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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARHGEF6-associated Neurodevelopmental disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARHGEF6-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAKUT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 34069769 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Borjeson-Forssman-Lehmann syndrome Borjeson-Forssman-Lehmann Syndrome BEFREE 11337747
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 25479423 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24504536 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 25479423
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 25479423 Associate
★☆☆☆☆
Found in Text Mining only
Facial paralysis Facial paralysis HPO_DG
★☆☆☆☆
Found in Text Mining only