RAPGEF2 - Rap guanine nucleotide exchange factor 2 Gene

中文名称：Rap 鸟嘌呤核苷酸交换因子 2

种属: Homo sapiens

同用名: RAGEF; RA-GEF; NRAPGEP; PDZGEF1; Rap-GEP; CNrasGEF; PDZ-GEF1; RA-GEF-1; nRap GEP

基因 ID: 9693 | 基因类型: protein coding

关于 RAPGEF2

Cytogenetic location: 4q32.1 Genomic coordinates (GRCh38): 4:159,103,079-159,360,173 (from NCBI)

This gene has 16 transcripts (splice variants), 209 orthologues, 24 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 13.6), bone marrow (RPKM 11.0) and 25 other tissues.

功能概要

GTP 酶的 Ras 成员 (参见 HRAS；MIM 190020) 在信号转导中发挥作用，作为 GTP/GDP 调节开关，在不活跃的 GDP 和活跃的 GTP 结合状态之间循环。鸟嘌呤核苷酸交换因子 (GEF) ，如 RAPGEF2，通过促进 GTP 的获取以维持活性 GTP 结合状态作为 Ras 激活剂，并且是细胞表面受体和 Ras 激活之间的关键联系 (Rebhun 等人，2000 [PubMed 10934204]) .[OMIM 提供，2008 年 3 月]

Members of the Ras (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as Ras activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and Ras activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]

RAPGEF2 基因产物(7)

mRNA	Protein	Name
NM_001351724.5	NP_001338653.1	rap guanine nucleotide exchange factor 2 isoform 1
NM_001351725.2	NP_001338654.1	rap guanine nucleotide exchange factor 2 isoform 2
NM_001351726.3	NP_001338655.1	rap guanine nucleotide exchange factor 2 isoform 2
NM_001351727.4	NP_001338656.1	rap guanine nucleotide exchange factor 2 isoform 3
NM_001351728.4	NP_001338657.1	rap guanine nucleotide exchange factor 2 isoform 4
NM_001394067.2	NP_001380996.1	rap guanine nucleotide exchange factor 2 isoform 6
NM_014247.5	NP_055062.1	rap guanine nucleotide exchange factor 2 isoform 5

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 GTPase activator activity	IDA IDA: 通过直接分析推断	10934204	GOA
enables PDZ domain binding	IDA IDA: 通过直接分析推断	10548487	GOA
enables WW domain binding	IDA IDA: 通过直接分析推断	10548487	GOA
enables beta-1 adrenergic receptor binding	IDA IDA: 通过直接分析推断	12391161	GOA
NOT enables cAMP binding	IDA IDA: 通过直接分析推断	10548487	GOA
enables cAMP binding	IDA IDA: 通过直接分析推断	10801446	GOA
NOT enables cGMP binding	IDA IDA: 通过直接分析推断	10608844	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: 通过直接分析推断	10608883	GOA
enables phosphatidic acid binding	IDA IDA: 通过直接分析推断	22797597	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10548487	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in G protein-coupled receptor signaling pathway	IDA IDA: 通过直接分析推断	23800469	GOA
involved in Rap protein signal transduction	IMP IMP: 通过突变表型推断	21840392	GOA
involved in adenylate cyclase-activating adrenergic receptor signaling pathway	IDA IDA: 通过直接分析推断	12391161	GOA
involved in cAMP-mediated signaling	IDA IDA: 通过直接分析推断	23800469	GOA
involved in cellular response to cAMP	IDA IDA: 通过直接分析推断	10801446	GOA
involved in cellular response to cGMP	IDA IDA: 通过直接分析推断	10801446	GOA
involved in establishment of endothelial barrier	IMP IMP: 通过突变表型推断	21840392	GOA
involved in establishment of endothelial intestinal barrier	IMP IMP: 通过突变表型推断	23885123	GOA
involved in microvillus assembly	IGI IGI: 通过遗传相互作用推断	22797597	GOA
involved in negative regulation of cell population proliferation	IDA IDA: 通过直接分析推断	16272156	GOA
involved in negative regulation of dendrite morphogenesis	IDA IDA: 通过直接分析推断	16272156	GOA
involved in neuron projection development	IDA IDA: 通过直接分析推断	23800469	GOA
involved in neuropeptide signaling pathway	IDA IDA: 通过直接分析推断	23800469	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IDA IDA: 通过直接分析推断	16272156	GOA
involved in positive regulation of GTPase activity	IDA IDA: 通过直接分析推断	10548487	GOA
involved in positive regulation of GTPase activity	IMP IMP: 通过突变表型推断	21840392	GOA
involved in positive regulation of cAMP-dependent protein kinase activity	IDA IDA: 通过直接分析推断	16272156	GOA
involved in positive regulation of dendritic cell apoptotic process	IDA IDA: 通过直接分析推断	16272156	GOA
involved in positive regulation of protein kinase activity	IDA IDA: 通过直接分析推断	11359771	GOA
involved in protein localization to plasma membrane	IMP IMP: 通过突变表型推断	22797597	GOA
involved in regulation of cell junction assembly	IMP IMP: 通过突变表型推断	21840392	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	22797597	GOA
located in bicellular tight junction	IDA IDA: 通过直接分析推断	23885123	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	11359771	GOA
located in cytosol	IDA IDA: 通过直接分析推断	22797597	GOA
located in endocytic vesicle	IDA IDA: 通过直接分析推断	22797597	GOA
located in late endosome	IDA IDA: 通过直接分析推断	17724123	GOA
located in membrane	IDA IDA: 通过直接分析推断	10608883	GOA
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	11359771	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

RAPGEF2 蛋白结构

cNMP_binding

RasGEF_N

PDZ

RasGEF

0
300
600
900
1200
1499 a.a.

蛋白主名

其他名称

rap guanine nucleotide exchange factor 2

PDZ domain containing guanine nucleotide exchange factor (GEF) 1

RAPGEF2 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	RAPGEF2	Q9Y4G8	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
种属内	RAPGEF2	Q9Y4G8	MAGI1	Homo sapiens	Q96QZ7-3	Far-WB	11168587
种属内	RAPGEF2	Q9Y4G8	MAGI1	Homo sapiens	Q96QZ7-3	CoIP	11168587

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Epilepsy, Familial Adult Myoclonic, 7

FAME7	Bafme7
Fcmte7	Benign Adult Familial Myoclonic Epilepsy 7
Cortical Myoclonic Tremor With Epilepsy, Familial, 7	Familial Adult Myoclonic Epilepsy 7
Familial Cortical Myoclonic Tremor And Epilepsy 7	Benign Adult Familial Myoclonic Epilepsy 27
Epilepsy, Myoclonic, Familial Adult, Type 7

Epilepsy, Familial Adult Myoclonic, 1

FAME1	Benign Adult Familial Myoclonic Epilepsy 1
Bafme1	Fcmte1
Cortical Myoclonic Tremor With Epilepsy, Familial, 1	Familial Adult Myoclonic Epilepsy 1
Familial Cortical Myoclonic Tremor And Epilepsy 1	Epilepsy, Myoclonic, Familial Adult, Type 1

Epilepsy, Familial Adult Myoclonic, 2

FAME2	Benign Adult Familial Myoclonic Epilepsy 2
Bafme2	Fcmte2
Adcme	Cortical Myoclonic Tremor With Epilepsy, Familial, 2
Cortical Myoclonus And Epilepsy, Autosomal Dominant	Familial Adult Myoclonic Epilepsy 2
Epilepsy, Myoclonic, Benign Adult Familial, Type 2	Autosomal Dominant Cortical Myoclonus And Epilepsy
Familial Cortical Myoclonic Tremor And Epilepsy 2	Epilepsy, Myoclonic, Familial Adult, Type 2

Epilepsy, Familial Adult Myoclonic, 6

FAME6	Benign Adult Familial Myoclonic Epilepsy 6
Bafme6	Fcmte6
Cortical Myoclonic Tremor With Epilepsy, Familial, 6	Familial Adult Myoclonic Epilepsy 6
Familial Cortical Myoclonic Tremor And Epilepsy 6	Epilepsy, Myoclonic, Familial Adult, Type 6

Epilepsy, Familial Adult Myoclonic, 4

FAME4	Fcmte4
Cortical Myoclonic Tremor With Epilepsy, Familial, 4	Familial Adult Myoclonic Epilepsy 4
Epilepsy, Myoclonic, Familial Adult, 4	Familial Cortical Myoclonic Tremor And Epilepsy 4
Epilepsy, Myoclonic, Familial Adult, Type 4

Epilepsy, Familial Adult Myoclonic, 3

FAME3	Fcmte3
Cortical Myoclonic Tremor With Epilepsy, Familial, 3	Familial Adult Myoclonic Epilepsy 3
Familial Cortical Myoclonic Tremor And Epilepsy 3	Epilepsy, Myoclonic, Familial Adult, Type 3

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy	Bafme
Benign Adult Familial Myoclonic Epilepsy	Fame
Familial Cortical Myoclonic Tremor And Epilepsy	Fcmte
Adcme	Autosomal Dominant Cortical Myoclonus And Epilepsy
Fam	Epilepsy, Myoclonic, Familial Adult
Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Adolescence-Adult Electroclinical Syndrome

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Mild Cognitive Impairment

Band Heterotopia

Subcortical Band Heterotopia	Double Cortex Syndrome
Subcortical Laminar Heterotopia	Double Cortex
Band Heterotopia Of Brain	BH
Heco	Heterotopic Cortex
Familial Band Heterotopia	Dc
Dc Syndrome	Heterotopia, Subcortical Band
Sbh	Sclh
Bhy

Congenital Disorder Of Glycosylation, Type Ig

CDG1G	Alg12-Congenital Disorder Of Glycosylation
Cdg Ig	Congenital Disorder Of Glycosylation Type 1g
Congenital Disorder Of Glycosylation Type Ig	Cdgig
Congenital Disorder Of Glycosylation Ig	Congenital Disorder Of Glycosylation 1g
Cdg-Ig	Alg12-Cdg
Cdg Syndrome Type Ig	Carbohydrate Deficient Glycoprotein Syndrome Type Ig
Mannosyltransferase 8 Deficiency	Glycosylation, Congenital Disorder Of, Type Ig

Spinocerebellar Ataxia 10

Spinocerebellar Ataxia Type 10	SCA10
Spinocerebellar Ataxia-10	Ataxia, Spinocerebellar, Type 10

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

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-RS11661	RAPGEF2 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	RAPGEF2	VGNC	VGNC:76493
Felis catus	RAPGEF2	VGNC	VGNC:64492
Canis familiaris	RAPGEF2	VGNC	VGNC:45347
Rattus norvegicus	RAPGEF2	RGD	RGD:1306434
Mus musculus	RAPGEF2	MGD	MGI:2659071
Bos taurus	RAPGEF2	VGNC	VGNC:33723

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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）

RAPGEF2 - Rap guanine nucleotide exchange factor 2 Gene

关于 RAPGEF2

功能概要

RAPGEF2 基因产物(7)

RAPGEF2 蛋白结构

RAPGEF2 蛋白互作信息

关联疾病

直系同源

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RAPGEF2 - Rap guanine nucleotide exchange factor 2 Gene

关于 RAPGEF2

功能概要

RAPGEF2 基因产物(7)

RAPGEF2 蛋白结构

RAPGEF2 蛋白互作信息

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