• Gene id: 9459

Gene Summary

• Gene Symbol: ARHGEF6   Gene   UCSC   Ensembl
• Aliases: COOL2, Cool-2, MRX46, PIXA, alpha-PIX, alphaPIX
• Gene name: Rac/Cdc42 guanine nucleotide exchange factor 6
• Alternate names: rho guanine nucleotide exchange factor 6, PAK-interacting exchange factor, alpha, Rac/Cdc42 guanine exchange factor (GEF) 6, Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6,
• Gene location: Xq26.3 (136780944: 136665546)     Exons: 25     NC_000023.11
• Gene summary(Entrez): Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family
• OMIM: 300267

Protein Summary

• Protein general information: Q15052  
  • Name: Rho guanine nucleotide exchange factor 6 (Alpha Pix) (COOL 2) (PAK interacting exchange factor alpha) (Rac/Cdc42 guanine nucleotide exchange factor 6)
  • Length: 776  
  • Mass: 87499
  • Tissue specificity: Ubiquitous.
• Sequence:

  MNPEEQIVTWLISLGVLESPKKTICDPEEFLKSSLKNGVVLCKLINRLMPGSVEKFCLDPQTEADCINNINDFLK
  GCATLQVEIFDPDDLYSGVNFSKVLSTLLAVNKATEDQLSERPCGRSSSLSAANTSQTNPQGAVSSTVSGLQRQS
  KTVEMTENGSHQLIVKARFNFKQTNEDELSVCKGDIIYVTRVEEGGWWEGTLNGRTGWFPSNYVREIKSSERPLS
  PKAVKGFETAPLTKNYYTVVLQNILDTEKEYAKELQSLLVTYLRPLQSNNNLSTVEVTSLLGNFEEVCTFQQTLC
  QALEECSKFPENQHKVGGCLLSLMPHFKSMYLAYCANHPSAVNVLTQHSDELEQFMENQGASSPGILILTTNLSK
  PFMRLEKYVTLLQELERHMEDTHPDHQDILKAIVAFKTLMGQCQDLRKRKQLELQILSEPIQAWEGEDIKNLGNV
  IFMSQVMVQYGACEEKEERYLMLFSNVLIMLSASPRMSGFIYQGKIPIAGTVVTRLDEIEGNDCTFEITGNTVER
  IVVHCNNNQDFQEWLEQLNRLIRGPASCSSLSKTSSSSCSAHSSFSSTGQPRGPLEPPQIIKPWSLSCLRPAPPL
  RPSAALGYKERMSYILKESSKSPKTMKKFLHKRKTERKPSEEEYVIRKSTAALEEDAQILKVIEAYCTSANFQQG
  HGSSTRKDSIPQVLLPEEEKLIIEETRSNGQTIMEEKSLVDTVYALKDEVRELKQENKRMKQCLEEELKSRRDLE
  KLVRRLLKQTDECIRGESSSKTSILP

• Structural information:
  • Protein Domains: (1..11-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (160..21-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (241..42-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0-)
  • Interpro: IPR035788  IPR001715  IPR036872  IPR035899  IPR000219   IPR032409  IPR011993  IPR001849  IPR036028  IPR001452  IPR003096  
  • Prosite: PS50021 PS50010 PS50003 PS50002
  • CDD: cd00014 cd00160 cd12060
  • PDB: 1UJY 1WYR
  • PDBsum: 1UJY 1WYR
  • DIP: 42694
  • STRING: ENSP00000250617
• Other Databases: GeneCards:  ARHGEF6  Malacards:  ARHGEF6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030032	lamellipodium assembly	ISS	biological process
GO:0030027	lamellipodium	ISS	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	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:0005829	cytosol	TAS	cellular component
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: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: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: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:0030027	lamellipodium	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0007254	JNK cascade	NAS	biological process
GO:0005096	GTPase activator activity	NAS	molecular function
GO:0005089	Rho guanyl-nucleotide exchange factor activity	NAS	molecular function
GO:0006915	apoptotic process	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa05212	Pancreatic cancer

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Intellectual disability	PMID:11017088
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R