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Aliases for RDX Gene

Aliases for RDX Gene

  • Radixin 2 3 3 5
  • Deafness, Autosomal Recessive 24 2
  • DFNB24 3

External Ids for RDX Gene

Previous HGNC Symbols for RDX Gene

  • DFNB24

Previous GeneCards Identifiers for RDX Gene

  • GC11M112371
  • GC11M111571
  • GC11M109637
  • GC11M109605
  • GC11M106024
  • GC11M110045

Summaries for RDX Gene

Entrez Gene Summary for RDX Gene

  • 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]

GeneCards Summary for RDX Gene

RDX (Radixin) is a Protein Coding gene. Diseases associated with RDX include Deafness, Autosomal Recessive 24 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and G-protein signaling_Rac2 regulation pathway. GO annotations related to this gene include poly(A) RNA binding and cytoskeletal protein binding. An important paralog of this gene is MSN.

UniProtKB/Swiss-Prot for RDX Gene

  • Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane.

Gene Wiki entry for RDX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RDX Gene

Genomics for RDX Gene

Regulatory Elements for RDX Gene

Enhancers for RDX Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F110316 1.4 FANTOM5 Ensembl ENCODE 21.2 -22.2 -22231 4.5 HDAC1 PKNOX1 CBX3 ATF1 ARNT TBL1XR1 FEZF1 RARA CHAMP1 GATA2 RDX ZC3H12C FDX1 LOC105369486
GH11F110354 1.4 FANTOM5 Ensembl ENCODE 18.2 -59.9 -59873 4.2 TBP SIN3A BRCA1 RAD21 RFX5 YY1 GTF3C2 POLR3A ZNF366 FOS LOC105369486 RDX FDX1 ZC3H12C PIR61577
GH11F110336 1.2 Ensembl ENCODE 17.2 -42.0 -42015 4.6 HDAC1 ATF1 ZFP64 SIN3A YBX1 FEZF1 BMI1 ZBTB40 ZNF335 GATA2 RDX LOC105369486
GH11F110347 1.4 FANTOM5 Ensembl ENCODE 14 -52.1 -52083 3.3 HDGF TBP PKNOX1 TBL1XR1 BMI1 RAD21 ZBTB40 EGR1 ETV6 CREM FDX1 RDX ZC3H12C LOC105369486
GH11F110311 1.3 FANTOM5 Ensembl ENCODE 8.7 -15.4 -15436 1.7 ESRRA JUN BACH1 EBF1 ZNF316 CBX5 FOS NFE2 MAFK NFE2L2 ZC3H12C RDX FDX1 LOC105369486
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RDX on UCSC Golden Path with GeneCards custom track

Promoters for RDX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000568698 1222 3801 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 CBX5 ZNF207 KLF7

Genomic Location for RDX Gene

Chromosome:
11
Start:
110,174,880 bp from pter
End:
110,296,722 bp from pter
Size:
121,843 bases
Orientation:
Minus strand

Genomic View for RDX Gene

Genes around RDX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RDX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RDX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RDX Gene

Proteins for RDX Gene

  • Protein details for RDX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35241-RADI_HUMAN
    Recommended name:
    Radixin
    Protein Accession:
    P35241
    Secondary Accessions:
    • A7YIJ8
    • A7YIK0
    • A7YIK3
    • B7Z9U6
    • F5H1A7
    • Q86Y61

    Protein attributes for RDX Gene

    Size:
    583 amino acids
    Molecular mass:
    68564 Da
    Quaternary structure:
    • Binds SLC9A3R1 (PubMed:9430655). Interacts with NHERF1, NHERF2, LAYN, MME/NEP and ICAM2 (By similarity). Interacts with CPNE1 (via VWFA domain) and CPNE4 (via VWFA domain) (By similarity).

    Alternative splice isoforms for RDX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RDX Gene

Post-translational modifications for RDX Gene

  • Phosphorylated by tyrosine-protein kinases. Phosphorylation by ROCK2 suppresses the head-to-tail association of the N-terminal and C-terminal halves resulting in an opened conformation which is capable of actin and membrane-binding (By similarity).
  • Ubiquitination at Lys 35, Lys 83, Lys 162, Lys 209, and Lys 526
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RDX (Radixin)

No data available for DME Specific Peptides for RDX Gene

Domains & Families for RDX Gene

Suggested Antigen Peptide Sequences for RDX Gene

Graphical View of Domain Structure for InterPro Entry

P35241

UniProtKB/Swiss-Prot:

RADI_HUMAN :
  • The N-terminal domain interacts with the C-terminal domain of LAYN. An interdomain interaction between its N-terminal and C-terminal domains inhibits its ability to bind LAYN. In the presence of acidic phospholipids, the interdomain interaction is inhibited and this enhances binding to LAYN (By similarity).
Domain:
  • The N-terminal domain interacts with the C-terminal domain of LAYN. An interdomain interaction between its N-terminal and C-terminal domains inhibits its ability to bind LAYN. In the presence of acidic phospholipids, the interdomain interaction is inhibited and this enhances binding to LAYN (By similarity).
  • Contains 1 FERM domain.
genes like me logo Genes that share domains with RDX: view

Function for RDX Gene

Molecular function for RDX Gene

GENATLAS Biochemistry:
radixin,actin capping protein,ezrin/moesin/radixin-like (ERM) family member,responding and participating in reorganization of membrane-cytoplasmic interactions,highly expressed in the undercoat of the adherens junction,involved in regulation of linkage of the cytoskeleton to the plasma membrane,deleted in lymphocytes,monocytes,neutrophils and platelet,not sensitive to capain
UniProtKB/Swiss-Prot EnzymeRegulation:
A head-to-tail association, of the N-terminal and C-terminal halves results in a closed conformation (inactive form) which is incapable of actin or membrane-binding.
UniProtKB/Swiss-Prot Function:
Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane.

Gene Ontology (GO) - Molecular Function for RDX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 17825285
GO:0005515 protein binding IPI 10806479
GO:0008092 cytoskeletal protein binding IEA --
GO:0019904 protein domain specific binding IEA --
GO:0042803 protein homodimerization activity ISS 16582480
genes like me logo Genes that share ontologies with RDX: view
genes like me logo Genes that share phenotypes with RDX: view

Human Phenotype Ontology for RDX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RDX Gene

MGI Knock Outs for RDX:
  • Rdx tm1.1(KOMP)Vlcg
  • Rdx tm1Sts

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RDX Gene

Localization for RDX Gene

Subcellular locations from UniProtKB/Swiss-Prot for RDX Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cleavage furrow. Note=Highly concentrated in the undercoat of the cell-to-cell adherens junction and the cleavage furrow in the interphase and mitotic phase, respectively.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RDX gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
cytosol 4
nucleus 2
endosome 1

Gene Ontology (GO) - Cellular Components for RDX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005615 extracellular space IDA 16502470
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 colocalizes_with plasma membrane ISS,IDA --
genes like me logo Genes that share ontologies with RDX: view

Pathways & Interactions for RDX Gene

genes like me logo Genes that share pathways with RDX: view

Gene Ontology (GO) - Biological Process for RDX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008360 regulation of cell shape IMP 22467863
GO:0008361 regulation of cell size IGI 22467863
GO:0010628 positive regulation of gene expression IGI 23264465
GO:0010737 protein kinase A signaling ISS --
GO:0030033 microvillus assembly IEA --
genes like me logo Genes that share ontologies with RDX: view

No data available for SIGNOR curated interactions for RDX Gene

Drugs & Compounds for RDX Gene

(8) Drugs for RDX Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-Myo-Inositol-1,4,5-Triphosphate Experimental Pharma Target 0

(5) Additional Compounds for RDX Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RDX: view

Transcripts for RDX Gene

Unigene Clusters for RDX Gene

Radixin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RDX Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^
SP1: - -
SP2:
SP3: -
SP4: - -
SP5: - - - - - -
SP6: - - -
SP7: - -
SP8: -
SP9:
SP10:

ExUns: 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for RDX Gene

GeneLoc Exon Structure for
RDX
ECgene alternative splicing isoforms for
RDX

Expression for RDX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RDX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RDX Gene

This gene is overexpressed in Adrenal Gland (x6.1).

Protein differential expression in normal tissues from HIPED for RDX Gene

This gene is overexpressed in Testis (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RDX Gene



Protein tissue co-expression partners for RDX Gene

NURSA nuclear receptor signaling pathways regulating expression of RDX Gene:

RDX

SOURCE GeneReport for Unigene cluster for RDX Gene:

Hs.263671
genes like me logo Genes that share expression patterns with RDX: view

No data available for mRNA Expression by UniProt/SwissProt for RDX Gene

Orthologs for RDX Gene

This gene was present in the common ancestor of animals.

Orthologs for RDX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RDX 34 35
  • 99.72 (n)
oppossum
(Monodelphis domestica)
Mammalia RDX 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RDX 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RDX 34 35
  • 94.57 (n)
dog
(Canis familiaris)
Mammalia RDX 34 35
  • 93.93 (n)
rat
(Rattus norvegicus)
Mammalia Rdx 34
  • 90.22 (n)
mouse
(Mus musculus)
Mammalia Rdx 34 16 35
  • 90.17 (n)
chicken
(Gallus gallus)
Aves RDX 34 35
  • 86.45 (n)
lizard
(Anolis carolinensis)
Reptilia RDX 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5935 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.20330 34
zebrafish
(Danio rerio)
Actinopterygii msna 34
  • 70.59 (n)
nf2b 35
  • 42 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2827 34
fruit fly
(Drosophila melanogaster)
Insecta Moe 36 35
  • 59 (a)
Mer 36
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea erm-1 36 35
  • 53 (a)
nfm-1 36
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6897 35
  • 57 (a)
OneToMany
Species where no ortholog for RDX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RDX Gene

ENSEMBL:
Gene Tree for RDX (if available)
TreeFam:
Gene Tree for RDX (if available)

Paralogs for RDX Gene

Variants for RDX Gene

Sequence variations from dbSNP and Humsavar for RDX Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121918379 Deafness, autosomal recessive, 24 (DFNB24) [MIM:611022], Pathogenic 110,231,889(-) GTATC(A/G)ATGAG reference, missense
rs121918380 Pathogenic 110,263,964(-) TACCC(C/T)AGCGG intron-variant, reference, stop-gained
rs727504709 Pathogenic 110,236,135(-) AAGAA(-/G)AAAAA intron-variant, reference, frameshift-variant
rs148468207 Likely benign 110,272,560(+) CCAGT(C/T)GTATT intron-variant, reference, synonymous-codon, missense
rs376917034 Likely benign 110,258,186(+) TCCAA(A/C/T)ACACT intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for RDX Gene

Variant ID Type Subtype PubMed ID
nsv983060 CNV duplication 23825009
nsv975226 CNV duplication 23825009
nsv832265 CNV gain 17160897
nsv484 CNV deletion 18451855
nsv1159937 CNV deletion 26073780
nsv1152468 CNV duplication 26484159
esv3627716 CNV loss 21293372
dgv721n106 CNV duplication 24896259

Variation tolerance for RDX Gene

Residual Variation Intolerance Score: 23.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RDX Gene

Human Gene Mutation Database (HGMD)
RDX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RDX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RDX Gene

Disorders for RDX Gene

MalaCards: The human disease database

(7) MalaCards diseases for RDX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 24
  • autosomal recessive nonsyndromic deafness 24
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
dfnb24 nonsyndromic hearing loss and deafness
  • dfnb 24 nonsyndromic hearing loss and deafness
neurofibromatosis, type 2
  • neurofibromatosis, type ii
kindler syndrome
  • hereditary acrokeratotic poikiloderma of kindler-weary
- elite association - COSMIC cancer census association via MalaCards
Search RDX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RADI_HUMAN
  • Deafness, autosomal recessive, 24 (DFNB24) [MIM:611022]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:17226784}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RDX

Genetic Association Database (GAD)
RDX
Human Genome Epidemiology (HuGE) Navigator
RDX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RDX
genes like me logo Genes that share disorders with RDX: view

No data available for Genatlas for RDX Gene

Publications for RDX Gene

  1. Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. (PMID: 17226784) Khan S.Y. … Riazuddin S. (Hum. Mutat. 2007) 2 3 4 22 64
  2. Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes. (PMID: 8486357) Wilgenbus K.K. … Furthmayr H. (Genomics 1993) 2 3 4 22 64
  3. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. (PMID: 19754948) Wolf C. … Weisschuh N. (BMC Med. Genet. 2009) 3 22 46 64
  4. Proteomic profiling in pancreatic cancer with and without lymph node metastasis. (PMID: 19152423) Cui Y. … Han J. (Int. J. Cancer 2009) 3 22 64
  5. Ezrin, Radixin, and Moesin (ERM) proteins function as pleiotropic regulators of human immunodeficiency virus type 1 infection. (PMID: 18295815) Kubo Y. … Yamamoto N. (Virology 2008) 3 22 64

Products for RDX Gene

Sources for RDX Gene

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