Gene Gene information from NCBI Gene database.
Entrez ID 8874
Gene name Rho guanine nucleotide exchange factor 7
Gene symbol ARHGEF7
Synonyms (NCBI Gene)
BETA-PIXCOOL-1COOL1Nbla10314P50P50BPP85P85COOL1P85SPRPAK3PIXB
Chromosome 13
Chromosome location 13q34
Summary This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffle
miRNA miRNA information provided by mirtarbase database.
355
miRTarBase ID miRNA Experiments Reference
MIRT030425 hsa-miR-24-3p Microarray 19748357
MIRT050964 hsa-miR-17-5p CLASH 23622248
MIRT050571 hsa-miR-20a-5p CLASH 23622248
MIRT040805 hsa-miR-18a-3p CLASH 23622248
MIRT374484 hsa-miR-580-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity EXP 12695502, 17310244
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 21048939
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605477 15607 ENSG00000102606
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14155
Protein name Rho guanine nucleotide exchange factor 7 (Beta-Pix) (COOL-1) (PAK-interacting exchange factor beta) (p85)
Protein function Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regul
PDB 1BY1 , 1ZSG , 2L3G , 5SXP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 1 91 Calponin homology (CH) domain Domain
PF16615 RhoGEF67_u1 138 184 Disordered
PF07653 SH3_2 188 241 Variant SH3 domain Domain
PF00621 RhoGEF 275 449 RhoGEF domain Domain
PF00169 PH 478 578 PH domain Domain
PF16614 RhoGEF67_u2 632 732 Disordered
Sequence
MNSAEQTVTWLITLGVLESPKKTISDPEGFLQASLKDGVVLCRLLERLLPGTIEKVYPEP
RSESECLSNIREFLRGCGASLRLELLFPPSQ
PPQHLVTTILLSASTFDANDLYQGQNFNK
VLSSLVTLNKVTADIGLGSDSVCARPSSHRIKSFDSLGSQSLHTRTSKLFQGQYRSLDMT
DNSN
NQLVVRAKFNFQQTNEDELSFSKGDVIHVTRVEEGGWWEGTLNGRTGWFPSNYVRE
V
KASEKPVSPKSGTLKSPPKGFDTTAINKSYYNVVLQNILETENEYSKELQTVLSTYLRP
LQTSEKLSSANISYLMGNLEEICSFQQMLVQSLEECTKLPEAQQRVGGCFLNLMPQMKTL
YLTYCANHPSAVNVLTEHSEELGEFMETKGASSPGILVLTTGLSKPFMRLDKYPTLLKEL
ERHMEDYHTDRQDIQKSMAAFKNLSAQCQ
EVRKRKELELQILTEAIRNWEGDDIKTLGNV
TYMSQVLIQCAGSEEKNERYLLLFPNVLLMLSASPRMSGFIYQGKLPTTGMTITKLEDSE
NHRNAFEISGSMIERILVSCNNQQDLQEWVEHLQKQTK
VTSVGNPTIKPHSVPSHTLPSH
PVTPSSKHADSKPAPLTPAYHTLPHPSHHGTPHTTINWGPLEPPKTPKPWSLSCLRPAPP
LRPSAALCYKEDLSKSPKTMKKLLPKRKPERKPSDEEFASRKSTAALEEDAQILKVIEAY
CTSAKTRQTLNS
TWQGTDLMHNHVLADDDQPSLDSLGRRSSLSRLEPSDLSEDSDYDSIW
TAHSYRMGSTSRKSCCSYISHQN
Sequence length 803
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Regulation of actin cytoskeleton
Yersinia infection
  EGFR downregulation
NRAGE signals death through JNK
Rho GTPase cycle
Ephrin signaling
G alpha (12/13) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINOPATHY OF PREMATURITY GWAS catalog
★★☆☆☆
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
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 26279205
★☆☆☆☆
Found in Text Mining only
ACTH Syndrome, Ectopic Ectopic ACTH secretion syndrome BEFREE 20960100
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 1310887
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 21750116
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 30132516
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25683605
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 28281555
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 26988706
★☆☆☆☆
Found in Text Mining only