Gene: ARHGEF9

Alternate names for this Gene: COLLYBISTIN|DEE8|EIEE8|HPEM-2|PEM-2|PEM2

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq11.1

Description of this Gene: Cdc42 guanine nucleotide exchange factor 9

Type of Gene: protein-coding

rs111810219 in ARHGEF9 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs1135401795 in ARHGEF9 gene and Hyperekplexia and Epilepsy PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 28708303 2018 Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

PMID 17893116 2008 ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.

PMID 18615734 2009 A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.

PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PMID 25678704 2015 Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.

PMID 15215304 2004 The vital importance of collybistin for inhibitory synaptogenesis is underlined by the discovery of a mutation (G55A) in exon 2 of the human collybistin gene (ARHGEF9) in a patient with clinical symptoms of both hyperekplexia and epilepsy.

PMID 28589176 2017 ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

PMID 26834553 2015 Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.