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This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005070 [SH3/SH2 adaptor activity] GO:0005096 [GTPase activator activity] GO:0005515 [protein binding] GO:0005829 [cytosol] GO:0007165 [signal transduction] GO:0007264 [small GTPase mediated signal transduction] GO:0008045 [motor neuron axon guidance] GO:0009967 [positive regulation of signal transduction] GO:0035556 [intracellular signal transduction] GO:0043087 [regulation of GTPase activity] GO:0043547 [positive regulation of GTPase activity] GO:0046872 [metal ion binding] GO:0046875 [ephrin receptor binding] GO:0048013 [ephrin receptor signaling pathway] GO:0050770 [regulation of axonogenesis] GO:0051056 [regulation of small GTPase mediated signal transduction]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005070 [SH3/SH2 adaptor activity] GO:0005096 [GTPase activator activity] GO:0005515 [protein binding] GO:0005829 [cytosol] GO:0007165 [signal transduction] GO:0007264 [small GTPase mediated signal transduction] GO:0008045 [motor neuron axon guidance] GO:0009967 [positive regulation of signal transduction] GO:0035556 [intracellular signal transduction] GO:0043547 [positive regulation of GTPase activity] GO:0046872 [metal ion binding] GO:0048013 [ephrin receptor signaling pathway] GO:0050770 [regulation of axonogenesis] GO:0051056 [regulation of small GTPase mediated signal transduction]
Predicted intracellular proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005070 [SH3/SH2 adaptor activity] GO:0005096 [GTPase activator activity] GO:0005515 [protein binding] GO:0005829 [cytosol] GO:0007165 [signal transduction] GO:0007264 [small GTPase mediated signal transduction] GO:0008045 [motor neuron axon guidance] GO:0009967 [positive regulation of signal transduction] GO:0035556 [intracellular signal transduction] GO:0043547 [positive regulation of GTPase activity] GO:0046872 [metal ion binding] GO:0048013 [ephrin receptor signaling pathway] GO:0050770 [regulation of axonogenesis] GO:0051056 [regulation of small GTPase mediated signal transduction]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)