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    RDX radixin [ Homo sapiens (human) ]

    Gene ID: 5962, updated on 10-Apr-2021

    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
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    Genomic context

    See RDX in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210226 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (110174922..110296614, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (110045647..110167339, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984384 Neighboring gene RNA polymerase II, I and III subunit E pseudogene Neighboring gene VISTA enhancer hs1311 Neighboring gene zinc finger CCCH-type containing 12C Neighboring gene uncharacterized LOC107984385 Neighboring gene long intergenic non-protein coding RNA 2732 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Deafness, autosomal recessive 24
    MedGen: C1970239 OMIM: 611022
    Compare labs
    Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
    GeneReviews: Not available

    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 PubChem

    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 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
     
    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
     
    adherens junction 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
     
    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001260492.2NP_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)
      AP002788, CK299903, DQ916738
      Consensus CDS
      CCDS58174.1
      UniProtKB/Swiss-Prot
      P35241
      Related
      ENSP00000496414.1, ENST00000647231.1
      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_001260493.2NP_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)
      AP000901, AP002788
      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_001260494.2NP_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)
      AP000901, AP002788
      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
      pfam00373
      Location:2270
      FERM_M; FERM central domain
      pfam00769
      Location:211447
      ERM; Ezrin/radixin/moesin family
    4. NM_001260495.2NP_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, AP002788
      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_001260496.2NP_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, AP002788
      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_002906.4NP_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)
      AP000901, AP002788
      Consensus CDS
      CCDS8343.1
      UniProtKB/Swiss-Prot
      P35241
      UniProtKB/TrEMBL
      B0YJ88, Q6PKD3
      Related
      ENSP00000496503.1, ENST00000645495.1
      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 Updated Annotation Release 109.20210226

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      110174922..110296614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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