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 |
|---|---|---|---|---|---|
OMIM IDMIM:300522 Ensembl IDEnsembl:ENSG00000124313 HGNC IDHGNC:HGNC:29059 PHARMGKB IDPA134870898 Map LocationXp11.22 | |||||
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
Pathways in IQSEC2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in IQSEC2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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