Homo sapiens Gene: ARHGEF9 | |||||||||||||||||||||
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Summary | |||||||||||||||||||||
InnateDB Gene | IDBG-73041.6 | ||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||
Gene Symbol | ARHGEF9 | ||||||||||||||||||||
Gene Name | Cdc42 guanine nucleotide exchange factor (GEF) 9 | ||||||||||||||||||||
Synonyms | COLLYBISTIN; EIEE8; HPEM-2; PEM-2; PEM2 | ||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||
Ensembl Gene | ENSG00000131089 | ||||||||||||||||||||
Encoded Proteins |
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Cdc42 guanine nucleotide exchange factor (GEF) 9
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Protein Structure | |||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||
Entrez 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. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] |
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Gene Information | |||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||
Genomic Location | Chromosome X:63634967-63809274 | ||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||
Band | q11.2 | ||||||||||||||||||||
Transcripts | |||||||||||||||||||||
Interactions | |||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||
NETPATH | |||||||||||||||||||||
REACTOME |
Ligand-gated ion channel transport pathway
NRAGE signals death through JNK pathway
G alpha (12/13) signalling events pathway
Rho GTPase cycle pathway
GABA A receptor activation pathway
Transmembrane transport of small molecules pathway
Signalling by NGF pathway
Signaling by Rho GTPases pathway
Neuronal System pathway
Signaling by GPCR pathway
GABA receptor activation pathway
p75 NTR receptor-mediated signalling pathway
Signal Transduction pathway
GPCR downstream signaling pathway
Orphan transporters pathway
Ion channel transport pathway
Transmission across Chemical Synapses pathway
Cell death signalling via NRAGE, NRIF and NADE pathway
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
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KEGG | |||||||||||||||||||||
INOH | |||||||||||||||||||||
PID NCI |
Regulation of CDC42 activity
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Cross-References | |||||||||||||||||||||
SwissProt | |||||||||||||||||||||
TrEMBL | |||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||
Entrez Gene | 23229 | ||||||||||||||||||||
UniGene | |||||||||||||||||||||
RefSeq | NM_001173479 NM_001173480 NM_015185 XM_005262249 XM_005262250 XM_005262251 XM_005262252 XM_006724636 XM_006724637 | ||||||||||||||||||||
HUGO | HGNC:14561 | ||||||||||||||||||||
OMIM | 300429 | ||||||||||||||||||||
CCDS | CCDS55430 CCDS35315 CCDS55429 | ||||||||||||||||||||
HPRD | |||||||||||||||||||||
IMGT | |||||||||||||||||||||
EMBL | |||||||||||||||||||||
GenPept | |||||||||||||||||||||
RNA Seq Atlas | 23229 | ||||||||||||||||||||