RAPGEF5 Chromosome 7

Rap guanine nucleotide exchange factor 5

1 variant 1 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

DEP domain containing

Locus Type

gene with protein product

Location

7p15.3

Ensembl

ENSG00000136237

Associated Conditions (1)

Dilated cardiomyopathy 1A

Key Variants

RS2128099721

Likely pathogenic

Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2128099721	Health Risk	Likely pathogenic	Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A