RAPGEF2 - Rap guanine nucleotide exchange factor 2 Gene

Also Known as RAGEF; RA-GEF; NRAPGEP; PDZGEF1; Rap-GEP; CNrasGEF; PDZ-GEF1; RA-GEF-1; nRap GEP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9693

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	10934204	GOA
enables PDZ domain binding	IDA IDA: Inferred from direct assay	10548487	GOA
enables WW domain binding	IDA IDA: Inferred from direct assay	10548487	GOA
enables beta-1 adrenergic receptor binding	IDA IDA: Inferred from direct assay	12391161	GOA
NOT enables cAMP binding	IDA IDA: Inferred from direct assay	10548487	GOA
enables cAMP binding	IDA IDA: Inferred from direct assay	10801446	GOA
NOT enables cGMP binding	IDA IDA: Inferred from direct assay	10608844	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	10608883	GOA
enables phosphatidic acid binding	IDA IDA: Inferred from direct assay	22797597	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10548487	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	23800469	GOA
involved in Rap protein signal transduction	IMP IMP: Inferred from mutant phenotype	21840392	GOA
involved in adenylate cyclase-activating adrenergic receptor signaling pathway	IDA IDA: Inferred from direct assay	12391161	GOA
involved in cAMP-mediated signaling	IDA IDA: Inferred from direct assay	23800469	GOA
involved in cellular response to cAMP	IDA IDA: Inferred from direct assay	10801446	GOA
involved in cellular response to cGMP	IDA IDA: Inferred from direct assay	10801446	GOA
involved in establishment of endothelial barrier	IMP IMP: Inferred from mutant phenotype	21840392	GOA
involved in establishment of endothelial intestinal barrier	IMP IMP: Inferred from mutant phenotype	23885123	GOA
involved in microvillus assembly	IGI IGI: Inferred from genetic interaction	22797597	GOA
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	16272156	GOA
involved in negative regulation of dendrite morphogenesis	IDA IDA: Inferred from direct assay	16272156	GOA
involved in neuron projection development	IDA IDA: Inferred from direct assay	23800469	GOA
involved in neuropeptide signaling pathway	IDA IDA: Inferred from direct assay	23800469	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IDA IDA: Inferred from direct assay	16272156	GOA
involved in positive regulation of GTPase activity	IDA IDA: Inferred from direct assay	10548487	GOA
involved in positive regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	21840392	GOA
involved in positive regulation of cAMP-dependent protein kinase activity	IDA IDA: Inferred from direct assay	16272156	GOA
involved in positive regulation of dendritic cell apoptotic process	IDA IDA: Inferred from direct assay	16272156	GOA
involved in positive regulation of protein kinase activity	IDA IDA: Inferred from direct assay	11359771	GOA
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	22797597	GOA
involved in regulation of cell junction assembly	IMP IMP: Inferred from mutant phenotype	21840392	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	22797597	GOA
located in bicellular tight junction	IDA IDA: Inferred from direct assay	23885123	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11359771	GOA
located in cytosol	IDA IDA: Inferred from direct assay	22797597	GOA
located in endocytic vesicle	IDA IDA: Inferred from direct assay	22797597	GOA
located in late endosome	IDA IDA: Inferred from direct assay	17724123	GOA
located in membrane	IDA IDA: Inferred from direct assay	10608883	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	11359771	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAPGEF2 Protein Structure

cNMP_binding

RasGEF_N

PDZ

RasGEF

0
300
600
900
1200
1499 a.a.

Protein Preferred Names	Protein Names
rap guanine nucleotide exchange factor 2	PDZ domain containing guanine nucleotide exchange factor (GEF) 1

RAPGEF2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	RAPGEF2	Q9Y4G8	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
Intra	RAPGEF2	Q9Y4G8	MAGI1	Homo sapiens	Q96QZ7-3	Far-WB	11168587
Intra	RAPGEF2	Q9Y4G8	MAGI1	Homo sapiens	Q96QZ7-3	CoIP	11168587

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS11661	RAPGEF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	RAPGEF2	NCBI