RAPGEF5 Rap guanine nucleotide exchange factor 5
Gene ID: 9771, updated on 10-Oct-2024Gene type: protein coding
Also known as: GFR; MRGEF; REPAC; MR-GEF
- See all available tests in GTR for this gene
- Go to complete Gene record for RAPGEF5
- Go to Variation Viewer for RAPGEF5 variants
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 RAPGEF5, 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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. GeneReviews: Not available | |
| Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. GeneReviews: Not available |
Genomic context
- Location:
- 7p15.3
- Sequence:
- Chromosome: 7; NC_000007.14 (22118236..22357154, complement)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RAPGEF5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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