• Gene id: 23229

Gene Summary

• Gene Symbol: ARHGEF9   Gene   UCSC   Ensembl
• Aliases: COLLYBISTIN, EIEE8, HPEM-2, PEM-2, PEM2
• Gene name: Cdc42 guanine nucleotide exchange factor 9
• Alternate names: 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,
• Gene location: Xq11.1 (63785545: 63634966)     Exons: 21     NC_000023.11
• Gene summary(Entrez): 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 g
• OMIM: 300429

Protein Summary

• Protein general information: O43307  
  • Name: Rho guanine nucleotide exchange factor 9 (Collybistin) (PEM 2 homolog) (Rac/Cdc42 guanine nucleotide exchange factor 9)
  • Length: 516  
  • Mass: 60982
  • Tissue specificity: Detected in brain. Detected at low levels in heart. {ECO
• Sequence:

  MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEG
  PSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFG
  NIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACR
  LLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQW
  QASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVD
  IEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVR
  KVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDGIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK

• Structural information:
  • Protein Domains: (8..6-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (103..28-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (318..42-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR035728  IPR035899  IPR000219  IPR011993  IPR001849   IPR036028  IPR001452  
  • Prosite: PS50010 PS50003 PS50002
  • CDD: cd00160 cd11975
  • PDB: 2YSQ
  • PDBsum: 2YSQ
  • STRING: ENSP00000253401
• Other Databases: GeneCards:  ARHGEF9  Malacards:  ARHGEF9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0014069	postsynaptic density	ISS	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Hyperekplexia and epilepsy	KEGG:H02353
Early infantile epileptic encephalopathy	KEGG:H00606
Hyperekplexia and epilepsy	KEGG:H02353
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq