Homo sapiens Gene: ARHGEF9
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:63634967-63809274
Strand Reverse strand
Band q11.2
Transcripts
ENST00000374878 ENSP00000364012
ENST00000253401 ENSP00000253401
ENST00000374872 ENSP00000364006
ENST00000374870 ENSP00000364004
ENST00000437457 ENSP00000399994
ENST00000495564 ENSP00000485633
ENST00000498761
ENST00000466925 ENSP00000485086
ENST00000623517 ENSP00000485369
ENST00000624210 ENSP00000485144
ENST00000624783
ENST00000624843 ENSP00000485626
ENST00000623417 ENSP00000485083
ENST00000625116 ENSP00000485160
ENST00000623566 ENSP00000485559
ENST00000624355 ENSP00000485327
ENST00000624387
ENST00000624538 ENSP00000485282
ENST00000623951
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
Biological Process
GO:0007264 small GTPase mediated signal transduction
GO:0007268 synaptic transmission
GO:0032321 positive regulation of Rho GTPase activity
GO:0034220 ion transmembrane transport
GO:0035023 regulation of Rho protein signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0055085 transmembrane transport
GO:0097190 apoptotic signaling pathway
Cellular Component
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
G alpha (12/13) signalling events pathway
Signalling by NGF pathway
Ligand-gated ion channel transport 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
NRAGE signals death through JNK pathway
Orphan transporters pathway
Ion channel transport pathway
Rho GTPase cycle pathway
Transmission across Chemical Synapses pathway
Cell death signalling via NRAGE, NRIF and NADE pathway
GABA A receptor activation pathway
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Regulation of CDC42 activity
Cross-References
SwissProt O43307
TrEMBL
UniProt Splice Variant
Entrez Gene 23229
UniGene Hs.54697
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 CCDS35315 CCDS55429 CCDS55430
HPRD 02337
IMGT
EMBL AB007884 AK289993 AK295033 AL355142 AL391277 AL451106 BC056892 BC117406
GenPept AAI17407 BAA24854 BAF82682 BAG58088 CAI39550 CAI40401 CAI41195
RNA Seq Atlas 23229