U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    RDX radixin [ Homo sapiens (human) ]

    Gene ID: 5962, updated on 17-Jun-2024

    Summary

    Official Symbol
    RDXprovided by HGNC
    Official Full Name
    radixinprovided by HGNC
    Primary source
    HGNC:HGNC:9944
    See related
    Ensembl:ENSG00000137710 MIM:179410; AllianceGenome:HGNC:9944
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RDX in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (110174922..110296614, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (110184743..110306806, complement)
    105.20220307 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 RNA polymerase II, I and III subunit E pseudogene Neighboring gene Sharpr-MPRA regulatory region 12390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3885 Neighboring gene zinc finger CCCH-type containing 12C Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:109998850-109999372 Neighboring gene VISTA enhancer hs1311 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:110044207-110045122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:110052423-110053111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5500 Neighboring gene Sharpr-MPRA regulatory region 13162 Neighboring gene MPRA-validated peak1465 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:110166436-110167308 Neighboring gene uncharacterized LOC124902752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5502 Neighboring gene Sharpr-MPRA regulatory region 14338 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:110233983-110234504 Neighboring gene long intergenic non-protein coding RNA 2732 Neighboring gene uncharacterized LOC107984385

    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
    Autosomal recessive nonsyndromic hearing loss 24
    MedGen: C1970239 OMIM: 611022 GeneReviews: Genetic Hearing Loss Overview
    Compare labs

    EBI GWAS Catalog

    Description
    Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
    EBI GWAS 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables cell adhesion molecule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase A binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in apical protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in barbed-end actin filament capping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to platelet-derived growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to thyroid hormone stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in establishment of endothelial barrier IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in establishment of protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of adherens junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell size IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of homotypic cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of G1/S transition of mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of early endosome to late endosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of early endosome to late endosome transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein localization to early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of protein localization to early endosome IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein kinase A signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of GTPase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of Rap protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of actin filament bundle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell size IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of organelle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of organelle assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of ruffle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in apical part of cell IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell periphery IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell tip IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cleavage furrow IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cortical actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in filopodium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in focal adhesion HDA PubMed 
    colocalizes_with focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in microvillus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in microvillus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in midbody IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in stereocilium base 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_023044.3 RefSeqGene

      Range
      5000..72173
      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/TrEMBL
      A0A2R8Y5S7
      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/TrEMBL
      A0A2R8Y5S7
      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/TrEMBL
      B7Z2S7
      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
      A7YIJ8, A7YIK0, A7YIK3, B7Z9U6, F5H1A7, P35241, Q86Y61
      UniProtKB/TrEMBL
      A0A2R8Y5S7, B0YJ88
      Related
      ENSP00000496503.2, ENST00000645495.2
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047427390.1XP_047283346.1  radixin isoform X1

      UniProtKB/Swiss-Prot
      A7YIJ8, A7YIK0, A7YIK3, B7Z9U6, F5H1A7, P35241, Q86Y61
      UniProtKB/TrEMBL
      A0A2R8Y5S7, B0YJ88
    2. XM_047427391.1XP_047283347.1  radixin isoform X2

      Related
      ENST00000532461.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      110184743..110306806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369600.1XP_054225575.1  radixin isoform X1

      UniProtKB/Swiss-Prot
      A7YIJ8, A7YIK0, A7YIK3, B7Z9U6, F5H1A7, P35241, Q86Y61
      UniProtKB/TrEMBL
      A0A2R8Y5S7, B0YJ88
    2. XM_054369601.1XP_054225576.1  radixin isoform X2