ARHGEF9, Cdc42 guanine nucleotide exchange factor 9

ARHGEF9, Cdc42 guanine nucleotide exchange factor 9

• 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]

• Gene Synonyms (COLLYBISTIN, EIEE8, HPEM-2, PEM-2, PEM2, rho guanine nucleotide exchange factor 9, Cdc42 guanine nucleotide exchange factor (GEF) 9, PEM-2 homolog, hPEM-2 collybistin, rac/Cdc42 guanine nucleotide exchange factor 9,)
• NCBI Gene ID: 23229
• Species: Homo sapiens (Human)
• UNIPROT ID#>>B1AMR3
  UNIPROT ID#>>O43307
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

Cdc42 guanine nucleotide exchange factor 9 interacts with:

• family with sequence similarity 90 member A1
  interactor of HORMAD1 1
  pleckstrin homology domain containing A5
  SMAD specific E3 ubiquitin protein ligase 1
  TBC1 domain family member 22B
  testis specific 10 interacting protein
  tuftelin interacting protein 11

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.