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    RDX radixin [ Homo sapiens (human) ]

    Gene ID: 5962, updated on 13-Feb-2019

    Summary

    Official Symbol
    RDXprovided by HGNC
    Official Full Name
    radixinprovided by HGNC
    Primary source
    HGNC:HGNC:9944
    See related
    Ensembl:ENSG00000137710 MIM:179410
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNB24
    Summary
    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]
    Expression
    Broad expression in adrenal (RPKM 86.1), lung (RPKM 29.5) and 23 other tissues See more
    Orthologs

    Genomic context

    See RDX in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (110174880..110296712, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (110045605..110167437, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984384 Neighboring gene RNA polymerase II subunit E pseudogene Neighboring gene VISTA enhancer hs1311 Neighboring gene zinc finger CCCH-type containing 12C Neighboring gene uncharacterized LOC105369486 Neighboring gene uncharacterized LOC107984385 Neighboring gene ferredoxin 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Deafness, autosomal recessive 24 Compare labs

    NHGRI GWAS Catalog

    Description
    Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Treatment of CD4+ T cells with HIV-1 gp120 induces CD95-mediated apoptosis, CD95/ERM protein (ezrin, radixin, moesin) colocalization and stable ezrin phosphorylation PubMed
    Pr55(Gag) gag HIV-1 Gag co-localizes with ezrin-radixin-moesin proteins at polarized HIV-1 assembly sites in human T cells PubMed
    Vpr vpr HIV-1 Vpr-induced downregulation of sodium hydrogen exchanger, isoform 1 (NHE1), in Vpr(+) virus infected cells leads to acidification of cells, loss of ezrin, radixin and moesin (ERM) protein complex and decrease of AKT phosphorylation PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • L1CAM interactions, organism-specific biosystem (from REACTOME)
      L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
    • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
      MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • MicroRNAs in cancer, conserved biosystem (from KEGG)
      MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Recycling pathway of L1, organism-specific biosystem (from REACTOME)
      Recycling pathway of L1, organism-specific biosystemL1 functions in many aspects of neuronal development including axon outgrowth and neuronal migration. These functions require coordination between L1 and the actin cytoskeleton. F-actin continuously ...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • RhoA signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      RhoA signaling pathway, organism-specific biosystem
      RhoA signaling pathway
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA binding HDA PubMed 
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cadherin binding HDA PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein kinase A binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    apical protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    barbed-end actin filament capping IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to platelet-derived growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to thyroid hormone stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    establishment of endothelial barrier IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    establishment of protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    microvillus assembly IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of adherens junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell size IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of homotypic cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of G1/S transition of mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cellular protein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of early endosome to late endosome transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of protein localization to early endosome IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein kinase A signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of GTPase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of Rap protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of actin filament bundle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell size IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of organelle assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of ruffle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell periphery IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell tip IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    cleavage furrow IEA
    Inferred from Electronic Annotation
    more info
     
    cortical actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular exosome HDA PubMed 
    extracellular space HDA PubMed 
    filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    focal adhesion HDA PubMed 
    colocalizes_with focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    microvillus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    midbody IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ruffle IEA
    Inferred from Electronic Annotation
    more info
     
    stereocilium IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023044.2 RefSeqGene

      Range
      5001..72272
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001260492.1NP_001247421.1  radixin isoform 1

      See identical proteins and their annotated locations for NP_001247421.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AP000901, DQ916738
      Consensus CDS
      CCDS58174.1
      UniProtKB/Swiss-Prot
      P35241
      Related
      ENSP00000384136.1, ENST00000405097.5
      Conserved Domains (3) summary
      smart00295
      Location:7206
      B41; Band 4.1 homologues
      cd13194
      Location:200296
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:347583
      ERM; Ezrin/radixin/moesin family
    2. NM_001260493.1NP_001247422.1  radixin isoform 1

      See identical proteins and their annotated locations for NP_001247422.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR exon, compared to variant 1. Both variants 1 and 2 encode the same isoform 1.
      Source sequence(s)
      DQ916742
      Consensus CDS
      CCDS58174.1
      UniProtKB/Swiss-Prot
      P35241
      Related
      ENSP00000432112.1, ENST00000528498.5
      Conserved Domains (3) summary
      smart00295
      Location:7206
      B41; Band 4.1 homologues
      cd13194
      Location:200296
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:347583
      ERM; Ezrin/radixin/moesin family
    3. NM_001260494.1NP_001247423.1  radixin isoform 3

      See identical proteins and their annotated locations for NP_001247423.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two internal coding exons and differs in the 3' region, compared to variant 1. The resulting isoform (3) lacks an internal segment and has a shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AK316061, AP000901, BC047109, DQ916738, N92548
      Consensus CDS
      CCDS58172.1
      UniProtKB/Swiss-Prot
      P35241
      Related
      ENSP00000445826.1, ENST00000544551.5
      Conserved Domains (3) summary
      cd13194
      Location:64160
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:211447
      ERM; Ezrin/radixin/moesin family
      cl09511
      Location:2770
      FERM_B-lobe; FERM domain B-lobe
    4. NM_001260495.1NP_001247424.1  radixin isoform 4

      See identical proteins and their annotated locations for NP_001247424.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks multiple exons in the coding region, compared to variant 1. The resulting isoform (4) lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      AP000901, DQ916740
      Consensus CDS
      CCDS58171.1
      UniProtKB/Swiss-Prot
      P35241
      Related
      ENSP00000433580.1, ENST00000528900.5
      Conserved Domains (1) summary
      pfam00769
      Location:1236
      ERM; Ezrin/radixin/moesin family
    5. NM_001260496.1NP_001247425.1  radixin isoform 5

      See identical proteins and their annotated locations for NP_001247425.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks multiple exons in the coding region, compared to variant 1. The resulting isoform (5) lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      AP000901, DQ916739
      Consensus CDS
      CCDS58173.1
      UniProtKB/Swiss-Prot
      P35241
      Related
      ENSP00000436277.1, ENST00000530301.5
      Conserved Domains (2) summary
      smart00295
      Location:7131
      B41; Band 4.1 homologues
      pfam00769
      Location:126179
      ERM; Ezrin/radixin/moesin family
    6. NM_002906.3NP_002897.1  radixin isoform 2

      See identical proteins and their annotated locations for NP_002897.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      BC002626, BC047109, BI600187, BX648536, CF124193, CF265114, L02320
      Consensus CDS
      CCDS8343.1
      UniProtKB/Swiss-Prot
      P35241
      UniProtKB/TrEMBL
      B0YJ88, Q6PKD3
      Related
      ENSP00000342830.4, ENST00000343115.9
      Conserved Domains (3) summary
      smart00295
      Location:7206
      B41; Band 4.1 homologues
      cd13194
      Location:200296
      FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family
      pfam00769
      Location:347583
      ERM; Ezrin/radixin/moesin family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      110174880..110296712 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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