RDX - radixin Gene

Homo sapiens

Also known as DFNB24

Gene ID: 5962 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15991	Tenapanor	Inhibitor	99.65%	Unkown
HY-15991A	Tenapanor hydrochloride	Inhibitor	98.71%	Unkown

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13631J	(1R,9R)-Exatecan mesylate		99.94%	Unkown
HY-13631I	(1S,9R)-Exatecan mesylate		98.23%	Unkown
HY-P2800	Diaphorase, Recombinant microorganisms		/	Unkown
HY-RS11806	RDX Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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