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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
IQ motif and Sec7 domain ArfGEF 2
Summary
- Gene Symbol
-
- IQSEC2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Coiled coil
- Cytoplasm
- Disease variant
- Intellectual disability
- Methylation
- Phosphoprotein
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q5JU85 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| positive regulation of synaptic transmission, glutamatergic | ||
| actin cytoskeleton organization | ||
| regulation of neurotransmitter receptor localization to postsynaptic specialization membrane | ||
| modulation of chemical synaptic transmission | ||
| regulation of ARF protein signal transduction |
GO Hierarchy
biological process
biological regulation [inference]
regulation of biological process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| guanyl-nucleotide exchange factor activity |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- isoform a
- Functional Category
-
- G: Carbohydrate transport and metabolism
- J: Translation, ribosomal structure and biogenesis
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| regulation of ARF protein signal transduction |
| InterPro |
|---|
| Sec7 domain superfamily |
| Sec7 domain |
| Sec7, C-terminal domain superfamily |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050776 | non-syndromic X-linked intellectual disability | |
| DOID:0112038 | non-syndromic X-linked intellectual disability 1 |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 106025571 | CAVPO23508 | |||
| 106503831 | CAPHI32038 | |||
| 108520300 | RHIBE40892 | |||
| 108699966 | Xenbase:XB-GENE-17330075 | |||
| 108704490 | Xenbase:XB-GENE-6487640 | |||
| 113443353 | PSETE15744 | |||
| 114587346 | PODMU24697 | |||
| 117022195 | RHIFE17628 | |||
| 118888956 | BALMU19245 | |||
| 129024557 | 9600_0:005401 |
