Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9459
Gene name Gene Name - the full gene name approved by the HGNC.
Rac/Cdc42 guanine nucleotide exchange factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARHGEF6
Synonyms (NCBI Gene) Gene synonyms aliases
COOL2, Cool-2, MRX46, PIXA, alpha-PIX, alphaPIX
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRX46
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq26.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
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
GO:0005515 Function Protein binding IPI 11864573, 16374509, 16983070, 21295525, 21900206, 23455922, 31980649, 32296183
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300267 685 ENSG00000129675
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Severe intellectual disability, Moderate intellectual disability, Mental Retardation, X-Linked, Mental Retardation, X-Linked 46, Mental Retardation, X-Linked Nonsyndromic rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
11017088, 17304053, 19377476, 21989057
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Associations from Text Mining
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