2. Gene
  3. RAPGEF4 - Rap guanine nucleotide exchange factor 4 Gene

RAPGEF4 - Rap guanine nucleotide exchange factor 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：Rap 鸟嘌呤核苷酸交换因子 4

种属: Homo sapiens

同用名: EPAC; CGEF2; EPAC2; EPAC 2; Nbla00496; CAMP-GEFII

基因 ID: 11069 | 基因类型: protein coding

关于 RAPGEF4

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:172,735,318-173,052,893 (from NCBI)

This gene has 15 transcripts (splice variants), 274 orthologues and 24 paralogues. Biased expression in brain (RPKM 37.0), adrenal (RPKM 17.3) and 12 other tissues.

功能概要

启用胍基核苷酸交换因子活性。预计参与调节神经递质受体定位到突触后特化膜和调节突触后组织。预计作用于腺苷酸环化酶激活 G 蛋白偶联受体信号通路的上游或内部；调节胞吐作用；和细胞分泌。预测位于质膜中。预计在谷氨酸能突触中活跃；海马苔藓纤维至 CA3 突触；和突触后密度。与自闭症有关。 [由基因组资源联盟提供，2022 年 4 月]

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane and regulation of postsynapse organization. Predicted to act upstream of or within adenylate cyclase-activating G protein-coupled receptor signaling pathway; regulation of exocytosis; and secretion by cell. Predicted to be located in plasma membrane. Predicted to be active in glutamatergic synapse; hippocampal mossy fiber to CA3 synapse; and postsynaptic density. Implicated in autistic disorder. [provided by Alliance of Genome Resources, Apr 2022]

RAPGEF4 基因产物(18)

mRNA Protein Name
NM_001100397.2 NP_001093867.1 rap guanine nucleotide exchange factor 4 isoform b
NM_001282899.2 NP_001269828.1 rap guanine nucleotide exchange factor 4 isoform c
NM_001282900.2 NP_001269829.1 rap guanine nucleotide exchange factor 4 isoform d
NM_001282901.2 NP_001269830.1 rap guanine nucleotide exchange factor 4 isoform e
NM_001375864.1 NP_001362793.1 rap guanine nucleotide exchange factor 4 isoform f
NM_001375865.1 NP_001362794.1 rap guanine nucleotide exchange factor 4 isoform g
NM_001375866.1 NP_001362795.1 rap guanine nucleotide exchange factor 4 isoform h
NM_001375867.1 NP_001362796.1 rap guanine nucleotide exchange factor 4 isoform i
NM_001375868.1 NP_001362797.1 rap guanine nucleotide exchange factor 4 isoform j
NM_001375869.1 NP_001362798.1 rap guanine nucleotide exchange factor 4 isoform k
NM_001375870.1 NP_001362799.1 rap guanine nucleotide exchange factor 4 isoform l
NM_001375871.1 NP_001362800.1 rap guanine nucleotide exchange factor 4 isoform m
NM_001375872.1 NP_001362801.1 rap guanine nucleotide exchange factor 4 isoform n
NM_001375873.1 NP_001362802.1 rap guanine nucleotide exchange factor 4 isoform o
NM_001375874.1 NP_001362803.1 rap guanine nucleotide exchange factor 4 isoform p
NM_001375875.1 NP_001362804.1 rap guanine nucleotide exchange factor 4 isoform q
NM_001375876.1 NP_001362805.1 rap guanine nucleotide exchange factor 4 isoform r
NM_007023.4 NP_008954.2 rap guanine nucleotide exchange factor 4 isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables guanyl-nucleotide exchange factor activity EXP
EXP: 通过实验结果推断
15334074 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11438518 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

RAPGEF4 蛋白结构

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (63 - 151)

DEP

DEP: Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) (221 - 289)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (379 - 458)

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (500 - 605)

RA

RA: Ras association (RalGDS/AF-6) domain (671 - 743)

RasGEF

RasGEF: RasGEF domain (771 - 953)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1011 a.a.
蛋白主名 其他名称

rap guanine nucleotide exchange factor 4

RAP guanine-nucleotide-exchange factor (GEF) 4

RAPGEF4 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
RAPGEF4 Q8WZA2 UBE2A Homo sapiens P49459
Y2H Pooling
32814053
种属内
RAPGEF4 Q8WZA2 UBE2A Homo sapiens P49459
Validated Y2H
32814053
种属内
RAPGEF4 Q8WZA2 UBE2A Homo sapiens P49459
Y2H Array
32814053
种属内
RAPGEF4 Q8WZA2 SWAP70 Homo sapiens Q9UH65
Y2H Array
24722188
种属内
RAPGEF4 Q8WZA2 SWAP70 Homo sapiens Q9UH65
Y2H Pooling
32814053
种属内
RAPGEF4 Q8WZA2 SWAP70 Homo sapiens Q9UH65
Validated Y2H
32814053
种属内
RAPGEF4 Q8WZA2 SWAP70 Homo sapiens Q9UH65
Y2H Array
32814053
种属内
RAPGEF4 Q8WZA2 SSB Homo sapiens P05455
Y2H Pooling
32814053
种属内
RAPGEF4 Q8WZA2 SSB Homo sapiens P05455
Validated Y2H
32814053
种属内
RAPGEF4 Q8WZA2 SSB Homo sapiens P05455
Y2H Array
32814053
种属内
RAPGEF4 Q8WZA2 BMERB1 Homo sapiens Q96MC5
Y2H Array
24722188
种属内
RAPGEF4 Q8WZA2 BMERB1 Homo sapiens Q96MC5
Y2H Prey Pooling
25416956
种属内
RAPGEF4 Q8WZA2 BMERB1 Homo sapiens Q96MC5
Validated Y2H
25416956
种属内
RAPGEF4 Q8WZA2 DEF6 Homo sapiens Q9H4E7
Validated Y2H
32296183
种属内
RAPGEF4 Q8WZA2 DEF6 Homo sapiens Q9H4E7
Y2H Prey Pooling
32296183
种属内
RAPGEF4 Q8WZA2 DEF6 Homo sapiens Q9H4E7
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

RAPGEF4 抗体

目录号 产品名 应用 反应物种
HY-P82578 Epac2 Antibody (YA2323) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

LNS

Hprt Deficiency

Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

X-Linked Hyperuricemia

Choreoathetosis Self-Mutilation Syndrome

Hprt1 Deficiency

Hprt Deficiency, Complete

Deficiency Of Imp Pyrophosphorylase

Hgprt Deficiency

Lesch-Nyhan Disease

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

Hg-Prt Deficiency

Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

Lesch - Nyhan Syndrome

Hprt1 Disorders

Lesch Nyhan Syndrome

Complete Hprt Deficiency Complete

Lesch Nyhan Disease

Complete Hprt Deficiency

Deficiency Of Guanine Phosphoribosyltransferase

Deficiency Of Hypoxanthine Phosphoribosyltransferase

Hypoxanthine Phosphoribosyltransferase Deficiency

Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

Juvenile Hyperuricemia Syndrome

Lnd

Primary Hyperuricemia Syndrome

Total Hprt Deficiency

Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

X-Linked Primary Hyperuricemia

X-Linked Uric Aciduria Enzyme Defect

Hprt Complete Deficiency

Hprt Deficiency Grade Iv

Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
Queensland Tick Typhus

Australian Tick Typhus

North Queensland Tick Typhus

Rickettsia Australis Spotted Fever
Inhalation Anthrax

Pulmonary Anthrax

Respiratory Anthrax

Inhalational Anthrax

Wool-Sorters' Disease

Woolsorters' Disease

Inhalation Anthrax Disease

Respiratory Anthrax Disease
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease

Isolated Polycystic Liver Disease

Pcld

Congenital Cystic Liver Disease

Congenital Hepatic Cyst

Fibrocystic Liver Disease

Isolated Autosomal Dominant Polycystic Liver Disease

Adpcld

Liver Disease, Polycystic

Multiple Cysts Of Liver

Pld - [Polycystic Liver Disease]

Polycystic Liver Disorder

Polycystic Liver

Congenital Polycystic Disease Of Liver

Congenital Polycystic Liver Disease
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11663 RAPGEF4 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus RAPGEF4 VGNC VGNC:64493
Bos taurus RAPGEF4 VGNC VGNC:33725
Rattus norvegicus RAPGEF4 RGD RGD:621886
Macaca mulatta RAPGEF4 VGNC VGNC:76490
Mus musculus RAPGEF4 MGD MGI:1917723
Canis familiaris RAPGEF4 VGNC VGNC:53103
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