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This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Q5JU85 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
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Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005086 [ARF guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0030036 [actin cytoskeleton organization] GO:0032012 [regulation of ARF protein signal transduction] GO:0043547 [positive regulation of GTPase activity]
Q5JU85 [Direct mapping] IQ motif and SEC7 domain-containing protein 2
Show all
Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005086 [ARF guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0030036 [actin cytoskeleton organization] GO:0032012 [regulation of ARF protein signal transduction] GO:0043547 [positive regulation of GTPase activity]