RDX - radixin Gene

Also Known as DFNB24

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5962

About RDX

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:110,174,922-110,296,614 (from NCBI)

This gene has 22 transcripts (splice variants), 268 orthologues, 6 paralogues and is associated with 2 phenotypes. Broad expression in adrenal (RPKM 86.1), lung (RPKM 29.5) and 23 other tissues.

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 version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

RDX Products (6)

mRNA	Protein	Name
NM_001260492.2	NP_001247421.1	radixin isoform 1
NM_001260493.2	NP_001247422.1	radixin isoform 1
NM_001260494.2	NP_001247423.1	radixin isoform 3
NM_001260495.2	NP_001247424.1	radixin isoform 4
NM_001260496.2	NP_001247425.1	radixin isoform 5
NM_002906.4	NP_002897.1	radixin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	17825285	GOA
enables actin binding	IDA IDA: Inferred from direct assay	17825285	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10806479	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in establishment of endothelial barrier	IGI IGI: Inferred from genetic interaction	23264465	GOA
involved in negative regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	22467863	GOA
involved in negative regulation of adherens junction organization	IMP IMP: Inferred from mutant phenotype	22467863	GOA
involved in negative regulation of cell size	IMP IMP: Inferred from mutant phenotype	22467863	GOA
involved in negative regulation of homotypic cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	22467863	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	22467863	GOA
involved in positive regulation of early endosome to late endosome transport	IGI IGI: Inferred from genetic interaction	21148287	GOA
involved in positive regulation of gene expression	IGI IGI: Inferred from genetic interaction	23264465	GOA
involved in positive regulation of protein catabolic process	IGI IGI: Inferred from genetic interaction	21148287	GOA
involved in positive regulation of protein localization to early endosome	IGI IGI: Inferred from genetic interaction	21148287	GOA
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	17825285	GOA
involved in regulation of GTPase activity	IGI IGI: Inferred from genetic interaction	22467863	GOA
involved in regulation of actin filament bundle assembly	IMP IMP: Inferred from mutant phenotype	22467863	GOA
involved in regulation of cell shape	IMP IMP: Inferred from mutant phenotype	22467863	GOA
involved in regulation of cell size	IGI IGI: Inferred from genetic interaction	22467863	GOA
involved in regulation of organelle assembly	IGI IGI: Inferred from genetic interaction	21148287	GOA
involved in regulation of ruffle assembly	IMP IMP: Inferred from mutant phenotype	22467863	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	17825285	GOA
located in cell periphery	IDA IDA: Inferred from direct assay	22291017	GOA
colocalizes with focal adhesion	IDA IDA: Inferred from direct assay	21282464	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RDX Protein Structure

FERM_N

FERM_M

FERM_C

ERM

0
100
200
300
400
500
583 a.a.

Protein Preferred Names	Protein Names
radixin

RDX Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RDX	P35241	KIRREL3	Homo sapiens	Q8IZU9	FPS	34799561
Cross	RDX	P35241	P0DTD1-PRO_0000449630	SARS-CoV-2	P0DTD1-PRO_0000449630	Y2H Array	36217030

Cross: Cross-species interaction Intra: Intraspecies interaction

RDX Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82065	Radixin Antibody (YA1810)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat
HY-P82065A	Radixin Antibody (YA1810)(PBS only)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 24	DFNB24 Deafness, Autosomal Recessive, 24 Autosomal Recessive Nonsyndromic Deafness 24 Autosomal Recessive Deafness 24 Deafness, Autosomal Recessive, Type 24
Rare Genetic Deafness	Rare Genetic Hearing Loss
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Acoustic Neuroma	Neurofibromatosis Type 2 Vestibular Schwannoma Acoustic Neurinoma Bilateral Acoustic Neurofibromatosis Nf2 Acoustic Neurilemoma Cerebellopontine Angle Tumor Neurofibromatosis Central Type Neurofibromatosis Type Ii Vestibular Neurilemmoma Acoustic Tumor Neurinoma Of The Acoustic Nerve Acoustic Neurinoma Bilateral Acoustic Schwannomas Bilateral Banf Central Neurofibromatosis Familial Acoustic Neuromas Neurofibromatosis 2 Neurofibromatosis Type 2 Merlin Schwannoma, Acoustic, Bilateral Neuroma Acoustic Neuroma, Acoustic Familial Acoustic Neuroma Familial Vestibular Schwannoma Neurofibromatosis, Central Type Nf2 - [Neurofibromatosis Type 2]
Neurilemmoma	Schwannoma Benign Schwannoma Neurilemoma Peripheral Fibroblastoma Psammomatous Schwannoma Neurolemmoma Schwannomas
Neurofibromatosis, Type Ii	Neurofibromatosis 2 Neurofibromatosis, Type 2 NF2 Neurofibromatosis Type Ii Bilateral Acoustic Neurofibromatosis Banf Acn Central Neurofibromatosis Neurofibromatosis, Central Type Acoustic Schwannomas, Bilateral Acoustic Neurinoma, Bilateral Bilateral Acoustic Neurinoma Bilateral Acoustic Schwannomas Familial Acoustic Neuromas
Kindler Syndrome	Poikiloderma Of Kindler Bullous Acrokeratotic Poikiloderma Of Kindler And Weary Congenital Bullous Poikiloderma KNDLRS Poikiloderma, Hereditary Acrokeratotic Poikiloderma, Congenital, With Bullae, Weary Type Kindler'S Syndrome Poikiloderma Congenital With Bullae Weary Type Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary Hereditary Acrokeratotic Poikiloderma Weary Syndrome Poikiloderma Hereditary Acrokeratotic Potassium Deficiency
Immunodeficiency 50	Combined Immunodeficiency Due To Moesin Deficiency IMD50 Immunodeficiency 50, X-Linked Recessive Cid Due To Moesin Deficiency Msn-Related Combined Immunodeficiency X-Linked Moesin-Associated Immunodeficiency Immunodeficiency 50 X Linked Recessive
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
Neurofibromatosis	Neurofibromatoses Acoustic Neurofibromatosis Central Neurofibromatosis Peripheral Neurofibromatosis Recklinghausen'S Neurofibromatosis Von Reklinghausen Disease Neurofibromatosis Type 1
Leukocyte Adhesion Deficiency, Type Iii	Leukocyte Adhesion Deficiency 3 LAD3 Leukocyte Adhesion Deficiency 1 Variant Lad1v Integrin Activation Deficiency Disease Iadd Leukocyte Adhesion Deficiency Type Iii Lad1 Variant Lad-1 Variant Lad-Iii Leukocyte Adhesion Deficiency-1 Variant Leukocyte Adhesion Deficiency Type 1
Pathologic Nystagmus	Nystagmus
Petrous Apex Meningioma	Meningioma Of The Petrous Ridge
Microphthalmia, Isolated 6	Isolated Microphthalmia 6 MCOP6 Microphthalmia, Posterior Nonsyndromic Posterior Nonsyndromic Microphthalmia Microphthalmia, Isolated, 6 Autosomal Recessive Posterior Microphthalmos Posterior Non-Syndromic Microphthalmia Microphthalmia, Isolated, Type 6
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Neurilemmomatosis	Schwannomatosis Neurofibromatosis Type 3 Nf3 Neurilemmomatosis Congenital Cutaneous Neurinomatosis Congenital Cutaneous Neurilemmomatosis Multiple Neurilemmomas Multiple Schwannomas Neurilemmomatosis, Congenital Cutaneous Schwannomatosis 1 Neurofibromatosis 3 Mixed Central And Peripheral Neurofibromatosis Nf3 - [Neurofibromatosis Type 3]
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Nanophthalmos	Nanophthalmia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15991	Tenapanor	Inhibitor	99.65%	Unkown
HY-15991A	Tenapanor hydrochloride	Inhibitor	99.55%	Unkown

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13631J	(1R,9R)-Exatecan mesylate		99.49%	Unkown
HY-13631I	(1S,9R)-Exatecan mesylate		99.11%	Unkown
HY-P2800	Diaphorase, Recombinant microorganisms		/	Unkown
HY-RS11806	RDX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18121	Rdx Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24595	Rdx Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RDX	VGNC	VGNC:45455
Mus musculus	RDX	MGD	MGI:97887
Rattus norvegicus	RDX	RGD	RGD:1359472
Macaca mulatta	RDX	VGNC	VGNC:76888
Bos taurus	RDX	VGNC	VGNC:33845
Felis catus	RDX	VGNC	VGNC:69279
Others	RDX	NCBI