RDX - radixin Gene

中文名称：根素

种属: Homo sapiens

同用名: DFNB24

基因 ID: 5962 | 基因类型: protein coding

关于 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.

功能概要

Radixin 是一种细胞骨架蛋白，可能对连接肌动蛋白和质膜很重要。它在序列上与 ezrin 和 moesin 高度相似。 radixin 基因已通过荧光原位杂交定位到 11q23。代表假基因 (RDXP2) 的截断版本被分配给 Xp21.3。另一个似乎缺少内含子的假基因 (RDXP1) 通过 Southern 和 PCR 分析被定位到 11p。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2012 年 5 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables ATPase binding	IPI IPI: 通过物理相互作用推断	17825285	GOA
enables actin binding	IDA IDA: 通过直接分析推断	17825285	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10806479	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in establishment of endothelial barrier	IGI IGI: 通过遗传相互作用推断	23264465	GOA
involved in negative regulation of GTPase activity	IMP IMP: 通过突变表型推断	22467863	GOA
involved in negative regulation of adherens junction organization	IMP IMP: 通过突变表型推断	22467863	GOA
involved in negative regulation of cell size	IMP IMP: 通过突变表型推断	22467863	GOA
involved in negative regulation of homotypic cell-cell adhesion	IMP IMP: 通过突变表型推断	22467863	GOA
involved in positive regulation of cell migration	IMP IMP: 通过突变表型推断	22467863	GOA
involved in positive regulation of early endosome to late endosome transport	IGI IGI: 通过遗传相互作用推断	21148287	GOA
involved in positive regulation of gene expression	IGI IGI: 通过遗传相互作用推断	23264465	GOA
involved in positive regulation of protein catabolic process	IGI IGI: 通过遗传相互作用推断	21148287	GOA
involved in positive regulation of protein localization to early endosome	IGI IGI: 通过遗传相互作用推断	21148287	GOA
involved in protein localization to plasma membrane	IMP IMP: 通过突变表型推断	17825285	GOA
involved in regulation of GTPase activity	IGI IGI: 通过遗传相互作用推断	22467863	GOA
involved in regulation of actin filament bundle assembly	IMP IMP: 通过突变表型推断	22467863	GOA
involved in regulation of cell shape	IMP IMP: 通过突变表型推断	22467863	GOA
involved in regulation of cell size	IGI IGI: 通过遗传相互作用推断	22467863	GOA
involved in regulation of organelle assembly	IGI IGI: 通过遗传相互作用推断	21148287	GOA
involved in regulation of ruffle assembly	IMP IMP: 通过突变表型推断	22467863	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in apical plasma membrane	IDA IDA: 通过直接分析推断	17825285	GOA
located in cell periphery	IDA IDA: 通过直接分析推断	22291017	GOA
colocalizes with focal adhesion	IDA IDA: 通过直接分析推断	21282464	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

RDX 蛋白结构

FERM_N

FERM_M

FERM_C

ERM

0
100
200
300
400
500
583 a.a.

蛋白主名

其他名称

radixin

RDX 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	RDX	P35241	KIRREL3	Homo sapiens	Q8IZU9	FPS	34799561
种属间	RDX	P35241	P0DTD1-PRO_0000449630	SARS-CoV-2	P0DTD1-PRO_0000449630	Y2H Array	36217030

种属间: 跨种属相互作用 种属内: 同种属相互作用

RDX 抗体

目录号	产品名	应用	反应物种
HY-P82065	Radixin Antibody (YA1810)	WB, IHC-P, IP	Human, Mouse, Rat

关联疾病

疾病名称

别名

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

疾病名称	别名
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

目录号	产品名	作用方式	纯度	是否罕见病
HY-15991	Tenapanor	Inhibitor	99.65%	否
HY-15991A	Tenapanor hydrochloride	Inhibitor	98.71%	否

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-13631J	(1R,9R)-Exatecan mesylate		99.94%	否
HY-13631I	(1S,9R)-Exatecan mesylate		98.23%	否
HY-P2800	Diaphorase, Recombinant microorganisms		/	否
HY-RS11806	RDX Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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