Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= ARHGEF9 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: ARHGEF9 * **<color #00a2e8>Official Name</color>**: Cdc42 guanine nucleotide exchange factor 9 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=23229|23229]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O43307|O43307]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ARHGEF9&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ARHGEF9|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300429|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters. {ECO:0000269|PubMed:10559246}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |PH| |SH3 2| |SH3 1| |RhoGEF| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |Rho guanyl-nucleotide exchange factor activity| |regulation of Rho protein signal transduction| |postsynaptic membrane| |regulation of Ras protein signal transduction| |postsynaptic density| |regulation of small GTPase mediated signal transduction| |cell junction| |positive regulation of apoptotic process| |positive regulation of programmed cell death| |positive regulation of cell death| |G protein-coupled receptor signaling pathway| |regulation of apoptotic process| |regulation of programmed cell death| |regulation of cell death| |regulation of intracellular signal transduction| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/694 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/26| |bone|0/26| |breast|0/30| |central nervous system|0/49| |cervix|0/4| |colorectal|0/17| |esophagus|0/11| |fibroblast|0/1| |gastric|0/14| |kidney|0/18| |liver|0/19| |lung|0/72| |lymphocyte|0/16| |ovary|0/25| |pancreas|0/22| |peripheral nervous system|0/15| |plasma cell|0/12| |prostate|0/1| |skin|0/20| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/28| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 16845 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.89 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='ARHGEF9 Expression in NALM6 Cells: 4.89'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1