
2D11 (3D)        2HE4 (3D)        2OCS (3D)    
Secondary accessions: D3DU84 O00272 O00556 Q3KQY7
Alternative splicing: 2 isoforms:  Q15599-1   Q15599-2   

Explore the universe of human proteins at neXtProt for SLC9A3R2: NX_Q15599

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15599

  • SLC9A3R2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001123484.1  NP_001239002.1  NP_001239004.1  NP_001239005.1  NP_004776.3  

    ENSEMBL proteins: 
     ENSP00000454361   ENSP00000408005   ENSP00000402857   ENSP00000456610   ENSP00000455909  
     ENSP00000457755   ENSP00000454690   ENSP00000456895  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IDA--
    GO:0012505endomembrane system IEA--
    GO:0016324apical plasma membrane IEA--


    SLC9A3R2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SLC9A3R2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001478 PDZ
     IPR015098 EBP50_C-term
     IPR017300 NaH_exchngr_reg_CF_NHE-RF

    Graphical View of Domain Structure for InterPro Entry Q15599

    ProtoNet protein and cluster: Q15599

    UniProtKB/Swiss-Prot: NHRF2_HUMAN, Q15599
    Similarity: Contains 2 PDZ (DHR) domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: NHRF2_HUMAN, Q15599
    Function: Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and
    thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for
    cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus

    miRNA
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    hsa-miR-3678-3p hsa-miR-137 hsa-miR-25 hsa-miR-181a-2* hsa-miR-520a-5p hsa-miR-761 hsa-miR-92b hsa-miR-92a
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI16456542
    GO:0005515protein binding IPI15523054
    GO:0008013beta-catenin binding IPI17242191
    GO:0008022protein C-terminus binding IPI11786550
    GO:0016247channel regulator activity ----


    SLC9A3R2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC9A3R2:
     Decreased nuclei size in G2M 

    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Slc9a3r2):
     homeostasis/metabolism 

    SLC9A3R2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
    wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)1.00
    Regulation of CFTR activity (norm and CF)0.38
    2Neuroscience
    Neuroscience1.00
    3Glucose / Energy Metabolism
    Glucose / Energy Metabolism1.00
    4PDGFR-beta signaling pathway
    PDGFR-beta signaling pathway1.00
    5LPA receptor mediated events
    LPA receptor mediated events1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for SLC9A3R2
        Neuroscience
    Glucose / Energy Metabolism

    3 GeneGo (Thomson Reuters) Pathways for SLC9A3R2
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Regulation of CFTR activity (norm and CF)
    wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

    2 BioSystems Pathways for SLC9A3R2 
        PDGFR-beta signaling pathway
    LPA receptor mediated events

    1 PharmGKB Pathway for SLC9A3R2
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for SLC9A3R2):
        Aldosterone-regulated sodium reabsorption


    SLC9A3R2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC9A3R2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/55 Interacting proteins for SLC9A3R2 (Q155991, 2, 3 ENSP000004080054) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135691, 2, 3, ENSP000000030844EBI-1149760,EBI-349854 MINT-1787274 MINT-1787368 MINT-1787402 I2D: score=6 STRING: ENSP00000003084
    PTENP604842, 3, ENSP000003610214MINT-2832573 MINT-2832684 MINT-2832646 MINT-2832774 MINT-2832546 I2D: score=3 STRING: ENSP00000361021
    SLC26A3P408792, 3, ENSP000003458734MINT-1787249 MINT-1787327 MINT-1787222 MINT-1792121 MINT-1787290 I2D: score=2 STRING: ENSP00000345873
    SRYQ050662, 3, ENSP000003725474MINT-68607 MINT-68601 MINT-60076 I2D: score=2 STRING: ENSP00000372547
    SIAH1Q8IUQ42, 3, ENSP000003491564MINT-14500 MINT-14499 I2D: score=3 STRING: ENSP00000349156
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS9748260
    GO:0014067negative regulation of phosphatidylinositol 3-kinase cascade IEA--
    GO:0045838positive regulation of membrane potential ----
    GO:0048839inner ear development ----


    SLC9A3R2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC9A3R2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC9A3R2

    1 HMDB Compound for SLC9A3R2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    10 Novoseek chemical compound relationships for SLC9A3R2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cariporide 81.7 3 11120691 (1), 12691375 (1), 10482177 (1)
    eipa 54.5 1 11122185 (1)
    amiloride 45.1 2 15010500 (1), 11937337 (1)
    bcecf 39.7 1 11494089 (1)
    sodium 30.4 2 16775092 (1)
    calcium 26.9 11 19017653 (2), 15319523 (2), 15665527 (2), 12954600 (1) (see all 6)
    bicarbonate 21.3 1 12369822 (1)
    nitric oxide 0 1 12780384 (1)
    lipid 0 1 8889271 (1)
    tyrosine 0 2 15115658 (1), 9032395 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC9A3R2 / NHRF2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC9A3R2 gene (5 alternative transcripts): 
    NM_001130012.2  NM_001252073.1  NM_001252075.1  NM_001252076.1  NM_004785.5  

    Unigene Cluster for SLC9A3R2:

    Solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2
    Hs.440896  [show with all ESTs]
    Unigene Representative Sequence: NM_001130012
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000567504 ENST00000424542(uc002coj.3 uc002coi.3 uc021tan.1 uc002cok.3 uc021tao.1)
    ENST00000432365 ENST00000567191 ENST00000563587 ENST00000561844 ENST00000565086
    ENST00000565855 ENST00000566198 ENST00000564033

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    Additional cDNA sequence: 

    AF004900.1 AF035771.1 BC014513.1 BC069014.1 BC106001.1 U82108.1 Z50150.1 

    16 DOTS entries:

    DT.453793  DT.97854562  DT.100766440  DT.120665846  DT.92423735  DT.75151485  DT.95277712  DT.120665851 
    DT.87015433  DT.97854563  DT.40303697  DT.92412961  DT.92423736  DT.95359164  DT.97776124  DT.443152 

    24/176 AceView cDNA sequences (see all 176):

    AA340577 BC069014 BM771287 BQ672955 BM770074 BM771328 BM770118 BM790423 
    BM770716 BM749687 BM760848 BM771873 BU164117 BM755529 BM771384 BM747412 
    AW954779 BM770198 AF035771 BM751875 BM913340 BM771230 BM739020 BM771449 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A3R2 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for SLC9A3R2

    (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

    SLC9A3R2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTCCACTTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SLC9A3R2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC9A3R2

    SOURCE GeneReport for Unigene cluster: Hs.440896

    UniProtKB/Swiss-Prot: NHRF2_HUMAN, Q15599
    Tissue specificity: Widely expressed

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC9A3R2 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc9a3r21 , 5 solute carrier family 9 (sodium/hydrogen exchanger), more1, 5 87.64(n)1
    91.69(a)1
      17 (12.43 cM)5
    659621  NM_023055.21  NP_075542.21 
     246392825 
    chicken
    (Gallus gallus)
    Aves SLC9A3R21 solute carrier family 9 (sodium/hydrogen exchanger), more 72.06(n)
    71.26(a)
      416550  XM_414851.3  XP_414851.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684512 hypothetical protein MGC68451 75.5(n)    BC063721.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005351001 Na(+)/H(+) exchange regulatory cofactor NHE-RF2-like 63.26(n)
    65.81(a)
      100535100  XM_003198073.1  XP_003198121.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sip16
    SRY interacting protein 1
    5(a)
    1 → many
    2R(13282101-13292678)


    ENSEMBL Gene Tree for SLC9A3R2 (if available)
    TreeFam Gene Tree for SLC9A3R2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC9A3R2 gene
    SLC9A3R12  PDZD32  PDZK12  
    5 SIMAP similar genes for SLC9A3R2 using alignment to 9 protein entries:     NHRF2_HUMAN (see all proteins):
    SLC9A3R1    ARHGAP23    PDZK1P1    PDZK1P2    PDZD3

    SLC9A3R2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/282 NCBI SNPs in SLC9A3R2 are shown (see all 282    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs763821431,2
    C,--2074955(+) CTGCTC/-CCGGC 2 -- us2k11Minor allele frequency- -:0.00CSA 2
    rs608009971,2
    C--2074957(+) GCTCCC/-GGCCC 2 -- us2k11Minor allele frequency- -:0.00NA 2
    rs123860031,2
    C,A,--2074965(+) gccCCC/TCAGCC 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1906736121,2
    --2075161(+) GAAGCC/TACAGC 2 -- us2k10--------
    rs1455679421,2
    --2075170(+) GCCTGC/TCAGGT 2 -- us2k10--------
    rs116429981,2
    H--2075332(+) GCCAGA/TCAGGC 2 -- us2k10--------
    rs734960861,2
    C,--2075598(+) GACTGC/TGCCAA 2 -- us2k12Minor allele frequency- T:0.13WA 120
    rs713857291,2
    C,F,--2075783(+) AGCATG/AGACTC 2 -- us2k13Minor allele frequency- A:0.04NA 124
    rs1828492471,2
    --2075794(+) CGAATC/TTCACA 2 -- us2k10--------
    rs1873499691,2
    --2075795(+) GAATCA/TCACAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC9A3R2 (2075357 - 2089027 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for SLC9A3R2
         4 CNVs: 30000 53306 5329 30001

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    (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

    SLC9A3R2 for disorders           About GeneDecksing

    OMIM gene information: 606553    OMIM disorders: --

    16 diseases for SLC9A3R2:    About MalaCards
    cystic fibrosis    fibrosis    secretory diarrhea    myocardial stunning
    myocardial infarction    essential hypertension    diarrhea    malignant glioma
    ischemia    aldosteronism    cholera    hypertension
    seizures    colon cancer    adenoma    neuronitis

    9 Novoseek disease relationships for SLC9A3R2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acidosis 51.3 2 9659815 (1)
    cystic fibrosis 45.6 2 10893422 (1), 12387817 (1)
    myocardial ischemia 28.9 1 12691374 (1)
    ischemia 26 4 12691375 (1), 12942154 (1), 9659815 (1), 10482177 (1)
    heart failure 11.2 1 12942154 (1)
    hypertrophy 2.26 2 12942154 (1), 17339567 (1)
    myocardial infarction 0 2 11120691 (1), 12691375 (1)
    necrosis 0 4 12691375 (1), 10482177 (1)
    inflammation 0 1 10554680 (1)


    Export disorders for SLC9A3R2 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 SLC9A3R2 gene, integrated from 9 sources (see all 156):
    (articles sorted by number of sources associating them with SLC9A3R2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A C-terminal motif found in the beta2-adrenergic receptor, P2Y1 receptor and cystic fibrosis transmembrane conductance regulator determines binding to the Na+/H+ exchanger regulatory factor family of PDZ proteins. (PubMed id 9671706)1, 2, 3, 9 Hall R.A....Lefkowitz R.J. (1998)
    2. The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains. (PubMed id 9054412)1, 2, 3 Poulat F.... Berta P. (1997)
    3. cAMP-induced phosphorylation and inhibition of Na(+)/H(+) exchanger 3 (NHE3) are dependent on the presence but not the phosphorylation of NHE regulatory factor. (PubMed id 10455146)1, 2, 9 Zizak M.... Weinman E.J. (1999)
    4. cAMP-mediated inhibition of the epithelial brush border Na+/H+ exchanger, NHE3, requires an associated regulatory protein. (PubMed id 9096337)1, 2, 9 Yun C.H.C.... Donowitz M. (1997)
    5. Molecular requirements for the regulation of the renal outer medullary K(+) channel ROMK1 by the serum- and glucocorticoid-inducible kinase SGK1. (PubMed id 14623317)1, 2, 9 Palmada M....Lang F. (2003)
    6. Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes. (PubMed id 9831664)1, 2, 9 Imai K.... Seki S. (1998)
    7. MCC, a new interacting protein for Scrib, is required for cell migration in epithelial cells. (PubMed id 19555689)1, 2 Arnaud C....Lecine P. (2009)
    8. Structural basis for NHERF recognition by ERM proteins. (PubMed id 16615918)1, 2 Terawaki S.... Hakoshima T. (2006)
    9. Gp135/podocalyxin and NHERF-2 participate in the formation of a preapical domain during polarization of MDCK cells. (PubMed id 15642748)1, 2 Meder D....Fullekrug J. (2005)
    10. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 9351 HGNC: 11076 AceView: SLC9A3R2 Ensembl:ENSG00000065054 euGenes: HUgn9351
    ECgene: SLC9A3R2 Kegg: 9351 H-InvDB: SLC9A3R2

    (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 SLC9A3R2 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 SLC9A3R2 gene:
    Search GeneIP for patents involving SLC9A3R2

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



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