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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| IQ motif and Sec7 domain 2 | MIM:300522 | Ensembl:ENSG00000124313 | HGNC:HGNC:29059 | PA134870898 | Xp11.22 |
GO terms in IQSEC2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IMP | GO:0005086 | ARF guanyl-nucleotide exchange factor activity |
| BP | IEA | GO:0032012 | regulation of ARF protein signal transduction |
| CC | IEA | GO:0005737 | cytoplasm |
Gene expression in normal tissue: IQSEC2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in IQSEC2
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.