Gene Gene information from NCBI Gene database.
Entrez ID 9459
Gene name Rac/Cdc42 guanine nucleotide exchange factor 6
Gene symbol ARHGEF6
Synonyms (NCBI Gene)
COOL2Cool-2MRX46PIXAalpha-PIXalphaPIX
Chromosome X
Chromosome location Xq26.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
457
miRTarBase ID miRNA Experiments Reference
MIRT007134 hsa-miR-30c-5p qRT-PCR 23418453
MIRT037230 hsa-miR-877-5p CLASH 23622248
MIRT483456 hsa-miR-888-5p HITS-CLIP 23824327
MIRT483455 hsa-miR-5197-3p HITS-CLIP 23824327
MIRT483454 hsa-miR-6758-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity NAS 11017088
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS
GO:0005096 Function GTPase activator activity NAS 9582122
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300267 685 ENSG00000129675
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15052
Protein name Rho guanine nucleotide exchange factor 6 (Alpha-Pix) (COOL-2) (PAK-interacting exchange factor alpha) (Rac/Cdc42 guanine nucleotide exchange factor 6)
Protein function Acts as a RAC1 guanine nucleotide exchange factor (GEF).
PDB 1UJY , 1WYR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 1 112 Calponin homology (CH) domain Domain
PF16615 RhoGEF67_u1 114 160 Disordered
PF07653 SH3_2 164 217 Variant SH3 domain Domain
PF00621 RhoGEF 245 419 RhoGEF domain Domain
PF00169 PH 443 548 PH domain Domain
PF16614 RhoGEF67_u2 570 678 Disordered
PF16523 betaPIX_CC 681 769 betaPIX coiled coil Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 776
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Regulation of actin cytoskeleton
Pancreatic cancer
  NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
G beta:gamma signalling through CDC42
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
43
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ARHGEF6-associated Neurodevelopmental disorder Uncertain significance rs375084147 RCV002275049
ARHGEF6-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs35106300, rs138342895, rs12008084, rs75329154, rs2522148728, rs2522424517, rs766570806, rs762641850, rs140322310, rs145081421, rs140378313, rs770180249 RCV003952564
RCV003952565
RCV003905111
RCV003927762
RCV003427810
RCV003410608
RCV003931686
RCV003962063
RCV003902448
RCV003960148
RCV003943008
RCV003413787
Familial cancer of breast Benign; Likely benign rs140322310 RCV005900606
Genetic developmental and epileptic encephalopathy Benign; Likely benign rs35106300 RCV005621878
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37058762
Autism Spectrum Disorder Associate 34069769
Colitis Ulcerative Associate 25479423
Colorectal Neoplasms Associate 24504536
Crohn Disease Associate 25479423
Inflammatory Bowel Diseases Associate 25479423
Intellectual Disability Associate 23871722
Leukemia Myeloid Acute Associate 37027440
Mental Retardation X Linked Associate 17304053, 9783701
Neoplasms Associate 37058762