ARHGEF9
Gene Information
- Official Symbol: ARHGEF9
- Official Name: Cdc42 guanine nucleotide exchange factor 9
- Aliases and Previous Symbols: N/A
- Entrez ID: 23229
- UniProt: O43307
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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. [provided by RefSeq, Jul 2017].
- UniProt Summary: Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters. {ECO:0000269|PubMed:10559246}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 16845
- Expression level (log2 read counts): 4.89
ARHGEF9 Expression in NALM6 Cells: 4.89
