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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...)
  14 related diseases
at
MalaCards
 

Aliases
for SLC9A3R2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
Solute Carrier Family 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


Summaries
for SLC9A3R2 gene

(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 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 cystic fibrosis, and among its related super-pathways are Regulation of CFTR activity (norm and CF) and Clathrin-dependent protein traffic. 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


Genomic Views
for SLC9A3R2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
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 plasmid: SLC9A3R2 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

Proteins
for SLC9A3R2 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: 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 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:

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

    • SLC9A3R2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC9A3R2 Protein Expression
    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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    Browse Proteins at Cloud-Clone Corp. 

    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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    Protein Domains /
    Families
    for SLC9A3R2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 3 InterPro protein domains:
     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


    SLC9A3R2 for domains           About GeneDecksing


    Function
    for SLC9A3R2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC9A3R2 
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    miRNA
    Products:            		miRTarBase miRNAs that target SLC9A3R2:
    hsa-mir-30a (MIRT005146)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC9A3R2
    8/19 QIAGEN miScript miRNA 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 plasmid: SLC9A3R2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Pathways & Interactions
    for SLC9A3R2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

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

    SuperPathContained pathways About
    1wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
    		wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)0.38
    		Regulation of CFTR activity (norm and CF)0.38
    2Clathrin-dependent protein traffic
    		wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    3Ca-dependent events
    		Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.35
    4Neuroscience
    		Neuroscience
    5LPA receptor mediated events
    		LPA receptor mediated events

    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
        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)

    5/57 Interacting proteins for SLC9A3R2 (Q155991, 2, 3 ENSP000004080054) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    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): 2 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--

    SLC9A3R2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC9A3R2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, 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 (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)

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

    Transcripts
    for SLC9A3R2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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
    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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    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 

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

    AW954779 BM747412 BM771164 BM770703 BM771285 AF035771 BM771363 BQ687174 
    CD514565 CR617760 BM740110 BM770163 BM751875 BC014513 F18486 BQ672955 
    BM760110 BM913340 AA340577 BM770118 CR593583 BM771209 BM771384 BM770699 

    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

    Expression
    for SLC9A3R2 gene

    (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)      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 
     5/18 selected tissues (see all 18) fully expand
     
     Reproductive System (Reproductive System)    fully expand to see all 4 entries
             uterus, post-menopause ; glandular cells
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             liver ; bile duct cells
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             seminal vesicle ; glandular cells
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Lung (Respiratory System)
             bronchus ; respiratory epithelial cells

    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
    for SLC9A3R2 gene

    (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 5/12 species (see all 12)    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
    		 26(a)
    		 1 → many
    		 2R(13282101-13292678)


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

    Paralogs
    for SLC9A3R2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for SLC9A3R2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/427 SNPs in SLC9A3R2 are shown (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) 10/27 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

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    Disorders / Diseases
    for SLC9A3R2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC9A3R2 for disorders           About GeneDecksing

    OMIM gene information: 606553    OMIM disorders: --

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

    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

    Publications
    for SLC9A3R2 gene

    (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 160):
    (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)

    External Searches for SLC9A3R2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SLC9A3R2 gene

    (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

    Other Databases showing SLC9A3R2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC9A3R2 gene

    (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

    Intellectual Property
    for SLC9A3R2 gene

    (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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    About This Section

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