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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
- Proteomics identification
- Reference proteome
- Signal
- Transmembrane helix
- Voltage-gated channel
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| neuromuscular junction development |
|
|
| organ growth |
|
|
| regulation of multicellular organism growth |
|
|
| positive regulation of muscle contraction |
|
|
| positive regulation of organ growth |
|
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane |
|
|
| voltage-gated calcium channel complex |
|
|
| membrane |
|
|
| T-tubule |
|
|
| monoatomic ion channel complex |
|
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated calcium channel activity |
|
|
| calcium channel activity |
|
|
| metal ion binding |
|
|
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 |
|---|---|---|
| 56808 | MGI:1929813 | |
| 300992 | RGD:631360 | |
| 176155 | WB:WBGene00006772 |
