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FLASH GENE
Symbol ARHGEF9 contributors: mct - updated : 09-11-2016
HGNC name Cdc42 guanine nucleotide exchange factor (GEF) 9
HGNC id 14561
Corresponding disease
MRX83 mental retardation, X-linked 83
STHEEX Startle disease, hyperekplexia, with epilepsia
Location Xq11.1      Physical location : 62.854.847 - 63.005.426
Synonym name
  • hPEM-2 collybistin
  • collybistin
  • Rho guanine nucleotide exchange factor 9
  • Rac/Cdc42 guanine nucleotide exchange factor 9
  • PEM-2 homolog
  • Synonym symbol(s) KIAA0424, PEM2, HPEM-2, COLLYBISTIN
    DNA
    TYPE functioning gene
    STRUCTURE 151.06 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC392480 X hypothetical gene supported by M35262 LOC139886 Xq11.2 hypothetical protein LOC139886 ARHGEF9 Xq11.1 Cdc42 guanine nucleotide exchange factor (GEF) 9 HNRPDP Xq12 heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene FLJ39827 Xq11.2 hypothetical protein FLJ39827 ASB12 Xq11.2 ankyrin repeat and SOCS box-containing 12 MTMR8 Xq11.2 myotubularin related protein 8 LOC392481 X similar to SHC transforming protein LOC392482 X similar to protein kinase C inhibitor KCIP-1 isoform delta - sheep  (fragment) LOC139281 Xq11.2 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 LOC392483 X similar to hypothetical protein HCA127 Xq12 hepatocellular carcinoma-associated antigen 127 LOC389863 X hypothetical gene supported by BC000228; NM_005077 LOC286449 Xq12 hypothetical gene supported by NM_005077; BC010100 LOC340554 Xq12 similar to KIAA1726 protein FLJ12525 Xq12-q13 hypothetical protein FLJ12525 FKSG43 Xq12 FKSG43 MSN Xq11.21-q12.1 moesin LOC392484 X similar to Nanog homeobox; homeobox transcription factor Nanog LOC347421 Xq12 similar to hypothetical protein FLJ40432 LOC389864 X hypothetical gene supported by AK091520; BC006550; BC007435; NM_002139 LOC389865 X LOC389865 Z39IG Xp11-q11 Homo sapiens Ig superfamily protein (Z39IG), mRNA. LOC392485 X similar to CG13379-PA
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 5450 61 516 - 2011 21540179
    9 - 4853 54.8 463 - 2011 21540179
  • CB2
  • differ in the C terminus and occur with and without the Src homology 3 (SH3) domain
  • 9 - 5259 49.3 414 - 2011 21540179
  • CB3
  • differ in the C terminus and occur with and without the Src homology 3 (SH3) domain
  • - - 5111 - 495 - 2011 21540179
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text in the developing brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • SH3 domain
  • RHO-GEF domain
  • a pleckstrin homology domain, with a part (residues 318-343) sufficient for binding to SURF1
  • HOMOLOGY
    Homologene
    FAMILY
  • Rho-like GTPases family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • modulating the activity of RHO-like proteins and connecting extracellular signals to cytoskeletal activities
  • having a key role in membrane trafficking of gephyrin
  • and selected GABAA receptor subtypes involved in epilepsy,
    anxiety, aggression, insomnia, and learning and memory
  • key regulatorof the actin cytoskeleton and are involved in cell signaling
  • pivotal role in formation of postsynaptic glycine and gamma-aminobutyric acid receptor clusters
  • brain-specific guanine nucleotide exchange factor (GEF) that is crucial for the postsynaptic accumulation of gephyrin and (GABA(A) Rs) at a specific subset of inhibitory synapse
  • guanine-nucleotide-exchange factor (GEF) selectively activating CDC42
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • collybistin-gephyrin (ARHGEF9/GPHN)complex has an intimate role in the clustering of GABA(A)Rs containing the alpha2 subunit
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GPHN (during inhibitory postsynaptic membrane formation)
  • target of SMURF1, that induces its proteasomal degradation
  • formation of gephyrin scaffolds at inhibitory synapses requires an intact ARHGEF9 PH-domain but is CDC42-independent
  • interacting with CDC42 (ARHGEF9 and CDC42 are major regulators of GABAergic postsynaptic densities) (PMID;
  • GPHN-binding protein ARHGEF9 is involved in regulating the phosphorylation of GPHN
  • ARHGEF9 and CDK5 are involved in regulating the phosphorylation of GPHN at postsynaptic membrane specializations
  • small Rho-like GTPase RHOQ stimulates ARHGEF9-dependent GPHN clustering by binding in its active, GTP-bound state to the pleckstrin homology domain of ARHGEF9
  • neuron-specific Rho-GEF interacts with EIF3A, and its binding partner GPHN associates with MTOR
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) STHEEX , MRX83
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   translocation    
    disrupted by a balanced translocation, in a female patient with epilepsy, anxiety, agression and mental retardation (Kalscheuer,09)
    Susceptibility to coronary artery spasm
    Variant & Polymorphism other
  • Ala370Ser polymorphism in the ARHGAP9 gene is associated with coronary artery spasm
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS