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RDX radixin [ Homo sapiens (human) ]

Gene ID: 5962, updated on 19-Sep-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
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Genomic context

See RDX in Genome Data Viewer
Location:
11q22.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (110174922..110296614, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (110184743..110306806, complement)
RS_2024_09 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 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_2024_08

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