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MIRAGE
potassium voltage-gated channel subfamily Q member 2
Summary
- Gene Symbol
-
- KCNQ2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell membrane
- Disease variant
- Epilepsy
- Intellectual disability
- Phosphoprotein
- Potassium channel
- Proteomics identification
- Reference proteome
- Transmembrane helix
- Ubl conjugation
- Voltage-gated channel
- Proteins
| UniProt | Protein Name |
|---|---|
| Q53Y30 |
|
| A0A9L9PXL0 |
|
| A0A0D9SGG3 |
|
| O43526 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| action potential | ||
| chemical synaptic transmission | ||
| nervous system development | ||
| potassium ion transmembrane transport | ||
| potassium ion transmembrane transport |
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane | ||
| plasma membrane | ||
| plasma membrane | ||
| voltage-gated potassium channel complex | ||
| voltage-gated potassium channel complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated potassium channel activity | ||
| protein binding | ||
| calmodulin binding | ||
| voltage-gated monoatomic cation channel activity | ||
| ankyrin binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Potassium voltage-gated channel subfamily KQT member 2
- Functional Category
-
- E: Amino acid transport and metabolism
- K: Transcription
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| monoatomic ion channel activity |
| monoatomic ion transport |
| potassium channel activity |
| voltage-gated potassium channel activity |
| InterPro |
|---|
| Ion transport domain |
| Potassium channel, voltage dependent, KCNQ, C-terminal |
| Potassium channel, voltage dependent, KCNQ |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080462 | developmental and epileptic encephalopathy 7 | |
| DOID:14264 | benign neonatal seizures |
