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

RDX Gene

protein-coding   GIFtS: 68
GCID: GC11M110045

Radixin

(Previous names: deafness, autosomal recessive 24)
(Previous symbol: DFNB24)
Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
radixin1 2
DFNB241 2 5
Deafness, Autosomal Recessive 241

External Ids:    HGNC: 99441   Entrez Gene: 59622   Ensembl: ENSG000001377107   OMIM: 1794105   UniProtKB: P352413   

Export aliases for RDX gene to outside databases

Previous GC identifers: GC11M112371 GC11M111571 GC11M110134 GC11M109637 GC11M109605 GC11M106024


(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 RDX Gene:
Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly
similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ
hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another
pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple
alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, May 2012)

GeneCards Summary for RDX Gene: 
RDX (radixin) is a protein-coding gene. Diseases associated with RDX include dfnb24 nonsyndromic hearing loss and deafness, and deafness, autosomal recessive, 24, and among its related super-pathways are Regulation of actin cytoskeleton and Axon guidance. GO annotations related to this gene include protein binding and actin binding. An important paralog of this gene is MSN.

UniProtKB/Swiss-Prot: RADI_HUMAN, P35241
Function: Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane

Gene Wiki entry for RDX (Radixin) 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_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RDX gene promoter:
         ISGF-3   Sox5   POU3F2 (N-Oct-5b)   C/EBPalpha   IRF-2   POU2F1   POU2F1b   POU2F1a   Sox9   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRDX promoter sequence
   Search SABiosciences Chromatin IP Primers for RDX

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


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

Entrez Gene cytogenetic band: 11q23   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q23

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M110045:  view genomic region     (about GC identifiers)

Start:
110,045,605 bp from pter      End:
110,167,447 bp from pter
Size:
121,843 bases      Orientation:
minus strand

(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: RADI_HUMAN, P35241 (See protein sequence)
Recommended Name: Radixin  
Size: 583 amino acids; 68564 Da
Subunit: Binds SLC9A3R1. Interacts with NHERF1, NHERF2, LAYN, MME/NEP and ICAM2 (By similarity)
Subcellular location: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton.
Cleavage furrow. Note=Highly concentrated in the undercoat of the cell-to-cell adherens junction and the cleavage
furrow in the interphase and mitotic phase, respectively
Secondary accessions: A7YIJ8 A7YIK0 A7YIK3 B7Z9U6 F5H1A7 Q86Y61
Alternative splicing: 5 isoforms:  P35241-1   P35241-2   P35241-3   P35241-4   P35241-5   

Explore the universe of human proteins at neXtProt for RDX: NX_P35241

Explore proteomics data for RDX at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by tyrosine-protein kinases. Phosphorylation by ROCK2 suppresses the head-to-tail association of
    the N-terminal and C-terminal halves resulting in an opened conformation which is capable of actin and
    membrane-binding (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35241

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

    RDX Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001247421.1  NP_001247422.1  NP_001247423.1  NP_001247424.1  NP_001247425.1  NP_002897.1  

    ENSEMBL proteins: 
     ENSP00000437301   ENSP00000432112   ENSP00000384136   ENSP00000433580   ENSP00000436277  
     ENSP00000342830   ENSP00000432829   ENSP00000434788   ENSP00000431560   ENSP00000437140  
     ENSP00000434881   ENSP00000432572   ENSP00000435930   ENSP00000445826  
    Reactome Protein details: P35241
    Human Recombinant Protein Products for RDX: 
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    Novus Biologicals RDX Protein
    Novus Biologicals RDX Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RDX 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IEA--
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IDA--
    GO:0005902microvillus ----

    RDX for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for RDX


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/13 InterPro protein domains (see all 13):
     IPR019748 FERM_central
     IPR019750 Band_41_fam
     IPR000798 Ez/rad/moesin_like
     IPR008954 Moesin
     IPR019747 FERM_CS

    Graphical View of Domain Structure for InterPro Entry P35241

    ProtoNet protein and cluster: P35241

    2 Blocks protein domains:
    IPB000299 Band 4.1 domain
    IPB000798 ERM family signature


    UniProtKB/Swiss-Prot: RADI_HUMAN, P35241
    Domain: The N-terminal domain interacts with the C-terminal domain of LAYN. An interdomain interaction between its
    N-terminal and C-terminal domains inhibits its ablilty to bind LAYN. In the presence of acidic phospholipids, the
    interdomain interaction is inhibited and this enhances binding to LAYN (By similarity)
    Similarity: Contains 1 FERM domain


    RDX 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, 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: RADI_HUMAN, P35241
    Function: Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane
    Enzyme regulation: A head-to-tail association, of the N-terminal and C-terminal halves results in a closed
    conformation (inactive form) which is incapable of actin or membrane-binding (By similarity)

         Genatlas biochemistry entry for RDX:
    radixin,actin capping protein,ezrin/moesin/radixin-like (ERM) family member,responding and participating in
    reorganization of membrane-cytoplasmic interactions,highly expressed in the undercoat of the adherens
    junction,involved in regulation of linkage of the cytoskeleton to the plasma membrane,deleted in
    lymphocytes,monocytes,neutrophils and platelet,not sensitive to capain

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI10806479
    GO:0008092cytoskeletal protein binding ----
         
    RDX for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RDX:
     Decreased viability after Chla  Increased S DNA content 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rdx):
     behavior/neurological  hearing/vestibular/ear  homeostasis/metabolism  liver/biliary system  nervous system 

    RDX for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RDX 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RDX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RDX 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RDX 

    miRNA
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    miRTarBase miRNAs that target RDX:
    hsa-mir-31 (MIRT004979)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RDX
    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate RDX (see all 36):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-let-7d hsa-miR-346 hsa-miR-500a hsa-let-7g hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidRDX 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RDX


    (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 RDX About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    2Axon guidance
    Axon guidance0.69
    L1CAM interactions0.39
    Developmental Biology0.69
    Recycling pathway of L10.38
    3Rho Family GTPases
    Rho Family GTPases0.61
    4G-protein signaling Rac2 regulation pathway
    G-protein signaling Rac2 regulation pathway1.00
    5Integrin Pathway
    Transendothelial Migration of Leukocytes0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for RDX
        G-protein signaling Rac2 regulation pathway

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RDX
        RhoA Pathway
    Rho Family GTPases
    Transendothelial Migration of Leukocytes

    1 Cell Signaling Technology (CST) Pathway for RDX
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for RDX
        G-protein signaling Rac2 regulation pathway

    2 BioSystems Pathways for RDX
        Regulation of Actin Cytoskeleton
    RhoA signaling pathway

    4        Reactome Pathways for RDX
        L1CAM interactions
    Recycling pathway of L1
    Developmental Biology
    Axon guidance


    3         Kegg Pathways  (Kegg details for RDX):
        Regulation of actin cytoskeleton
    Proteoglycans in cancer
    MicroRNAs in cancer


    RDX for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RDX

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

    5/47 Interacting proteins for RDX (P352412, 3 ENSP000003428304) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGB2P051072, 3, ENSP000003032424MINT-4652127 MINT-4652107 I2D: score=2 STRING: ENSP00000303242
    ARHGDIAP525652, 3, ENSP000002693214MINT-18849 MINT-18848 I2D: score=4 STRING: ENSP00000269321
    MCF2P109112, 3, ENSP000003970554MINT-17859 MINT-17858 I2D: score=1 STRING: ENSP00000397055
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    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:0007010cytoskeleton organization ----
    GO:0030033microvillus assembly IEA--
    GO:0045176apical protein localization IEA--
    GO:0051693actin filament capping IEA--

    RDX for ontologies           About GeneDecksing



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

    RDX for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RDX (RADI)

    1 DrugBank Compound for RDX    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    D-Myo-Inositol-1,4,5-Triphosphate-- --target--17139284 17016423 10592235

    10/12 Novoseek inferred chemical compound relationships for RDX gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 44.6 7 11387207 (1), 11502006 (1), 9918767 (1), 16394012 (1) (see all 7)
    tyrosine 38.3 13 11587846 (1), 15277531 (1), 17024180 (1), 1382070 (1) (see all 12)
    gdp 20.9 3 9681826 (2), 9287351 (1)
    phosphatidylinositol 18.5 2 16054017 (1), 17827228 (1)
    hyaluronic acid 16.8 1 15326184 (1)
    phosphotyrosine 14.9 2 1382070 (1), 12535520 (1)
    calcium 3.06 1 18290763 (1)
    gtp 0 2 9681826 (2)
    lipid 0 1 17982024 (1), 17538024 (1)
    zinc 0 1 14550572 (1)

    Search CenterWatch for drugs/clinical trials and news about RDX / RADI

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RDX gene (6 alternative transcripts): 
    NM_001260492.1  NM_001260493.1  NM_001260494.1  NM_001260495.1  NM_001260496.1  NM_002906.3  

    Unigene Cluster for RDX:

    Radixin
    Hs.263671  [show with all ESTs]
    Unigene Representative Sequence: NM_002906
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000530749(uc009yxx.1) ENST00000528498 ENST00000405097(uc009yxy.3)
    ENST00000528900(uc009yxz.3) ENST00000530301(uc009yya.3) ENST00000527537(uc001pks.3)
    ENST00000532461(uc001pkt.3) ENST00000343115(uc001pku.3 uc010rwe.2)
    ENST00000533961 ENST00000530131 ENST00000530085 ENST00000529774 ENST00000534683
    ENST00000532118 ENST00000528556 ENST00000533991 ENST00000533678 ENST00000544551

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate RDX (see all 36):
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    Additional mRNA sequence: 

    AF086024.1 AK295075.1 AK312903.1 AK316061.1 BC002626.2 BC020751.1 BC029467.1 BC047109.1 
    BX648536.1 DQ916738.1 DQ916739.1 DQ916740.1 DQ916742.1 L02320.1 

    17 DOTS entries:

    DT.97803338  DT.101974122  DT.215749  DT.101981317  DT.100825101  DT.100825093  DT.95158114  DT.97788679 
    DT.100825095  DT.100825096  DT.101955213  DT.215863  DT.92457353  DT.95132655  DT.99962028  DT.100825097 
    DT.91721350 

    24/308 AceView cDNA sequences (see all 308):

    BC029467 BM663343 AI351747 BE350211 BG565821 CB143914 BM669870 AI365124 
    BU078898 CK430198 BX501284 BM699208 CK724983 AF086024 BU627413 BU734583 
    AI962841 BF592841 AA479781 AW614136 AI609818 AI804721 AA281544 CB106578 

    GeneLoc Exon Structure

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

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^
    SP1:                                      -     -                                                                                                               
    SP2:                                                                                                                                                            
    SP3:                                      -                                                                                                                     
    SP4:                                                                                                                          -     -                           
    SP5:        -     -     -     -           -     -                                                                                                               

    ExUns: 18 ^ 19
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for RDX

    (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

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


    RDX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Neural Ectoderm (Nervous System)    fully expand to see all 2 entries
             Spinal Neural Plate Cells Neural Plate
             Neural Plate
     
     Limb (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Cartilage (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod

    See RDX Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RDX

    SOURCE GeneReport for Unigene cluster: Hs.263671
        SABiosciences Expression via Pathway-Focused PCR Arrays including RDX: 
              Cytoskeleton Regulators in human mouse rat
              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cell Motility in human mouse rat

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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 RDX gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rdx1 , 5 radixin1, 5 90.17(n)1
    98.46(a)1
      9 (28.62 cM)5
    196841  NM_009041.31  NP_033067.21 
     520471505 
    chicken
    (Gallus gallus)
    Aves RDX1 radixin 86.45(n)
    97.77(a)
      395511  NM_204751.1  NP_990082.1 
    lizard
    (Anolis carolinensis)
    Reptilia RDX6
    radixin
    93(a)
    1 ↔ 1
    3(186411969-186449397)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.203302 Xenopus laevis transcribed sequence with moderate similarity more 81.88(n)    BQ726565.1 
    zebrafish
    (Danio rerio)
    Actinopterygii msnb1 moesin b 69.74(n)
    77.04(a)
      553434  XM_695235.5  XP_700327.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Moe3 establishment and/or maintenance of
    epithelial more
    59(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea erm-13 membrane protein 53(a)
    (best of 2)
      I(5284602-5291512)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RDX gene
    MSN2  MYLIP2  FRMD4A2  FRMD4B2  NF22  EZR2  
    18/25 SIMAP similar genes for RDX using alignment to 11 protein entries:     RADI_HUMAN (see all proteins) (see all similar genes):
    DKFZp434I0812    EZR-ROS1    MSN    VIL2    EZR    NF2
    ZNF843    ZNF573    BNC2    KIAA1651    FLJ20555    PTPN3
    FRMD4B    FARP2    FRMD5    PTPN4    EPB41L1    EPB41L3

    RDX for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for RDX
    PGOHUM00000242130 PGOHUM00000241219 PGOHUM00000241682


    (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

    10/2483 SNPs in RDX are shown (see all 2483)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0368594
    Deafness, autosomal recessive, 24 (DFNB24)4--see VAR_0368592 D N mis40--------
    rs773261151,2
    C--109963175(+) ATTACA/GTTTTG 2 -- int1 ds50010--------
    rs122957781,2
    C,F--109963254(+) CCAAAG/TAGGTA 2 -- int1 ds50012Minor allele frequency- T:0.19WA 120
    rs1479972791,2
    --109963272(+) AAGAGC/TAGATC 2 -- int1 ds50010--------
    rs456173321,2
    C,F--109963366(+) AAGAAA/CCATAC 2 -- int1 ds50011Minor allele frequency- C:0.03NS 38
    rs1903210801,2
    --109963451(+) TATTAC/TCCAAA 2 -- ut310--------
    rs1506594321,2
    C--109963555(+) TTACAC/TTGACT 2 -- ut310--------
    rs1389426671,2
    --109963877(+) ATGAAC/TAGTAG 2 -- ut310--------
    rs1818404051,2
    --109964030(+) TAAACA/GCAACC 2 -- ut310--------
    rs1842808501,2
    --109964046(+) TTTACA/GTAATG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for RDX (110045605 - 110167447 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RDX:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv484CNV Loss18451855


    Human Gene Mutation Database (HGMD): RDX
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 179410   
    OMIM disorders: 611022  
    UniProtKB/Swiss-Prot: RADI_HUMAN, P35241
  • Deafness, autosomal recessive, 24 (DFNB24) [MIM:611022]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/36 diseases for RDX (see all 36):    About MalaCards
    dfnb24 nonsyndromic hearing loss and deafness    deafness, autosomal recessive, 24    prostate cancer, progression and metastasis of    prostate cancer, progression of
    west syndrome    neurofibromatosis    nonsyndromic hearing loss and deafness, autosomal recessive    neuroma
    von hippel-lindau disease    cerebral cavernous malformations 3    cerebral cavernous malformation    cavernous malformation
    temporal lobe epilepsy    meningioma    sensorineural hearing loss    cholestasis
    primary biliary cirrhosis    prostate cancer    glaucoma    lung adenocarcinoma

    1 disease from the University of Copenhagen DISEASES database for RDX:
    Neurofibromatosis

    RDX for disorders           About GeneDecksing

    10/14 Novoseek inferred disease relationships for RDX gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibromatosis type 2 87.6 9 9553042 (1), 15467741 (1), 8012352 (1), 11438984 (1) (see all 9)
    meningioma 59.9 4 18190852 (1), 8586465 (1), 17640904 (1), 11368764 (1)
    schwannoma 55.6 4 9403715 (3), 11368764 (1)
    tumors 33.4 26 11092524 (2), 9553042 (1), 15467741 (1), 16054017 (1) (see all 23)
    neuroma acoustic 32.6 1 8586465 (1)
    metastasis 12.3 5 19152423 (1), 19875476 (1), 20036004 (1), 17874463 (1)
    carcinoma squamous cell 0 1 15655179 (1)
    breast carcinoma 0 2 18190852 (1), 17640904 (1)
    dysplasia 0 1 17910583 (1)
    cancer lung 0 2 18190852 (1), 17640904 (1)

    Genetic Association Database (GAD): RDX
    Human Genome Epidemiology (HuGE) Navigator: RDX (2 documents)

    Export disorders for RDX 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 RDX gene, integrated from 9 sources (see all 314):
    (articles sorted by number of sources associating them with RDX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. (PubMed id 17226784)1, 2, 3, 9 Khan S.Y....Riazuddin S. (2007)
    2. Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes. (PubMed id 8486357)1, 2, 3, 9 Wilgenbus K.K.... Furthmayr H. (1993)
    3. Evaluation of nine candidate genes in patients with n ormal tension glaucoma: a case control study. (PubMed id 19754948)1, 4, 9 Wolf C....Weisschuh N. (2009)
    4. NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins. (PubMed id 9430655)1, 2, 9 Murthy A.... Ramesh V. (1998)
    5. 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. (2004)
    6. Disturbed colocalization of multidrug resistance protein 2 and radixin in human cholestatic liver diseases. (PubMed id 17725603)1, 9 Kojima H....Fukui H. (2008)
    7. Ezrin and radixin both regulate the apical membrane localization of ABCC2 (MRP2) in human intestinal epithelial Caco-2 cells. (PubMed id 17825285)1, 9 Yang Q....Sugiyama Y. (2007)
    8. Differential expression and distribution of ezrin, radixin and moesin in human natural killer cells. (PubMed id 12385025)1, 9 Ramoni C....Fais S. (2002)
    9. Changes in the expression and localization of hepatocellular transporters and radixin in primary biliary cirrhosis. (PubMed id 14568249)1, 9 Kojima H....Keppler D. (2003)
    10. Interaction of radixin with Rho small G protein GDP/GTP exchange protein Dbl. (PubMed id 9681826)1, 9 Takahashi K....Takai Y. (1998)

    (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: 5962 HGNC: 9944 AceView: RDX Ensembl:ENSG00000137710 euGenes: HUgn5962
    ECgene: RDX Kegg: 5962 H-InvDB: RDX

    (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 RDX 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 RDX gene:
    Search GeneIP for patents involving RDX

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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