Gene: RAPGEF5

Alternate names for this Gene: GFR|MR-GEF|REPAC

Gene 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: D87467.1, SRR1660809.160007.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END##

Gene is located in Chromosome: 7

Location in Chromosome : 7p15.3

Description of this Gene: Rap guanine nucleotide exchange factor 5

Type of Gene: protein-coding

rs113432289 in RAPGEF5 gene and Glaucoma PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

rs10243383 in RAPGEF5 gene and Major Depressive Disorder PMID 30219690 2019 GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort.

rs10243383 in RAPGEF5 gene and Smoking PMID 30219690 2019 GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort.