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MIRAGE
calcium voltage-gated channel auxiliary subunit alpha2delta 2
Summary
- Gene Symbol
-
- CACNA2D2
- Aliases
-
- KIAA0558
- alpha2delta-2
- gene 26
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Calcium channel
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Metal-binding
- Reference proteome
- Signal
- Transmembrane helix
- Voltage-gated channel
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9NY47 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| neuromuscular junction development | ||
| organ growth | ||
| regulation of multicellular organism growth | ||
| positive regulation of organ growth | ||
| muscle cell development |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane | ||
| voltage-gated calcium channel complex | ||
| presynaptic active zone membrane | ||
| GABA-ergic synapse |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated calcium channel activity | ||
| metal ion binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- voltage-dependent calcium channel
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| calcium channel activity |
| calcium ion transmembrane transport |
| monoatomic ion transport |
KEGG BRITE Database
Disease
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000486 | Strabismus |
| HP:0000496 | Abnormality of eye movement |
| HP:0000639 | Nystagmus |
| HP:0000817 | Reduced eye contact |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001260 | Dysarthria |
| HP:0001290 | Generalized hypotonia |
| HP:0001310 | Dysmetria |
| Disease ID | Disease Name |
|---|---|
| OMIM:618501 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 781 | WB:WBGene00006772 | ||
| 9254 | Xenbase:XB-GENE-854937 | ||
| 12293 | WB:WBGene00006772 | ||
| 12294 | WB:WBGene00006772 | ||
| 55799 | WB:WBGene00006772 | ||
| 56808 | Xenbase:XB-GENE-854937 | MOUSE61176 | |
| 93589 | WB:WBGene00006772 | ||
| 176155 | ZFIN:ZDB-GENE-060503-99 | ||
| 300992 | Xenbase:XB-GENE-854937 | RATNO40276 | |
| 306243 | WB:WBGene00006772 |
