Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23096
MIM: 300522
HGNC: 29059
Ensembl: ENSG00000124313
Variants:
dbSNP: 23096
ClinVar: 23096
TCGA: ENSG00000124313
COSMIC: IQSEC2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Endocytosis | KEGG | ko04144 |
| Endocytosis | KEGG | hsa04144 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37078745 | 2024 | Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2. | 0 |
| 37078745 | 2024 | Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2. | 0 |
| 36902414 | 2023 | Molecular Insights into IQSEC2 Disease. | 3 |
| 37787765 | 2023 | Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions. | 1 |
| 36902414 | 2023 | Molecular Insights into IQSEC2 Disease. | 3 |
| 37787765 | 2023 | Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions. | 1 |
| 35344748 | 2022 | Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy. | 4 |
| 35347702 | 2022 | IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain. | 4 |
| 36012761 | 2022 | Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder. | 2 |
| 36444437 | 2022 | [Genotypes and phenotypes of IQSEC2 gene variants related epilepsy]. | 0 |
| 35344748 | 2022 | Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy. | 4 |
| 35347702 | 2022 | IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain. | 4 |
| 36012761 | 2022 | Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder. | 2 |
| 36444437 | 2022 | [Genotypes and phenotypes of IQSEC2 gene variants related epilepsy]. | 0 |
| 33368194 | 2021 | IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? | 10 |
Citation
Dessen P
IQSEC2 (IQ motif and Sec7 domain ArfGEF 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64659/iqsec2-(iq-motif-and-sec7-domain-arfgef-2)
