ARHGEF15 Chromosome 17
Rho guanine nucleotide exchange factor 15
Upload your DNA to see your personal genotypes for variants in ARHGEF15.
What This Gene Does
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
Dbl family Rho GEFs
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000198844
Associated Conditions (3)
ARHGEF15-related disorder
Early-infantile DEE
Developmental and epileptic encephalopathy
Key Variants
RS113425529
Conflicting classifications of pathogenicity
ARHGEF15-related disorder, Early-infantile DEE, ARHGEF15-related disorder
Health Risk
RS115597604
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS139532485
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS146257701
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS147736312
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS149371094
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS200767050
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS201103318
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS202178259
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS373534537
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS552154823
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS774905343
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113425529 | Health Risk | Conflicting classifications of pathogenicity | ARHGEF15-related disorder, Early-infantile DEE, ARHGEF15-related disorder |
| RS115597604 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS139532485 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS146257701 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS147736312 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS149371094 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS200767050 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS201103318 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS202178259 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS373534537 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS552154823 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS774905343 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS1555546796 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |