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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 (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 Signaling by GPCR and MAPK signaling pathway. 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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
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.92
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2 | Developmental Biology |
.51
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3 | Cytokine Signaling in Immune system | ||
4 | Innate Immune System |
.61
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5 | Signaling by GPCR |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
DG(16:0/24:0/0:0) |
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Diglycerides Group A |
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Diglycerides Group B |
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257891-89-7 |
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Diglycerides Group C |
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91125-76-7, 29541-66-0, 51621-26-2 |
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Diglycerides Group D |
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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 |
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SP1: | |||||||||||
SP2: | |||||||||||
SP3: | |||||||||||
SP4: | |||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAPGEF2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAPGEF2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAPGEF2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rapgef2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rapgef2 30 |
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Platypus (Ornithorhynchus anatinus) |
Mammalia | RAPGEF2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RAPGEF2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAPGEF2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RAPGEF2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rapgef2 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | rapgef2 30 31 |
|
OneToMany | |
RAPGEF2 (2 of 2) 31 |
|
OneToMany | |||
-- 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | Gef26 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | pxf-1 31 |
|
OneToMany |
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 | |
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 | |
rs17038049 | Benign: not provided | 159,342,988(+) |
C/T NM_014247.3(RAPGEF2):c.2445C>T (p.Asn815=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
epilepsy, familial adult myoclonic, 7 |
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epilepsy, familial adult myoclonic, 1 |
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epilepsy, familial adult myoclonic, 6 |
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epilepsy |
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bleeding disorder, platelet-type, 18 |
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