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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (9 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonsyndromic genetic hearing loss Likely pathogenic rs756407279 RCV004018252
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness Pathogenic rs727504709 RCV000155993
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL ULCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11092524, 16142420
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 25801911
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31989994 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Arthritis BEFREE 25331966
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 24854655 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 32469254 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Bartter Syndrome Type 4A Bartter syndrome Pubtator 29986705 Associate
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary Atresia BEFREE 23507543
★☆☆☆☆
Found in Text Mining only