Gene Gene information from NCBI Gene database.
Entrez ID 5962
Gene name Radixin
Gene symbol RDX
Synonyms (NCBI Gene)
DFNB24
Chromosome 11
Chromosome location 11q22.3
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 ver
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs121918379 C>T Pathogenic Coding sequence variant, missense variant
rs121918380 G>A Pathogenic Coding sequence variant, stop gained, intron variant
rs727504709 C>- Pathogenic Coding sequence variant, intron variant, frameshift variant
rs1057520174 C>T Likely-pathogenic Intron variant, splice donor variant
rs1191259480 C>T Pathogenic Splice donor variant, intron variant
miRNA miRNA information provided by mirtarbase database.
1656
miRTarBase ID miRNA Experiments Reference
MIRT004979 hsa-miR-31-5p Luciferase reporter assayqRT-PCRWestern blot 19524507
MIRT004979 hsa-miR-31-5p Luciferase reporter assayqRT-PCRWestern blot 19524507
MIRT006807 hsa-miR-409-3p Luciferase reporter assayqRT-PCRWestern blot 22179828
MIRT032442 hsa-let-7b-5p Proteomics 18668040
MIRT051447 hsa-let-7e-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CREB5 Repression 21132541
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
87
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003779 Function Actin binding IBA
GO:0003779 Function Actin binding IDA 17825285
GO:0003779 Function Actin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179410 9944 ENSG00000137710
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35241
Protein name Radixin
Protein function Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N 9 71 FERM N-terminal domain Domain
PF00373 FERM_M 88 206 FERM central domain Domain
PF09380 FERM_C 210 299 FERM C-terminal PH-like domain Domain
PF00769 ERM 338 583 Ezrin/radixin/moesin family Coiled-coil
Sequence
Sequence length 583
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Tight junction
Regulation of actin cytoskeleton
Proteoglycans in cancer
MicroRNAs in cancer
  Recycling pathway of L1
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
144
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive nonsyndromic hearing loss 24 Likely pathogenic; Pathogenic rs1308348441, rs772146113, rs2134364635, rs2134302220, rs727504709, rs779134450, rs121918379, rs1372141763, rs121918380, rs1191259480, rs2539441210, rs1591158999, rs1463925107, rs1412883921 RCV001783677
RCV001807970
RCV001809329
RCV002271980
RCV004760401
RCV003337721
RCV000014072
RCV000014073
RCV000014074
RCV000014075
RCV003984993
RCV000790510
RCV001262022
RCV001375666
Nonsyndromic genetic hearing loss Likely pathogenic rs756407279 RCV004018252
Rare genetic deafness Pathogenic rs727504709 RCV000155993
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Conflicting classifications of pathogenicity; Uncertain significance rs144543614, rs200525150 RCV005888360
RCV005929236
Hearing impairment Uncertain significance rs1030064754, rs752091940 RCV001375311
RCV001375399
Hearing loss, autosomal recessive Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs886047634, rs1555036360, rs886047639, rs61030269, rs780363505, rs368429159, rs61003001, rs1555036332, rs886047638, rs372282092, rs377537657, rs35381725, rs144848373, rs149832663, rs886047636
View all (4 more)
RCV004577785
RCV004577795
RCV004577790
RCV004577796
RCV004577791
RCV004577797
RCV004577794
RCV004577798
RCV004577806
RCV004577807
RCV004577786
RCV004577789
RCV004577793
RCV004577799
RCV004577802
RCV004577803
RCV004577805
RCV004577784
RCV004577787
RCV004577792
RCV004577800
RCV004577801
RCV004577808
RCV004577788
RCV004577804
RCV004577809
RDX-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity rs376917034, rs532650829, rs142773831, rs1057232085, rs1864658406, rs368983071, rs192239366, rs375047913, rs74983220, rs202177331 RCV003921231
RCV003907482
RCV004757192
RCV003901548
RCV003977033
RCV003942122
RCV003967865
RCV003962797
RCV003934913
RCV003938445
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Bronchiolo Alveolar Inhibit 11092524
Adenocarcinoma of Lung Inhibit 11092524
Alzheimer Disease Associate 31989994
Arthritis Rheumatoid Associate 24854655
Atherosclerosis Associate 32469254
Bartter Syndrome Type 4A Associate 29986705
Breast Neoplasms Associate 23339187, 26938523, 32028690, 37455906
Colorectal Neoplasms Associate 20406101
Colorectal Neoplasms Stimulate 25136657
Hearing Loss Associate 31250571