ARHGEF2 - Rho/Rac guanine nucleotide exchange factor 2 Gene

中文名称：Rho/Rac 鸟嘌呤核苷酸交换因子 2

种属: Homo sapiens

同用名: GEF; Lfc; P40; GEFH1; LFP40; GEF-H1; NEDMHM

基因 ID: 9181 | 基因类型: protein coding

关于 ARHGEF2

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,946,854-155,979,617 (from NCBI)

This gene has 21 transcripts (splice variants), 263 orthologues, 8 paralogues and is associated with 1 phenotype. Ubiquitous expression in lung (RPKM 15.7), spleen (RPKM 12.3) and 24 other tissues.

功能概要

Rho GTP 酶在许多细胞过程中起着重要作用，这些过程由通过 G 蛋白偶联受体起作用的细胞外刺激物启动。编码的蛋白质可能与 G 蛋白形成复合物并刺激 rho 依赖性信号。已经识别出编码不同亚型的可变剪接转录本变体。[RefSeq 提供，2009 年 6 月]

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]

ARHGEF2 基因产物(6)

mRNA	Protein	Name
NM_001162383.2	NP_001155855.1	rho guanine nucleotide exchange factor 2 isoform 1
NM_001162384.2	NP_001155856.1	rho guanine nucleotide exchange factor 2 isoform 2
NM_001350110.2	NP_001337039.1	rho guanine nucleotide exchange factor 2 isoform 4
NM_001350111.2	NP_001337040.1	rho guanine nucleotide exchange factor 2 isoform 4
NM_001350112.2	NP_001337041.1	rho guanine nucleotide exchange factor 2 isoform 5
NM_004723.4	NP_004714.2	rho guanine nucleotide exchange factor 2 isoform 3

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 guanyl-nucleotide exchange factor activity	IDA IDA: 通过直接分析推断	9857026	GOA
enables microtubule binding	IDA IDA: 通过直接分析推断	9857026	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	14970201	GOA
enables small GTPase binding	IDA IDA: 通过直接分析推断	9857026	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in actin filament organization	IMP IMP: 通过突变表型推断	9857026	GOA
involved in asymmetric neuroblast division	IDA IDA: 通过直接分析推断	28453519	GOA
involved in cell morphogenesis	IMP IMP: 通过突变表型推断	11912491	GOA
involved in cellular response to muramyl dipeptide	IDA IDA: 通过直接分析推断	21887730	GOA
involved in negative regulation of microtubule depolymerization	IMP IMP: 通过突变表型推断	11912491	GOA
involved in positive regulation of NF-kappaB transcription factor activity	IDA IDA: 通过直接分析推断	19043560	GOA
involved in positive regulation of interleukin-6 production	IDA IDA: 通过直接分析推断	21887730	GOA
involved in positive regulation of neuron differentiation	IDA IDA: 通过直接分析推断	28453519	GOA
involved in positive regulation of peptidyl-tyrosine phosphorylation	IDA IDA: 通过直接分析推断	21887730	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	21887730	GOA
involved in positive regulation of tumor necrosis factor production	IDA IDA: 通过直接分析推断	21887730	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	21887730	GOA
located in cytoskeleton	IDA IDA: 通过直接分析推断	21887730	GOA
located in microtubule	IDA IDA: 通过直接分析推断	9857026	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	21887730	GOA
located in ruffle membrane	IDA IDA: 通过直接分析推断	19043560	GOA
located in vesicle	IDA IDA: 通过直接分析推断	21887730	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

ARHGEF2 蛋白结构

RhoGEF

0
200
400
600
800
986 a.a.

蛋白主名

其他名称

rho guanine nucleotide exchange factor 2

Rho/Rac guanine nucleotide exchange factor (GEF) 2

ARHGEF2 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	ARHGEF2	Q92974	RPP25L	Homo sapiens	Q8N5L8	Validated Y2H	25416956
种属内	ARHGEF2	Q92974	RPP25L	Homo sapiens	Q8N5L8	Y2H Array	31515488
种属内	ARHGEF2	Q92974	FOXO3	Homo sapiens	O43524	Pull Down	25609649
种属内	ARHGEF2	Q92974	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
种属内	ARHGEF2	Q92974	YWHAZ	Homo sapiens	P63104	CoIP	14970201
种属内	ARHGEF2	Q92974	YWHAE	Homo sapiens	P62258	Crosslink	36931259

种属间: 跨种属相互作用 种属内: 同种属相互作用

ARHGEF2 抗体

目录号	产品名	应用	反应物种
HY-P82132	GEF H1 Antibody (YA1877)	WB, ICC/IF, FC	Human, Mouse, Rat

关联疾病

疾病名称

别名

Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations

NEDMHM

Aarskog-Scott Syndrome

Aarskog Syndrome	Faciogenital Dysplasia
Faciodigitogenital Syndrome	AAS
Fgdy	X-Linked Aarskog Syndrome
Intellectual Developmental Disorder, X-Linked, Syndromic 16	Aarskog Syndrome, X-Linked
Intellectual Developmental Disorder, X-Linked Syndromic 16	Greig'S Syndrome
Aarskog Scott Syndrome	Aarskog Disease
Scott Aarskog Syndrome	Facio-Digito-Genital Dysplasia
Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder	Aarskog-Scott Syndrome ) Syndrome

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Crohn'S Disease

Crohn Disease	Pediatric Crohn'S Disease
Regional Enteritis	Crohn'S Disease Of Large Bowel
Granulomatous Colitis	Enteritis, Granulomatous
Enteritis	Crohn'S Disease Of Colon
Colitis, Granulomatous	Crohn'S Enteritis
Enteritis, Regional	Ileitis
Adenoviral Enteritis	Acute Gastroenteropathy Due To Norwalk Agent
Viral Gastroenteritis Due To Norwalk Agent	Winter Vomiting
Epidemic Winter Vomiting Disease	Small Round Structured Virus Enteritis
Epidemic Vomiting Syndrome	Epidemic Vomiting
Epidemic Nausea	Epidemic Viral Gastroenteritis Due To Norwalk Virus
Noroviral Enteritis	Crohn Disease Nos
Crohns	Cd - [Crohn'S Disease]
Regional Enteritis Of Bowel	Crohn'S Regional Enteritis
Cobble-Stone Appearance Of Intestine	Intestinal Ulcer And Erosion Due To Crohn Disease
Granulomatous Enteritis

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00954	ARHGEF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	ARHGEF2	VGNC	VGNC:70013
Bos taurus	ARHGEF2	VGNC	VGNC:26111
Mus musculus	ARHGEF2	MGD	MGI:103264
Canis familiaris	ARHGEF2	VGNC	VGNC:38080
Felis catus	ARHGEF2	VGNC	VGNC:68143
Rattus norvegicus	ARHGEF2	RGD	RGD:1304659

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