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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RDX
radixin
Chromosome 11 Β· 11q22.3
NCBI Gene: 5962Ensembl: ENSG00000137710.18HGNC: HGNC:9944UniProt: B0YJ88
214PubMed Papers
21Diseases
0Drugs
23Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615plasma membranepositive regulation of early endosome to late endosome transportregulation of organelle assemblyhearing loss, autosomal recessivenonsyndromic genetic hearing lossdeafnesshearing loss
✦AI Summary

Radixin (RDX) is a membrane-cytoskeletal linker protein that plays a crucial role in binding actin filaments to the plasma membrane and organizing cellular junctions. RDX is involved in multiple cellular processes including protein localization to the plasma membrane, regulation of adherens junction organization, and establishment of endothelial barriers 1. The protein is particularly important in vascular endothelial cells, where it participates in immune response and cell proliferation signaling pathways 1. RDX also functions in glucocorticoid-regulated actin cytoskeleton remodeling in the brain 2. In disease contexts, RDX expression and stability are dysregulated in gastric cancer. Intercellular adhesion molecule 2 (ICAM2) suppresses gastric cancer progression by promoting ubiquitination-mediated RDX degradation through the NEDD4L E3 ligase pathway, reducing RDX protein stability and expression 3. Additionally, RDX has been identified as a high-hazard prognostic gene in breast cancer PANoptosis-associated pathway analysis, where elevated RDX expression correlates with worse prognosis 1. RDX mutations are associated with autosomal recessive deafness (DFNB24), highlighting its essential role in stereocilium organization at the cellular periphery. Under hyperglycemic conditions affecting vascular smooth muscle cells, RDX expression is altered through NOTCH3/RANBP1 axis regulation 4.

Sources cited
1
RDX is explicitly expressed in arterial endothelial cells and involved in immune response and cell proliferation signaling; identified as prognostic gene in breast cancer PANoptosis pathway
PMID: 37455906
2
RDX is involved in glucocorticoid-regulated actin cytoskeleton organization in the brain
PMID: 29180230
3
ICAM2 promotes ubiquitination-mediated RDX degradation via NEDD4L to suppress gastric cancer progression
PMID: 37759298
4
RDX expression is significantly downregulated in vascular smooth muscle cells with NOTCH3 knockdown; part of NOTCH3/RANBP1 axis regulating autophagy under hyperglycemic stress
PMID: 40018934
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
hearing loss, autosomal recessiveOpen Targets
0.70Moderate
nonsyndromic genetic hearing lossOpen Targets
0.44Moderate
deafnessOpen Targets
0.42Moderate
hearing lossOpen Targets
0.37Weak
Non-syndromic genetic deafnessOpen Targets
0.37Weak
Rare genetic deafnessOpen Targets
0.34Weak
myocardial infarctionOpen Targets
0.33Weak
cervical carcinomaOpen Targets
0.33Weak
Abdominal Aortic AneurysmOpen Targets
0.30Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.28Weak
coronary artery diseaseOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.22Weak
angina pectorisOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
Hearing impairmentOpen Targets
0.15Weak
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
COVID-19Open Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
Deafness, autosomal recessive, 24UniProt
Pathogenic Variants23
NM_002906.4(RDX):c.1076_1079del (p.Ile359fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 24|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 359
NM_002906.4(RDX):c.1308del (p.Lys438fs)Pathogenic
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 24
β˜…β˜…β˜†β˜†2024β†’ Residue 438
NM_002906.4(RDX):c.930_931del (p.Glu311fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 311
NM_002906.4(RDX):c.219_220del (p.Asn74fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 74
NM_002906.4(RDX):c.295C>T (p.Gln99Ter)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 24
β˜…β˜†β˜†β˜†2024β†’ Residue 99
NM_002906.4(RDX):c.720del (p.Trp242fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 242
NM_002906.4(RDX):c.1180C>T (p.Arg394Ter)Likely pathogenic
Nonsyndromic genetic hearing loss
β˜…β˜†β˜†β˜†2023β†’ Residue 394
NM_002906.4(RDX):c.484_487del (p.His161_Lys162insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 161
NM_002906.4(RDX):c.1135C>T (p.Arg379Ter)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 24
β˜…β˜†β˜†β˜†2022β†’ Residue 379
NM_002906.4(RDX):c.910C>T (p.Gln304Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 304
NM_002906.4(RDX):c.1346del (p.Ala449fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 24
β˜…β˜†β˜†β˜†2021β†’ Residue 449
NM_002906.4(RDX):c.1141C>T (p.Arg381Ter)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 24
β˜…β˜†β˜†β˜†2021β†’ Residue 381
NM_002906.4(RDX):c.1108C>T (p.Arg370Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 24
β˜…β˜†β˜†β˜†2020β†’ Residue 370
NM_002906.4(RDX):c.513_514del (p.Arg171fs)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 24
β˜…β˜†β˜†β˜†2020β†’ Residue 171
NM_002906.4(RDX):c.129G>A (p.Trp43Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 24
β˜…β˜†β˜†β˜†2019β†’ Residue 43
NM_002906.4(RDX):c.-64-1215_12+348delLikely pathogenic
Autosomal recessive nonsyndromic hearing loss 24
β˜…β˜†β˜†β˜†2019
NM_002906.4(RDX):c.682_685del (p.Tyr228fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 228
NM_002906.4(RDX):c.467+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2017
NM_002906.4(RDX):c.698+1G>ALikely pathogenic
Autosomal recessive nonsyndromic hearing loss 24
β˜…β˜†β˜†β˜†
NM_002906.4(RDX):c.551+2T>CPathogenic
Autosomal recessive nonsyndromic hearing loss 24
β˜…β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
ARHGDIAProtein interaction100%ABCC2Protein interaction100%L1CAMProtein interaction100%MCF2Protein interaction100%NHERF2Protein interaction100%NHERF1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
83%
Liver
60%
Ovary
48%
Lung
43%
Bone Marrow
32%
Gene Interaction Network
Click a node to explore
RDXARHGDIAABCC2L1CAMMCF2NHERF2NHERF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P35241
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.54Moderately Constrained
pLIβ“˜
0.66Intermediate
Observed/Expected LoF0.39 [0.28–0.54]
RankingsWhere RDX stands among ~20K protein-coding genes
  • #1,940of 20,598
    Most Researched214 Β· top 10%
  • #2,036of 5,498
    Most Pathogenic Variants23
  • #3,432of 17,882
    Most Constrained (LOEUF)0.54 Β· top quartile
Genes detectedRDX
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Exploring PANoptosis in breast cancer based on scRNA-seq and bulk-seq.
PMID: 37455906
Front Endocrinol (Lausanne) Β· 2023
1.00
2
Glucocorticoids, genes and brain function.
PMID: 29180230
Prog Neuropsychopharmacol Biol Psychiatry Β· 2018
0.90
3
PMID: 33104323
0.80
4
A redefined InDel taxonomy provides insights into mutational signatures.
PMID: 40210680
Nat Genet Β· 2025
0.70
5
Podoplanin immunoexpression in odontogenic lesions: a systematic review, meta-analysis, and integrated bioinformatic analysis.
PMID: 39182093
Diagn Pathol Β· 2024
0.68