RIPOR2 - RHO family interacting cell polarization regulator 2 Gene

中文名称：RHO 家族相互作用细胞极化调节器 2

种属: Homo sapiens

同用名: PL48; DFNA21; DIFF40; DIFF48; FAM65B; MYONAP; C6orf32; DFNB104

基因 ID: 9750 | 基因类型: protein coding

关于 RIPOR2

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:24,804,284-25,042,168 (from NCBI)

This gene has 17 transcripts (splice variants), 214 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in lymph node (RPKM 23.2), spleen (RPKM 16.0) and 11 other tissues.

功能概要

该基因编码小 G 蛋白 RhoA 的非典型抑制剂。编码蛋白对 RhoA 活性的抑制介导成肌细胞融合以及 T 细胞和嗜中性粒细胞的极化。编码的蛋白质是毛细胞静纤毛的组成部分，对听力至关重要。该基因的剪接位点突变会导致人类患者听力丧失。[RefSeq 提供，2016 年 9 月]

This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]

RIPOR2 基因产物(7)

mRNA	Protein	Name
NM_001286445.3	NP_001273374.1	rho family-interacting cell polarization regulator 2 isoform 3
NM_001286446.3	NP_001273375.1	rho family-interacting cell polarization regulator 2 isoform 4
NM_001286447.2	NP_001273376.1	rho family-interacting cell polarization regulator 2 isoform 5
NM_001346031.2	NP_001332960.1	rho family-interacting cell polarization regulator 2 isoform 6
NM_001346032.2	NP_001332961.1	rho family-interacting cell polarization regulator 2 isoform 6
NM_014722.5	NP_055537.2	rho family-interacting cell polarization regulator 2 isoform 1
NM_015864.5	NP_056948.2	rho family-interacting cell polarization regulator 2 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 14-3-3 protein binding	IDA IDA: 通过直接分析推断	24687993	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21988832	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to chemokine	IDA IDA: 通过直接分析推断	23241886	GOA
involved in negative regulation of Rho guanyl-nucleotide exchange factor activity	IMP IMP: 通过突变表型推断	23241886	GOA
involved in negative regulation of Rho protein signal transduction	IMP IMP: 通过突变表型推断	23241886	GOA
involved in negative regulation of T cell migration	IMP IMP: 通过突变表型推断	23241886	GOA
involved in negative regulation of T cell proliferation	IMP IMP: 通过突变表型推断	27556504	GOA
involved in negative regulation of cell adhesion	IMP IMP: 通过突变表型推断	23241886	GOA
involved in negative regulation of establishment of T cell polarity	IMP IMP: 通过突变表型推断	23241886	GOA
involved in positive regulation of filopodium assembly	IMP IMP: 通过突变表型推断	17150207	GOA
involved in positive regulation of myoblast differentiation	IMP IMP: 通过突变表型推断	17150207	GOA
involved in positive regulation of myoblast fusion	IMP IMP: 通过突变表型推断	17150207	GOA
involved in regulation of cell cycle	IMP IMP: 通过突变表型推断	27556504	GOA
involved in regulation of mitotic spindle assembly	IMP IMP: 通过突变表型推断	27556504	GOA
acts upstream of or within sensory perception of sound	IMP IMP: 通过突变表型推断	24958875	GOA
involved in sensory perception of sound	IMP IMP: 通过突变表型推断	24958875	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	17150207	GOA
located in cytoskeleton	IDA IDA: 通过直接分析推断	17150207	GOA
located in filopodium	IDA IDA: 通过直接分析推断	17150207	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

蛋白主名

其他名称

rho family-interacting cell polarization regulator 2

family with sequence similarity 65 member B

关联疾病

疾病名称

别名

Deafness, Autosomal Recessive 104

DFNB104	Autosomal Recessive Nonsyndromic Deafness 104
Autosomal Recessive Deafness 104	Deafness, Autosomal Recessive, 104
Deafness, Autosomal Recessive, Type 104

Deafness, Autosomal Dominant 21

DFNA21	Autosomal Dominant Nonsyndromic Deafness 21
Autosomal Dominant Deafness 21	Deafness, Autosomal Dominant, 21

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

Deafness, Autosomal Recessive 44

DFNB44	Autosomal Recessive Nonsyndromic Deafness 44
Autosomal Recessive Deafness 44	Deafness, Autosomal Recessive, 44
Deafness, Autosomal Recessive, Type 44

Deafness, Autosomal Recessive 110

DFNB110	Autosomal Recessive Nonsyndromic Deafness 110
Autosomal Recessive Deafness 110	Deafness, Autosomal Recessive, 110

Dyslexia

Deafness, Autosomal Dominant 17

DFNA17	Autosomal Dominant Nonsyndromic Deafness 17
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17	Autosomal Dominant Deafness 17
Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration	Nonsyndromic Hereditary Deafness Dfna17
Deafness, Autosomal Dominant, 17	Cochleosaccular Degeneration
Deafness, Autosomal Dominant, Type 17	Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts

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

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

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	Phase
HY-112038A	GSK2983559	Inhibitor	98.82%	Phase 1
HY-19764	GSK2983559 active metabolite	Inhibitor	98.81%	Phase 1
HY-112038	GSK2983559 free acid	Inhibitor	99.90%	Phase 1

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-100339	GSK583	Inhibitor	98.74%	否
HY-111870	PROTAC RIPK degrader-6	Inhibitor	99.97%	否
HY-112907	RIP2 Kinase Inhibitor 3	Inhibitor	99.82%	否
HY-19761	RIP2 kinase inhibitor 2	Inhibitor	99.69%	否
HY-133014	RIP2 kinase inhibitor 1	Inhibitor	/	否
HY-136010	RIP2 Kinase Inhibitor 4	Inhibitor	/	否
HY-147235	RIPK2-IN-2	Inhibitor	/	否
HY-RS12002	RIPOR2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-118316	GSK223	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	RIPOR2	RGD	RGD:1306939
Felis catus	RIPOR2	VGNC	VGNC:64643
Bos taurus	RIPOR2	VGNC	VGNC:54232
Macaca mulatta	RIPOR2	VGNC	VGNC:76730
Canis familiaris	RIPOR2	VGNC	VGNC:45597
Mus musculus	RIPOR2	MGD	MGI:2444879

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

RIPOR2 - RHO family interacting cell polarization regulator 2 Gene

关于 RIPOR2

功能概要

RIPOR2 基因产物(7)

关联疾病

直系同源

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RIPOR2 - RHO family interacting cell polarization regulator 2 Gene

关于 RIPOR2

功能概要

RIPOR2 基因产物(7)

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z