Epilepsy, Familial Adult Myoclonic, 7 (RAPGEF2)
| Dred_ID | RD00063 |
| OMIM ID | 618075 |
| Disease name | Epilepsy, Familial Adult Myoclonic, 7 |
| Alternative names | FAME7 BAFME7 |
| Category | Genetic diseases, Rare diseases, Metabolic diseases |
| Phenotype | Familial adult myoclonic epilepsy is an autosomal dominant neurologic disorder characterized by rhythmic myoclonic jerks of cortical origin. Some affected individuals have generalized tonic-clonic seizures, and rare patients show cognitive decline. |
| Miscellaneouse | adult onset nonprogressive or slowly progressive course one japanese patient has been reported |
| Prevalence | N/A [source: MalaCards] |
| Inheritance | autosomal dominant |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | RAPGEF2 |
| Alias symbols | RA-GEF; NRAPGEP; PDZGEF1; Rap-GEP; CNrasGEF; PDZ-GEF1; RA-GEF-1; nRap GEP |
| Gene name | Rap guanine nucleotide exchange factor 2 |
| Gene map locus | 4q32.1; chr4:159,103,013-159,360,174(+) |
| Ensembl Gene ID | ENSG00000109756 |
| Gene expression and Gene Ontology | BioGPS |
| Protein expression | Human Protein Atlas |
| Gene sequence | Sequence |
| Variation | ClinVar, dbSNP | Gene conservation | Gene Conservation from UCSC Genome Browser |
| Gene Description | 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] |
| Repeat unit | TTTCA/TTTTA |
| Normal repeat copies | 17-600(TTTTA) |
| Pathogenic repeat copies | ≥28 |
| Gene | RAPGEF2 |
| Repeat location | intron |
| Chromosome locus | chr4:159342557-159342709 (+) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | RNA |
| Possible toxicity | Functional studies of the RAPGEF2 variant and studies of patient cells were not performed, but based on studies with SAMD12, Ishiura et al. (2018) postulated that the expression of RNA molecules containing expansions of UUUCA and UUUUA repeats per se is involved in the pathogenesis of the disorder, rather than altered physiologic function of each individual gene. [By OMIM] |
| Pathway annotation | Reactome, KEGG |
| PMID | 29507423 |
| Authors | Hiroyuki Ishiura, Shinichi Morishita, Shoji Tsuji. |
| Title | Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy |
| Journal | Nature Genetics |
| Year | 2018 |