Aliases for IQSEC2 Gene
External Ids for IQSEC2 Gene
Previous HGNC Symbols for IQSEC2 Gene
Previous GeneCards Identifiers for IQSEC2 Gene
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 cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
GeneCards Summary for IQSEC2 Gene
IQSEC2 (IQ Motif And Sec7 Domain ArfGEF 2) is a Protein Coding gene. Diseases associated with IQSEC2 include Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome and Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is IQSEC1.
UniProtKB/Swiss-Prot Summary for IQSEC2 Gene
Is a guanine nucleotide exchange factor for the ARF GTP-binding proteins.