RAPGEF2 Gene (Protein Coding)

Rap Guanine Nucleotide Exchange Factor 2

GC04P159106
GIFtS:
42
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 sur... See more...

Aliases for RAPGEF2 Gene

Aliases for RAPGEF2 Gene

  • Rap Guanine Nucleotide Exchange Factor 2 2 3 3 4 5
  • PDZ-GEF1 2 3 4
  • PDZ Domain Containing Guanine Nucleotide Exchange Factor (GEF) 1 2 3
  • PDZ Domain-Containing Guanine Nucleotide Exchange Factor 1 3 4
  • Rap Guanine Nucleotide Exchange Factor (GEF) 2 2 3
  • Neural RAP Guanine Nucleotide Exchange Protein 3 4
  • Ras/Rap1-Associating GEF-1 3 4
  • Cyclic Nucleotide Ras GEF 3 4
  • CNrasGEF 3 4
  • RA-GEF-1 3 4
  • NRap GEP 3 4
  • KIAA0313 2 4
  • NRAPGEP 3 4
  • PDZGEF1 3 4
  • RA-GEF 2 3
  • RA(Ras/Rap1A-Associating)-GEF 3
  • DKFZP586O1422 2
  • Rap GEP 2
  • Rap-GEP 3
  • RAPGEF2 5
  • RAGEF 3

External Ids for RAPGEF2 Gene

Previous HGNC Symbols for RAPGEF2 Gene

  • PDZGEF1

Previous GeneCards Identifiers for RAPGEF2 Gene

  • GC04P160767
  • GC04P160546
  • GC04P160244
  • GC04P160409
  • GC04P160188
  • GC04P160025
  • GC04P155939

Summaries for RAPGEF2 Gene

Entrez Gene Summary for RAPGEF2 Gene

  • 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]

GeneCards Summary for RAPGEF2 Gene

RAPGEF2 (Rap Guanine Nucleotide Exchange Factor 2) is a Protein Coding gene. Diseases associated with RAPGEF2 include Epilepsy, Familial Adult Myoclonic, 7 and Epilepsy, Familial Adult Myoclonic, 1. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and obsolete signal transducer activity. An important paralog of this gene is RAPGEF6.

UniProtKB/Swiss-Prot Summary for RAPGEF2 Gene

  • Functions as a guanine nucleotide exchange factor (GEF), which activates Rap and Ras family of small GTPases by exchanging bound GDP for free GTP in a cAMP-dependent manner. Serves as a link between cell surface receptors and Rap/Ras GTPases in intracellular signaling cascades. Acts also as an effector for Rap1 by direct association with Rap1-GTP thereby leading to the amplification of Rap1-mediated signaling. Shows weak activity on HRAS. It is controversial whether RAPGEF2 binds cAMP and cGMP (PubMed:23800469, PubMed:10801446) or not (PubMed:10608844, PubMed:10548487, PubMed:11359771). Its binding to ligand-activated beta-1 adrenergic receptor ADRB1 leads to the Ras activation through the G(s)-alpha signaling pathway. Involved in the cAMP-induced Ras and Erk1/2 signaling pathway that leads to sustained inhibition of long term melanogenesis by reducing dendrite extension and melanin synthesis. Provides also inhibitory signals for cell proliferation of melanoma cells and promotes their apoptosis in a cAMP-independent nanner. Regulates cAMP-induced neuritogenesis by mediating the Rap1/B-Raf/ERK signaling through a pathway that is independent on both PKA and RAPGEF3/RAPGEF4. Involved in neuron migration and in the formation of the major forebrain fiber connections forming the corpus callosum, the anterior commissure and the hippocampal commissure during brain development. Involved in neuronal growth factor (NGF)-induced sustained activation of Rap1 at late endosomes and in brain-derived neurotrophic factor (BDNF)-induced axon outgrowth of hippocampal neurons. Plays a role in the regulation of embryonic blood vessel formation and in the establishment of basal junction integrity and endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR and cadherin CDH5 expression at allantois endothelial cell-cell junctions.

Gene Wiki entry for RAPGEF2 Gene

Additional gene information for RAPGEF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAPGEF2 Gene

Genomics for RAPGEF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RAPGEF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAPGEF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAPGEF2

Top Transcription factor binding sites by QIAGEN in the RAPGEF2 gene promoter:
  • ATF-2
  • C/EBPbeta
  • Cdc5
  • FOXC1
  • HOXA3
  • Lmo2
  • Nkx6-1
  • RORalpha1
  • SRY

Genomic Locations for RAPGEF2 Gene

Latest Assembly
chr4:159,103,013-159,360,174
(GRCh38/hg38)
Size:
257,162 bases
Orientation:
Plus strand

Previous Assembly
chr4:160,025,203-160,281,321
(GRCh37/hg19 by Entrez Gene)
Size:
256,119 bases
Orientation:
Plus strand

chr4:160,025,330-160,281,321
(GRCh37/hg19 by Ensembl)
Size:
255,992 bases
Orientation:
Plus strand

Genomic View for RAPGEF2 Gene

Genes around RAPGEF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAPGEF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAPGEF2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RAPGEF2 Gene

Proteins for RAPGEF2 Gene

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  • Protein details for RAPGEF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4G8-RPGF2_HUMAN
    Recommended name:
    Rap guanine nucleotide exchange factor 2
    Protein Accession:
    Q9Y4G8
    Secondary Accessions:
    • D3DP27

    Protein attributes for RAPGEF2 Gene

    Size:
    1499 amino acids
    Molecular mass:
    167417 Da
    Quaternary structure:
    • Interacts with CDH1, CTNNB1 and TJP1 (By similarity). Interacts (via C-terminal domain) with MAGI2 (via PDZ and WW domains); the interaction occurs before or after NGF stimulation. Interacts with KIDINS220 and NTRK1; the interactions occur after NGF stimulation (By similarity). Found in a complex, at least composed of KIDINS220, MAGI2, NTRK1 and RAPGEF2; the complex is mainly formed at late endosomes in a neuronal growth factor (NGF)-dependent manner. Interacts (via C-terminal domain) with NEDD4 (via WW domains); this interaction leads to ubiquitination and degradation via the proteasome pathway in a cAMP-independent manner. Interacts with MAGI1 isoform 3 (via PDZ domain). Interacts with ADRB1 (via C-terminal PDZ motif); the interaction is direct. Interacts (via Ras-associating domain) with RAP1A (via GTP-bound active form). Interacts weakly with HRAS (via GDP- and GTP-bound forms). Interacts (via C-terminal domain) with MAGI2 (via PDZ and WW domains).
    SequenceCaution:
    • Sequence=BAA20772.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAPGEF2 Gene

neXtProt entry for RAPGEF2 Gene

Protein Expression for RAPGEF2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RAPGEF2 Gene

Other Protein References for RAPGEF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAPGEF2 Gene

Domains & Families for RAPGEF2 Gene

Gene Families for RAPGEF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAPGEF2 Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
  • Cyclic nucleotide-binding domain
  • Guanine-nucleotide dissociation stimulator CDC25
  • RA domain

Suggested Antigen Peptide Sequences for RAPGEF2 Gene

GenScript: Design optimal peptide antigens:
  • RAPGEF2 protein (Q17RH5_HUMAN)
  • RA-GEF (RPGF2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y4G8

UniProtKB/Swiss-Prot:

RPGF2_HUMAN :
  • The Ras-associating domain is necessary for the Rap guanine nucleotide exchange activity. The N-terminal regionis necessary for cAMP-binding. The PDZ domain is necessary for its targeting to the cell membrane.
  • Belongs to the RAPGEF2 family.
Domain:
  • The Ras-associating domain is necessary for the Rap guanine nucleotide exchange activity. The N-terminal regionis necessary for cAMP-binding. The PDZ domain is necessary for its targeting to the cell membrane.
Family:
  • Belongs to the RAPGEF2 family.
genes like me logo Genes that share domains with RAPGEF2: view

Function for RAPGEF2 Gene

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Molecular function for RAPGEF2 Gene

UniProtKB/Swiss-Prot Function:
Functions as a guanine nucleotide exchange factor (GEF), which activates Rap and Ras family of small GTPases by exchanging bound GDP for free GTP in a cAMP-dependent manner. Serves as a link between cell surface receptors and Rap/Ras GTPases in intracellular signaling cascades. Acts also as an effector for Rap1 by direct association with Rap1-GTP thereby leading to the amplification of Rap1-mediated signaling. Shows weak activity on HRAS. It is controversial whether RAPGEF2 binds cAMP and cGMP (PubMed:23800469, PubMed:10801446) or not (PubMed:10608844, PubMed:10548487, PubMed:11359771). Its binding to ligand-activated beta-1 adrenergic receptor ADRB1 leads to the Ras activation through the G(s)-alpha signaling pathway. Involved in the cAMP-induced Ras and Erk1/2 signaling pathway that leads to sustained inhibition of long term melanogenesis by reducing dendrite extension and melanin synthesis. Provides also inhibitory signals for cell proliferation of melanoma cells and promotes their apoptosis in a cAMP-independent nanner. Regulates cAMP-induced neuritogenesis by mediating the Rap1/B-Raf/ERK signaling through a pathway that is independent on both PKA and RAPGEF3/RAPGEF4. Involved in neuron migration and in the formation of the major forebrain fiber connections forming the corpus callosum, the anterior commissure and the hippocampal commissure during brain development. Involved in neuronal growth factor (NGF)-induced sustained activation of Rap1 at late endosomes and in brain-derived neurotrophic factor (BDNF)-induced axon outgrowth of hippocampal neurons. Plays a role in the regulation of embryonic blood vessel formation and in the establishment of basal junction integrity and endothelial barrier function. May be involved in the regulation of the vascular endothelial growth factor receptor KDR and cadherin CDH5 expression at allantois endothelial cell-cell junctions.

Phenotypes From GWAS Catalog for RAPGEF2 Gene

Gene Ontology (GO) - Molecular Function for RAPGEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA,IDA 10608883
GO:0005096 GTPase activator activity IEA,IDA 10934204
GO:0005509 calcium ion binding NAS 10934204
GO:0005515 protein binding IEA,IPI 10548487
GO:0017034 Rap guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with RAPGEF2: view
genes like me logo Genes that share phenotypes with RAPGEF2: view

Human Phenotype Ontology for RAPGEF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAPGEF2 Gene

MGI Knock Outs for RAPGEF2:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAPGEF2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RAPGEF2 Gene

Localization for RAPGEF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAPGEF2 Gene

Cytoplasm. Cytoplasm, perinuclear region. Cell membrane. Late endosome. Cell junction. Note=Associated with the synaptic plasma membrane. Colocalizes with ADRB1 at the plasma membrane. Synaptosome. Enriched in synaptic plasma membrane and neuronal cell body. Colocalized with CTNNB1 at cell-cell contacts (By similarity). Localized diffusely in the cytoplasm before neuronal growth factor (NGF) stimulation. Recruited to late endosomes after NGF stimulation. Colocalized with the high affinity nerve growth factor receptor NTRK1 at late endosomes. Translocated to the perinuclear region in a RAP1A-dependent manner. Translocated to the cell membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAPGEF2 gene
Compartment Confidence
plasma membrane 5
endosome 5
cytosol 5
cytoskeleton 3
nucleus 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAPGEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 11359771
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA,IDA 17724123
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IDA,ISS --
genes like me logo Genes that share ontologies with RAPGEF2: view

Pathways & Interactions for RAPGEF2 Gene

PathCards logo

SuperPathways for RAPGEF2 Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Developmental Biology
Axon guidance
.51
Developmental Biology
.51
3 Cytokine Signaling in Immune system
Cytokine Signaling in Immune system
.69
Signaling by Interleukins
.69
4 Innate Immune System
Immune System
.61
Innate Immune System
.61
5 Signaling by GPCR
Signaling by GPCR
.76
Signal Transduction
.52
genes like me logo Genes that share pathways with RAPGEF2: view

Pathways by source for RAPGEF2 Gene

7 GeneGo (Thomson Reuters) pathways for RAPGEF2 Gene
  • Development A2A receptor signaling
  • Development A2B receptor- action via G-protein alpha s
  • Development Beta-adrenergic receptors regulation of ERK
  • G-protein signaling G-Protein alpha-s signaling cascades
  • G-protein signaling_H-RAS regulation pathway

SIGNOR curated interactions for RAPGEF2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RAPGEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade NAS,TAS --
GO:0001568 blood vessel development ISS --
GO:0001764 neuron migration ISS --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IDA 23800469
genes like me logo Genes that share ontologies with RAPGEF2: view

Drugs & Compounds for RAPGEF2 Gene

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(4) Drugs for RAPGEF2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(7) Additional Compounds for RAPGEF2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
DG(16:0/24:0/0:0)
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
 257891-89-7
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
 91125-76-7, 29541-66-0, 51621-26-2
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with RAPGEF2: view

Transcripts for RAPGEF2 Gene

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mRNA/cDNA for RAPGEF2 Gene

7 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAPGEF2

Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEF2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22a ·
SP1: - - -
SP2: - -
SP3: -
SP4: -
SP5:

ExUns: 22b · 22c ^ 23a · 23b ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for RAPGEF2 Gene

GeneLoc Exon Structure for
RAPGEF2

Expression for RAPGEF2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAPGEF2 Gene

mRNA expression in normal human tissues for RAPGEF2 Gene
mRNA expression by GTEx for RAPGEF2 GenemRNA expression by BioGPS for RAPGEF2 Gene

Protein differential expression in normal tissues from HIPED for RAPGEF2 Gene

This gene is overexpressed in Brain (31.9), Frontal cortex (14.2), and Peripheral blood mononuclear cells (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAPGEF2 Gene



Protein tissue co-expression partners for RAPGEF2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAPGEF2

SOURCE GeneReport for Unigene cluster for RAPGEF2 Gene:

Hs.744884

mRNA Expression by UniProt/SwissProt for RAPGEF2 Gene:

Q9Y4G8-RPGF2_HUMAN
Tissue specificity: Expressed in primary neuronal and endocrine cells (at protein level). Highest expression levels in brain. Lower expression levels in heart, kidney, lung, placenta and blood leukocytes.

Evidence on tissue expression from TISSUES for RAPGEF2 Gene

  • Liver(4.4)
  • Blood(4.4)
  • Nervous system(4.2)
  • Kidney(2.3)
  • Heart(2.2)
  • Thyroid gland(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with RAPGEF2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAPGEF2 Gene

Orthologs for RAPGEF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAPGEF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RAPGEF2 29 30
  • 99.67 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia RAPGEF2 29 30
  • 92.25 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia RAPGEF2 29 30
  • 87.42 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Rapgef2 29 16 30
  • 86.19 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rapgef2 29
  • 86 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia RAPGEF2 30
  • 85 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia RAPGEF2 30
  • 83 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves RAPGEF2 29 30
  • 82.68 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RAPGEF2 30
  • 86 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia rapgef2 29
  • 78.56 (n)
Zebrafish
(Danio rerio)
 Actinopterygii rapgef2 29 30
  • 71.97 (n)
 OneToMany
RAPGEF2 (2 of 2) 30
  • 58 (a)
 OneToMany
-- 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Gef26 30
  • 36 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea pxf-1 30
  • 31 (a)
 OneToMany
Species where no ortholog for RAPGEF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RAPGEF2 Gene

ENSEMBL:
Gene Tree for RAPGEF2 (if available)
TreeFam:
Gene Tree for RAPGEF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAPGEF2: view image
Alliance of Genome Resources:
Additional Orthologs for RAPGEF2

Paralogs for RAPGEF2 Gene

Paralogs for RAPGEF2 Gene

(6) SIMAP similar genes for RAPGEF2 Gene using alignment to 10 proteins:

  • RPGF2_HUMAN
  • D6RAK0_HUMAN
  • D6RC78_HUMAN
  • D6REY8_HUMAN
  • H0Y8H7_HUMAN
  • H0Y8N8_HUMAN
  • H0Y8T6_HUMAN
  • H0Y905_HUMAN
  • H0YAJ8_HUMAN
  • Q17RH5_HUMAN
genes like me logo Genes that share paralogs with RAPGEF2: view

Variants for RAPGEF2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAPGEF2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
982725 Uncertain Significance: Epilepsy, familial adult myoclonic, 7 159,358,106(+) A/G
NM_001351724.3(RAPGEF2):c.5033-8A>G 		INTRON
996945 Uncertain Significance: Epilepsy, familial adult myoclonic, 7 159,314,734(+) G/C
NM_001351724.3(RAPGEF2):c.819G>C (p.Glu273Asp) 		MISSENSE
rs10014951 Benign: not provided 159,322,337(+) T/C
NM_014247.3(RAPGEF2):c.371-10T>C 		INTRON
rs1315705346 Likely Benign: not provided 159,355,893(+) T/C
NM_014247.3(RAPGEF2):c.4209T>C (p.Pro1403=) 		SYNONYMOUS
rs139146857 Benign: not provided 159,304,389(+) A/C
NM_014247.3(RAPGEF2):c.108A>C (p.Pro36=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAPGEF2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RAPGEF2 Gene

Variant ID Type Subtype PubMed ID
nsv830129 CNV gain 17160897

Variation tolerance for RAPGEF2 Gene

Residual Variation Intolerance Score: 1.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAPGEF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAPGEF2
Leiden Open Variation Database (LOVD)
RAPGEF2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAPGEF2 Gene

Disorders for RAPGEF2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for RAPGEF2 Gene - From: OMI, CVR, GTR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RPGF2_HUMAN
  • Epilepsy, familial adult myoclonic, 7 (FAME7) [MIM:618075]: A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME7 inheritance is autosomal dominant. {ECO:0000269 PubMed:29507423}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for RAPGEF2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RAPGEF2: view

No data available for Genatlas for RAPGEF2 Gene

Publications for RAPGEF2 Gene

  1. Identification of guanine nucleotide exchange factors (GEFs) for the Rap1 GTPase. Regulation of MR-GEF by M-Ras-GTP interaction. (PMID: 10934204) Rebhun JF … Quilliam LA (The Journal of biological chemistry 2000) 2 3 4 22
  2. Membrane-associated guanylate kinase with inverted orientation (MAGI)-1/brain angiogenesis inhibitor 1-associated protein (BAP1) as a scaffolding molecule for Rap small G protein GDP/GTP exchange protein at tight junctions. (PMID: 11168587) Mino A … Takai Y (Genes to cells : devoted to molecular & cellular mechanisms 2000) 3 4 22
  3. RA-GEF, a novel Rap1A guanine nucleotide exchange factor containing a Ras/Rap1A-associating domain, is conserved between nematode and humans. (PMID: 10608844) Liao Y … Kataoka T (The Journal of biological chemistry 1999) 3 4 22
  4. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  5. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. (PMID: 29507423) Ishiura H … Tsuji S (Nature genetics 2018) 4 72

ExternalLinks

View latest publications for RAPGEF2 gene in Mastermind

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