RDX radixin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 11q22.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (110174922..110296614, complement)
RS_2023_03	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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Radixin modulates the function of outer hair cell stereocilia.
Title: Radixin modulates the function of outer hair cell stereocilia.
Radixin Relocalization and Nonmuscle alpha-Actinin Expression Are Features of Remodeling Cardiomyocytes in Adult Patients with Dilated Cardiomyopathy.
Title: Radixin Relocalization and Nonmuscle α-Actinin Expression Are Features of Remodeling Cardiomyocytes in Adult Patients with Dilated Cardiomyopathy.
ERM-Dependent Assembly of T Cell Receptor Signaling and Co-stimulatory Molecules on Microvilli prior to Activation.
Title: ERM-Dependent Assembly of T Cell Receptor Signaling and Co-stimulatory Molecules on Microvilli prior to Activation.
ERM Proteins at the Crossroad of Leukocyte Polarization, Migration and Intercellular Adhesion.
Title: ERM Proteins at the Crossroad of Leukocyte Polarization, Migration and Intercellular Adhesion.
Activation of PKC induces leukocyte adhesion by the dephosphorylation of ERM.
Title: Activation of PKC induces leukocyte adhesion by the dephosphorylation of ERM.
Novel compound heterozygosity for c.129_130del, p.His43Glnfs*28 and c.76_79del, p.Lys26* in the RDX gene was identified in Chinese family with non-syndromic hearing loss.
Title: Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.
This article reviews data pertaining to potential molecular interaction partners of ezrin and radixin in astrocytes, with a focus on PKC and GRK2, and in gliomas and other diseases, to stimulate further research on their potential roles in glia-synaptic physiology and pathology. [review]
Title: Perspectives for Ezrin and Radixin in Astrocytes: Kinases, Functions and Pathology.
Merlin regulates contact inhibition and is an integral part of cell-cell junctions, while ERM proteins, ezrin, radixin and moesin, assist in the formation and maintenance of specialized plasma membrane structures and membrane vesicle structures. [review]
Title: Two Sides of the Coin: Ezrin/Radixin/Moesin and Merlin Control Membrane Structure and Contact Inhibition.
CPI-17 drives Ras activity and tumorigenesis in melanomas in a two-fold way; inactivation of the tumor suppressor merlin and activation of the growth promoting ERM family.
Title: CPI-17 drives oncogenic Ras signaling in human melanomas via Ezrin-Radixin-Moesin family proteins.
The results reveal a supportive role of ERMs in cortical activities during cytokinesis, and also provide insight into the selective mechanism that preferentially associates cytokinesis-relevant proteins with the division site.
Title: Dynamics and function of ERM proteins during cytokinesis in human cells.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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&#x000a0;Diabetes Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RDX (e-PCR)
- UniSTS:504078

RH115 (e-PCR)
- UniSTS:31005

RH80793 (e-PCR)
- UniSTS:87864

SHGC-81559 (e-PCR)
- UniSTS:104295

RDX_8589 (e-PCR)
- UniSTS:467859

RH91872 (e-PCR)
- UniSTS:83883

SHGC-12842 (e-PCR)
- UniSTS:71604

RH27285 (e-PCR)
- UniSTS:87492

RH27481 (e-PCR)
- UniSTS:89807

WI-17994 (e-PCR)
- UniSTS:15063

RH27475 (e-PCR)
- UniSTS:92376

RH79199 (e-PCR)
- UniSTS:13279

GDB:196850 (e-PCR)
- UniSTS:155890

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA binding	HDA more info	PubMed
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables cell adhesion molecule binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
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	PubMed
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	PubMed
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	PubMed
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	PubMed
is_active_in apical part of cell	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in filopodium	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in filopodium	ISS Inferred from Sequence or Structural Similarity more info
located_in focal adhesion	HDA more info	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	PubMed
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	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
colocalizes_with plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: radixin

NCBI Reference Sequences (RefSeq)

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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

NG_023044.3 RefSeqGene

Range

5000..72173

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001260492.2 → NP_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:7 → 206

B41; Band 4.1 homologues

cd13194
Location:200 → 296

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:347 → 583

ERM; Ezrin/radixin/moesin family
NM_001260493.2 → NP_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:7 → 206

B41; Band 4.1 homologues

cd13194
Location:200 → 296

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:347 → 583

ERM; Ezrin/radixin/moesin family
NM_001260494.2 → NP_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:64 → 160

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00373
Location:22 → 70

FERM_M; FERM central domain

pfam00769
Location:211 → 447

ERM; Ezrin/radixin/moesin family
NM_001260495.2 → NP_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:1 → 236

ERM; Ezrin/radixin/moesin family
NM_001260496.2 → NP_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:7 → 131

B41; Band 4.1 homologues

pfam00769
Location:126 → 179

ERM; Ezrin/radixin/moesin family
NM_002906.4 → NP_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, Q86Y61

UniProtKB/TrEMBL

B0YJ88, Q6PKD3

Related

ENSP00000496503.2, ENST00000645495.2

Conserved Domains (3) summary

smart00295
Location:7 → 206

B41; Band 4.1 homologues

cd13194
Location:200 → 296

FERM_C_ERM; FERM domain C-lobe/F3 of the ERM family

pfam00769
Location:347 → 583

ERM; Ezrin/radixin/moesin family