RDX Gene (Radixin)
RDX: Radixin - A Key ERM Protein in Cell Signaling and Cancer
Gene Information Card
| Symbol | RDX |
|---|---|
| Full Name | Radixin |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.3 |
| NCBI Gene ID | 5962 ncbi.nlm.nih.gov/gene/5962 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | P35241 |
| OMIM ID | 179410 |
| HGNC ID | 9944 |
| Aliases | DFNB24, radixin |
Description
The RDX gene encodes radixin, a member of the ERM (ezrin, radixin, moesin) family of proteins that link the actin cytoskeleton to the plasma membrane. Radixin is involved in cell adhesion, migration, and signal transduction. Mutations in RDX are associated with autosomal recessive nonsyndromic hearing loss (DFNB24) and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB24) | Loss-of-function mutations in RDX disrupt hair cell stereocilia structure | OMIM #179410; ClinVar |
| Hepatocellular carcinoma | Altered radixin expression affects cell adhesion and invasion | COSMIC; NCBI Gene |
| Breast cancer | Radixin overexpression linked to metastasis and poor prognosis | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.7 | Low |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 7.4 | Lung carcinoma cell line |
| HEK293 | 6.1 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42Ter) | Nonsense | Rare | Loss of function; associated with DFNB24 |
| c.544G>A (p.Gly182Arg) | Missense | Rare | Likely pathogenic; hearing loss |
| c.1072C>T (p.Arg358Cys) | Missense | 0.001% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in RDX cause loss of radixin function, leading to hearing loss (DFNB24).
Gain of Function (GOF)
Not well documented; overexpression in cancers may contribute to oncogenic signaling.
Dominant Negative (DN)
No dominant-negative mutations reported for RDX.
View complete mutation data：
Gene Ontology (GO)
| • actin filament binding | • cell adhesion |
| • cytoskeleton organization | • signal transduction |
| • plasma membrane |
Pathways
• ERM protein signaling
• Cell adhesion molecules (CAMs)
• Actin cytoskeleton regulation
Protein Summary
Radixin is a 583-amino acid protein (UniProt P35241) that crosslinks actin filaments with membrane proteins. It contains an N-terminal FERM domain and a C-terminal actin-binding domain. Radixin is involved in cell shape regulation, cell motility, and signal transduction. Mutations cause hearing loss, and altered expression is observed in cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RDX Knockout HEK293 Cell Line | EDJ-KQ3400 | Human | 5962 | Details Get a Quote |
| RDX Knockout A-549 Cell Line | EDJ-KQ25097 | Human | 5962 | Details Get a Quote |
| RDX Knockout HeLa Cell Line | EDJ-KQ25099 | Human | 5962 | Details Get a Quote |
| RDX Knockout HCT 116 Cell Line | EDJ-KQ23711 | Human | 5962 | Details Get a Quote |
