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SLC9A3R2 Gene

protein-coding   GIFtS: 58
GCID: GC16P002075

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

(Previous names: solute carrier family 9 (sodium/hydrogen exchanger), isoform...)
  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 9, Subfamily A (NHE3, Cation Proton Antiporter
3), Member 3 Regulator 21 2
     NHE3 Kinase A Regulatory Protein E3KARP2 3
NHERF22 3 5     SRY-Interacting Protein 12 3
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 21 2     SIP12 5
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory
Factor 21 2
     E3KARP2
Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 21 2     NHE3RF22
Solute Carrier Family 9 Isoform A3 Regulatory Factor 22 3     OCTS22
Tyrosine Kinase Activator Protein 12 3     Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF22
NHERF-22 3     NHE3 Regulatory Factor 22
SIP-12 3     Sodium/Hydrogen Exchanger 3 Kinase A Regulatory Protein2
TKA-12 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC9A3R2 Gene:
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)

GeneCards Summary for SLC9A3R2 Gene:
SLC9A3R2 (solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2) is a protein-coding gene. Diseases associated with SLC9A3R2 include secretory diarrhea, and myocardial stunning. GO annotations related to this gene include beta-catenin binding and receptor binding. An important paralog of this gene is SLC9A3R1.

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) 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_000016.10  NT_010393.17  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for SLC9A3R2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, and/or Cloud-Clone Corp.)
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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. Interacts (via the PDZ domains)
with SLC26A6 isoform 4 and isoform 5
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 D3DU85 H3BSV6 O00272 O00556 Q3KQY7
Alternative splicing: 3 isoforms:  Q15599-1   Q15599-2   Q15599-3   (No experimental confirmation available)

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

Explore proteomics data for SLC9A3R2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLC9A3R2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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   ENSP00000455909   ENSP00000457755  
     ENSP00000454690   ENSP00000456895  

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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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    3 InterPro protein domains:
     IPR015098 EBP50_C-term
     IPR001478 PDZ
     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


    SLC9A3R2 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: 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 Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI16456542
    GO:0005515protein binding IPI11285285
    GO:0008013beta-catenin binding IPI17242191
    GO:0008022protein C-terminus binding IPI11786550
    GO:0019902phosphatase binding IPI16456542
         
    SLC9A3R2 for ontologies           About GeneDecksing


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

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

    SLC9A3R2 for phenotypes           About GeneDecksing

    Animal Models:
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    miRTarBase miRNAs that target SLC9A3R2:
    hsa-mir-30a-5p (MIRT005146), hsa-mir-125b-5p (MIRT045974), hsa-mir-155-5p (MIRT020575)

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    Selected qRT-PCR Assays for microRNAs that regulate SLC9A3R2 (see all 19):
    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
    SwitchGear 3'UTR luciferase reporter plasmidSLC9A3R2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC9A3R2


    (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
    NHRF2_HUMAN, Q15599: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytoskeleton2
    cytosol2
    endosome1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    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


    (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 SLC9A3R2 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38
    wtCFTR and deltaF508 traffic Membrane expression norm and CF 0.38
    2Clathrin dependent protein traffic
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    3ADP signalling through P2Y purinoceptor 12
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.34
    4PDGFR-beta signaling pathway
    PDGFR-beta signaling pathway
    5Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    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
        LPA receptor mediated events
    PDGFR-beta signaling pathway

    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC9A3R2
    Interactions:

        GeneGlobe Interaction Network for SLC9A3R2

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

    Selected Interacting proteins for SLC9A3R2 (Q155991, 2, 3 ENSP000004080054) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTENP604841, 2, 3, ENSP000003610214EBI-1149760,EBI-696162 MINT-2832573 MINT-2832684 MINT-2832646 MINT-2832774 MINT-2832546 I2D: score=3 STRING: ENSP00000361021
    SLC26A3P408791, 2, 3, ENSP000003458734EBI-1149760,EBI-8542350 MINT-1787249 MINT-1787327 MINT-1787222 MINT-1792121 MINT-1787290 I2D: score=2 STRING: ENSP00000345873
    CFTRP135691, 2, 3, ENSP000000030844EBI-1149760,EBI-349854 MINT-1787274 MINT-1787368 MINT-1787402 I2D: score=6 STRING: ENSP00000003084
    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): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS9748260
    GO:0014067negative regulation of phosphatidylinositol 3-kinase signaling IEA--

    SLC9A3R2 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 SLC9A3R2 (NHRF2)

    1 HMDB Compound for SLC9A3R2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    10 Novoseek inferred 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)



    SLC9A3R2 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,
    Conferences by KenesGroup, 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 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
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000567504 ENST00000424542(uc002coj.3 uc002coi.3 uc021tan.1 uc002cok.3 uc021tao.1)
    ENST00000432365 ENST00000563587 ENST00000561844 ENST00000565086 ENST00000565855
    ENST00000566198 ENST00000564033
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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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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 176):

    AA340577 BM745685 BM770703 BI833510 BM771285 BQ672955 BM747491 BM913340 
    BM771240 BM771004 BM771873 BM770118 BM771230 BM739020 BC014513 BM771199 
    BM771449 BM749687 F18486 BU196827 AA886424 CR593583 BM770074 BC069014 

    GeneLoc Exon Structure

    Selected 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™, 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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    SLC9A3R2 expression in normal human tissues (normalized intensities)      SLC9A3R2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCCACTTA
    SLC9A3R2 Expression
    About this image


    SLC9A3R2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Heart (Cardiovascular System)
             Cushion Mesenchymal Cells Endocardium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Ovary (Reproductive System)
             Oviduct
    SLC9A3R2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC9A3R2 Protein Expression

    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC9A3R2 gene from Selected species (see all 14)    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, subfamily A (NHE3, cation more 72.06(n)
    71.26(a)
      416550  XM_414851.4  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 61.99(n)
    62.8(a)
      100535100  XM_003198073.2  XP_003198121.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sip16
    SRY interacting protein 1
    30(a)
    1 → many
    2R(13282101-13292678)
    worm
    (Caenorhabditis elegans)
    Secernentea mpz-21 mpz-2 43.27(n)
    39.42(a)
      13197264  NM_001047445.4  NP_001040910.1 


    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)
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    Paralogs for SLC9A3R2 gene
    SLC9A3R12  PDZK12  PDZD32  
    5 SIMAP similar genes for SLC9A3R2 using alignment to 6 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, 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 SLC9A3R2 (see all 427)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs608009971,2
    C--2074956(+) GCTCCC/-GGCCC 2 -- us2k12Minor allele frequency- -:0.00NA CSA 4
    rs123860031,2
    C,A--2074965(+) gccCCC/TCAGCC 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1906736121,2
    --2075161(+) GAAGCC/TACAGC 2 -- us2k10--------
    rs1455679421,2
    C--2075170(+) GCCTGC/TCAGGT 2 -- us2k10--------
    rs116429981,2
    H--2075332(+) GCCAGA/TCAGGC 2 -- us2k10--------
    rs734960861,2
    C,F--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--------
    rs745741441,2
    F--2075829(+) GAGGCT/CTCGTG 2 -- us2k11Minor allele frequency- C:0.03EA 120

    HapMap Linkage Disequilibrium report for SLC9A3R2 (2075357 - 2089027 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLC9A3R2 (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2750375CNV Deletion23290073
    esv2422427CNV Duplication17116639
    dgv336n27CNV Loss19166990
    dgv2545n71CNV Loss21882294
    dgv2546n71CNV Loss21882294
    nsv905048CNV Loss21882294
    nsv905101CNV Loss21882294
    dgv2540n71CNV Loss21882294
    nsv905102CNV Loss21882294
    nsv523037CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 606553    OMIM disorders: --

    17 diseases for SLC9A3R2:    About MalaCards
    secretory diarrhea    myocardial stunning    diarrhea    cystic fibrosis
    ischemia    essential hypertension    malignant glioma    cholera
    myocardial infarction    hypertension    adenoma    squamous cell carcinoma
    endotheliitis    neuronitis    cerebritis    thyroiditis
    prostatitis


    SLC9A3R2 for disorders           About GeneDecksing

    9 Novoseek inferred 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)
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    PubMed articles for SLC9A3R2 gene, integrated from 10 sources (see all 164):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 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. (J. Biol. Chem. 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. (J. Biol. Chem. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Biochem. Biophys. Res. Commun. 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. (Gene 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. (FEBS Lett. 2009)
    8. Structural basis for NHERF recognition by ERM proteins. (PubMed id 16615918)1, 2 Terawaki S.... Hakoshima T. (Structure 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.... Fuellekrug J. (J. Cell Biol. 2005)
    10. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (Nature 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: 9351 HGNC: 11076 AceView: SLC9A3R2 Ensembl:ENSG00000065054 euGenes: HUgn9351
    ECgene: SLC9A3R2 Kegg: 9351 H-InvDB: SLC9A3R2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SLC9A3R2 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 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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