ARHGEF9 Chromosome X
Cdc42 guanine nucleotide exchange factor 9
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What This Gene Does
The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs"
Locus Type
gene with protein product
Location
Xq11.1
Ensembl
ENSG00000131089
Associated Conditions (14)
Developmental and epileptic encephalopathy
8
Inborn genetic diseases
ARHGEF9-related disorder
Autism
Autism spectrum disorder
Neurodevelopmental delay
Global developmental delay
Thyroid cancer
nonmedullary
1
Seizure
Developmental disorder
ARHGEF9-related neurodevelopmental disorder
Key Variants
RS1057522347
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy
Health Risk
RS1286076100
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy
Health Risk
RS138198839
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 8, Inborn genetic diseases
Health Risk
RS1384182085
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy
Health Risk
RS140777637
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 8, Inborn genetic diseases
Health Risk
RS1556335112
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy
Health Risk
RS1556401730
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 8, Autism
Health Risk
RS1556402053
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy
Health Risk
RS2047402332
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy
Health Risk
RS2050115619
Conflicting classifications of pathogenicity
Autism spectrum disorder, Developmental and epileptic encephalopathy, 8
Health Risk
RS2147114173
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy
Health Risk
RS2147114206
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147218558 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy |
| RS2147266023 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy |
| RS2147307979 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy |
| RS2519460570 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy |
| RS2519503706 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Seizure |
| RS2519616140 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Developmental disorder |
| RS2519616169 | Health Risk | Pathogenic | — |
| RS2519681429 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy |
| RS2519728574 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy |
| RS2519750379 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy |
| RS2519750588 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Inborn genetic diseases |
| RS2519844209 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519905021 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy |
| RS397514460 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy |
| RS782206262 | Health Risk | Pathogenic | ARHGEF9-related disorder, Developmental and epileptic encephalopathy, 8 |
| RS1556401714 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy |
| RS1569476483 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 8, Developmental and epileptic encephalopathy |
| RS1602446549 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 8, Inborn genetic diseases |
| RS2048831313 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 1 |
| RS2519728924 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 8, Inborn genetic diseases |
| RS869312941 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 8 |