RDX (radixin)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5962
Gene name Gene Name - the full gene name approved by the HGNC.
Radixin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RDX
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB24
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q22.3
Summary Summary of gene provided in NCBI Entrez 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 ver
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1656)
miRTarBase ID miRNA Experiments Reference
MIRT004979 hsa-miR-31-5p Luciferase reporter assay, qRT-PCR, Western blot 19524507
MIRT004979 hsa-miR-31-5p Luciferase reporter assay, qRT-PCR, Western blot 19524507
MIRT006807 hsa-miR-409-3p Luciferase reporter assay, qRT-PCR, Western blot 22179828
MIRT032442 hsa-let-7b-5p Proteomics 18668040
MIRT051447 hsa-let-7e-5p CLASH 23622248
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
CREB5 Repression 21132541
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
179410 9944 ENSG00000137710
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Tight junction
Regulation of actin cytoskeleton
Proteoglycans in cancer
MicroRNAs in cancer 		  Recycling pathway of L1
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal recessive nonsyndromic hearing loss 24 rs1591158999, rs121918379, rs1372141763, rs121918380, rs1191259480, rs727504709 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hearing Loss Hearing loss, autosomal recessive N/A N/A ClinVar
Psoriasis Psoriasis N/A N/A GWAS
Psoriasis vulgaris Psoriasis vulgaris N/A N/A GWAS
Show/Hide Text Mining Associations (27)
Associations from Text Mining Disease 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