IQSEC2

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]

Description

IQ motif and Sec7 domain ArfGEF 2

Tissue specificity

Tissue enhanced (skeletal muscle)

Subcell location

Vesicles, Lipid droplets

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X:p11.22 (53225828 - 53321350)

Ensembl ID

ENSG00000124313  (ver. 103.38)

Orthologs

Mouse Iqsec2: ENSMUSG00000041115

UniProt

Q5JU85

neXtProt

NX_Q5JU85

Human splice variants
Mouse splice variants