InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ARHGEF9

Summary

InnateDB Protein

IDBP-73045.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ARHGEF9

Protein Name

Cdc42 guanine nucleotide exchange factor (GEF) 9

Synonyms

COLLYBISTIN; EIEE8; HPEM-2; PEM-2; PEM2;

Species

Homo sapiens

Ensembl Protein

ENSP00000253401

InnateDB Gene

IDBG-73041 (ARHGEF9)

Protein Structure

UniProt Annotation

Function

Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters. {ECO:0000269PubMed:10559246}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:10559246}.

Disease Associations

Epileptic encephalopathy, early infantile, 8 (EIEE8) [MIM:300607]: A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion. {ECO:0000269PubMed:15215304}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in brain. Detected at low levels in heart. {ECO:0000269PubMed:10559246}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005089	Rho guanyl-nucleotide exchange factor activity
GO:0005515	protein binding

Biological Process

GO:0007264	small GTPase mediated signal transduction
GO:0007268	synaptic transmission
GO:0032321	positive regulation of Rho GTPase activity
GO:0034220	ion transmembrane transport
GO:0035023	regulation of Rho protein signal transduction
GO:0043065	positive regulation of apoptotic process
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0051056	regulation of small GTPase mediated signal transduction
GO:0055085	transmembrane transport
GO:0097190	apoptotic signaling pathway