IQSEC2


Summary: 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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
IQ motif and Sec7 domain 2MIM:300522Ensembl:ENSG00000124313HGNC:HGNC:29059PA134870898Xp11.22

GO terms in IQSEC2


Term TypeEvidence TypeGO Term IDGO Des.
MFIMPGO:0005086ARF guanyl-nucleotide exchange factor activity
BPIEAGO:0032012regulation of ARF protein signal transduction
CCIEAGO:0005737cytoplasm

Gene expression in normal tissue: IQSEC2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in IQSEC2


DatabasePathway IDPathway Des.
kegghsa04144Endocytosis - Homo sapiens (human)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD30917AAG1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in IQSEC2

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