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RDX radixin [ Homo sapiens (human) ]

Gene ID: 5962, updated on 17-Jun-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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 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 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.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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