ARHGEF9 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ARHGEF9 |
| Official Name | Cdc42 guanine nucleotide exchange factor 9 [Source:HGNC Symbol;Acc:HGNC:14561] |
| Ensembl ID | ENSG00000131089 |
| Bio databases IDs | |
| Aliases | Cdc42 guanine nucleotide exchange factor 9, collybistin |
| Synonyms | 9630036L12Rik, Cb, CDC42 guanine nucleotide exchange factor 9, COLLYBISTIN, DEE8, EIEE8, HPEM-2, LOC100912165, PEM-2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ARHGEF9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RhoGEF
- guanyl-nucleotide exchange factor
- PH domain
- protein binding
- Pleckstrin homology-like domain
- RhoGEF domain
- Src Homology 3 domain superfamily
Pathways
Biological processes and signaling networks where the ARHGEF9 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hyperekplexia and epilepsy
- hereditary disorder
- COVID-19
- alopecia
- developmental disorder
- X-linked complex neurodevelopmental disorder
- global developmental delay
role in cell
- formation
- binding in
- cell rounding
- loss in
- long-term potentiation
- plasticity
- abnormal morphology
- excitatory postsynaptic potential
- long term synaptic depression
- clustering in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- organelle
- cell cortex
- cytosol
- synapse
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARHGEF9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of small GTPase mediated signal transduction
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity