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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Reference proteome
- Transmembrane helix
- Ubl conjugation
- Voltage-gated channel
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| action potential | ||
| nervous system development | ||
| potassium ion transmembrane transport | ||
| chemical synaptic transmission |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| ankyrin binding | ||
| calmodulin binding | ||
| voltage-gated monoatomic cation channel activity | ||
| voltage-gated potassium channel activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Potassium voltage-gated channel subfamily KQT member
- 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:0112202 | developmental and epileptic encephalopathy | |
| DOID:10273 | heart conduction disease | |
| DOID:14264 | benign neonatal seizures | |
| DOID:2843 | long QT syndrome |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 108535299 | RHIBE21112 | |||
| 109054232 | CYPCA49558 | |||
| 110257402 | PIGXX12124 | |||
| 111219367 | SERDU18325 | |||
| 112932272 | VULVU27864 | |||
| 113021848 | ASTCA31652 | |||
| 113434522 | PSETE05252 | |||
| 113571649 | ELEEL00482 | |||
| 113903269 | BOBOX02618 | |||
| 114033127 | VOMUR11408 |
