RAPGEF2 - Rap guanine nucleotide exchange factor 2 Gene

Homo sapiens

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

Gene ID: 9693 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11661	RAPGEF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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