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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 Non-Syndromic Genetic Deafness. Among its related pathways are RhoA signaling pathway and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include 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

Additional gene information for RDX Gene

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

Genomics for RDX Gene

GeneHancer (GH) Regulatory Elements for RDX Gene

Promoters and enhancers for RDX Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I110292 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 559.8 +0.4 441 7.5 SMAD1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF213 ZNF207 ZNF143 SP3 RDX FDX1 GC11M110268
GH11I110316 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 21.2 -22.2 -22231 4.5 HDAC1 ATF1 PKNOX1 SMAD1 NFIB ARNT FEZF1 RARA CHAMP1 NCOA2 RDX ZC3H12C FDX1 LOC105369486
GH11I110354 Enhancer 1.3 FANTOM5 Ensembl ENCODE 18.2 -59.9 -59872 4.2 FOXA2 SIN3A BRCA1 RAD21 RFX5 YY1 GTF3C2 POLR3A ZNF366 FOS LOC105369486 RDX FDX1 ZC3H12C PIR61577
GH11I110336 Enhancer 1 Ensembl ENCODE 17.3 -42.0 -42015 4.6 HDAC1 ATF1 BMI1 YBX1 ZBTB40 ATF7 IKZF2 RUNX3 CREM SMARCA5 RDX LOC105369486
GH11I110347 Enhancer 1.2 FANTOM5 Ensembl ENCODE 14 -52.1 -52083 3.3 HDGF PKNOX1 BMI1 BATF RAD21 IRF4 ATF7 ETV6 BCLAF1 IKZF2 FDX1 RDX ZC3H12C LOC105369486
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RDX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RDX gene promoter:

Genomic Locations for RDX Gene

Genomic Locations for RDX Gene
chr11:110,174,880-110,296,722
(GRCh38/hg38)
Size:
121,843 bases
Orientation:
Minus strand
chr11:110,045,605-110,167,447
(GRCh37/hg19)

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 Lys35, Lys83, isoforms=3, 4, 5162, isoforms=4, 5209, and isoforms=2, 4, 5526

No data available for DME Specific Peptides for RDX Gene

Domains & Families for RDX Gene

Gene Families for RDX Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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).
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.

Phenotypes From GWAS Catalog for RDX Gene

Gene Ontology (GO) - Molecular Function for RDX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,HDA 22658674
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 --
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 tm1Sts
  • Rdx tm1.1(KOMP)Vlcg

Animal Model Products

Clone Products

  • Addgene plasmids for RDX

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 3
nucleus 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

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,HDA 16502470
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 colocalizes_with plasma membrane ISS --
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
1D-myo-inositol 1,4,5-trisphosphate 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:

Clone Products

  • Addgene plasmids for RDX

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 CGAP 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

Evidence on tissue expression from TISSUES for RDX Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Eye(4.5)
  • Heart(3.2)
  • Kidney(3.1)
  • Blood(2.9)
  • Lung(2.9)
  • Muscle(2.8)
  • Intestine(2.7)
  • Adrenal gland(2.4)
  • Spleen(2.1)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RDX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
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 33 34
  • 99.72 (n)
oppossum
(Monodelphis domestica)
Mammalia RDX 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RDX 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RDX 33 34
  • 94.57 (n)
dog
(Canis familiaris)
Mammalia RDX 33 34
  • 93.93 (n)
rat
(Rattus norvegicus)
Mammalia Rdx 33
  • 90.22 (n)
mouse
(Mus musculus)
Mammalia Rdx 33 16 34
  • 90.17 (n)
chicken
(Gallus gallus)
Aves RDX 33 34
  • 86.45 (n)
lizard
(Anolis carolinensis)
Reptilia RDX 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5935 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.20330 33
zebrafish
(Danio rerio)
Actinopterygii msna 33
  • 70.59 (n)
nf2b 34
  • 42 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2827 33
fruit fly
(Drosophila melanogaster)
Insecta Moe 35 34
  • 59 (a)
Mer 35
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea erm-1 35 34
  • 53 (a)
nfm-1 35
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6897 34
  • 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 Variation AA Info Type
rs114509945 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 110,230,786(-) C/T 3_prime_UTR_variant, intron_variant
rs121918379 pathogenic, Deafness, autosomal recessive 24, Deafness, autosomal recessive, 24 (DFNB24) [MIM:611022] 110,231,889(-) C/T coding_sequence_variant, missense_variant
rs121918380 pathogenic, Deafness, autosomal recessive 24 110,263,964(-) G/A coding_sequence_variant, intron_variant, stop_gained
rs138560358 uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive 110,233,413(-) G/A/C/T coding_sequence_variant, intron_variant, missense_variant
rs138942667 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 110,229,914(-) T/C 3_prime_UTR_variant, intron_variant

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

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

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 24
  • dfnb24
non-syndromic genetic deafness
  • isolated genetic deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
nonsyndromic deafness
  • nonsyndromic hearing loss
neurofibromatosis, type ii
  • nf2
- 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.

Additional Disease Information for RDX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SY … Riazuddin S (Human mutation 2007) 2 3 4 22 58
  2. Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes. (PMID: 8486357) Wilgenbus KK … Furthmayr H (Genomics 1993) 2 3 4 22 58
  3. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. (PMID: 19754948) Wolf C … Weisschuh N (BMC medical genetics 2009) 3 22 44 58
  4. Proteomic profiling in pancreatic cancer with and without lymph node metastasis. (PMID: 19152423) Cui Y … Han J (International journal of cancer 2009) 3 22 58
  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 58

Products for RDX Gene

Sources for RDX Gene

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